Datasets:

mlabonne

/

know_medical_dialogue_v2

like 4

COVID and Upper Respiratory Infection23 F. 230 lbs and smoker. I went to the urgent care 3 weeks ago and was told I had an upper respiratory infection. I took a 5 day prescription of Azithromycin. Today I tested positive for COVID. Is this concerning that I got these back to back? I never even officially recovered from the upper respiratory infection. Thank you (I am vaccinated, not boosted yet)

Not really. COVID can be an upper respiratory infection so may still be positive from the first infection.

Is 5 days of amoxicillin twice daily a normal treatment time for a mild upper respiratory infection?Age- 25 sex- male height- 5'9 location - green phlegm, sneezing, sore throat, etc.I was given amoxicillin but only for 5 days. Twice a day. I'm assuming the standard dosage. I read online typical treatment is 10 days.Is this long enough usually? The symptoms described here are exactly what the doc was told. Do i need more? It was originally scheduled as a covid visit and the doctor was very short with me, so i don't think they were very thorough in anything. Yes, i know i can get a second opinion, that still doesn't answer me.

I usually prescribe 500mg three times daily for 5 days for a mild bacterial RTI

What does it mean when my inflammation markers are off the charts, but I FEEL fineAge: 44 Weight: 185 Location of issue: Blood, I guess? Duration? Approx 24 years at this point.So...about 4 years ago, I was diagnosed with RA. The kind that doesn't show up as RA on blood tests, but I have all the symptoms and my inflammation markers are off the charts, so it HAS to be RA based on ruling everything else out, right? That was my doctor's determination.I'm seeing a new doctor next month...one who is in the same practice as my current doctor (who I'm dumping) and the same specialty (rheumatology) as my current doctor. I had a zoom call with New Doctor recently and she was like, "Why the fuck are your inflammation levels TOO DAMN HIGH when you've been on two different medications for a long ass time now (4 years on sulfasalazine and approx 2 1/2 years on hydroxychloriquine in combination with the sulfasalazine)? You DO take them as prescribed, right?" which I totally do.So what does that MEAN? Does it mean my RA is still causing problems even though I feel physically fine most of the time? Does it mean I need to change drugs?I don't have any joint swelling, just occasional pain when I have a flare up. I had no idea (at least not until New Doctor looked at my old blood work results) that my inflammation markers were still off the damn charts even after several years of being on medication to fix that shit.

What are your labs?

Looking for expertise-rheumatology, immunology..?Hi, I'm a 39yo female, a healthy eater and active with daily cardio exercise. I've been on BP meds since 22yo after I went in for a flu visit and it was recommended I start them. My current is propranolol 60mg ER and that's been about 8 years. Otherwise my health and blood work is good however, over the last 6 months I've noticed in increase in flushing, primarily in the face and upper arms, along with small, closed skin, slightly raised lesion marks here and there. Additionally, I get fairly significant swelling and redness in my hands and feet, along with joint pain in my feet sometimes to the point I feel like my feet bones are going to crumble. I do have a genetically bad back with disc collapse in my lower spine and injections have been recommended for that. But Im not sure that could be related to everything else. My original thought was a food or alcohol allergy as the swelling starts minutes after I eat or drink, which is few and far between. The problem is the swelling then stays all day, to the point I have to take my jewelry off. With that and the redness it is super embarrassing and I feel like my face is 110 degrees so it's also uncomfortable. I drink water, I take vitamins and I feel good in the mornings. Come the afternoon though it's like my body starts to fall apart and feel 80 years old. I feel I'm having inflammatory responses to something but I just can't identify it. I use excema lotions and hydrocortisone as needed on my arms. I'm just at a loss and wondering if it could be medication related, or if there's something I'm missing? Thank you.

It's difficult to diagnose this without an exam and evaluation. I would take pictures of this flushing (what makes it worse/better, worse in sun? Etc) for your doctors, as well as any swelling. Try to see if there's a temporal relation to the joint pain/swelling (morning, night, what makes it better etc). If there's no contraindications, I would recommend trying some NSAIDs to see if it helps the swelling - note that if it does. Always take NSAIDs with food.Also any new supplements you're taking. Some weird stuff in those sometimes.

Thank you so much, I will definitely do those things and appreciate your time and response.

A quick aside, if you're looking this up, I'm sure you'll come across lupus. Lupus requires a constellation of clinical symptoms with the appropriate serologic markers - based on your story so far, I would not say you have lupus yet. Just to ease your mind a bit in case you come across this.

I did see that come across...thank you for easing my mind! I keep coming across rheumatoid arthritis and psoriatic arthritis as well. It's just very difficult to identify whether I have a few different things possibly that just happen to be displaying all together (ie. a genuine food/medication allergy combined with lower body pain from lower back nerve issues, etc). Although i do notice that I have periods of clear skin and minimal discomfort all around, and then it'll transition to a week or two or increased skin redness and sensitivity. The swelling is unfortunately something I'm seeing everyday though.

Both of those fall under different groups of inflammatory arthritis - this type of arthritis does present with swelling. The pain is typically described as a stiffness that improves with activity - hence it tends to be the worst in the AM or after a long car ride for example. The swelling you have is interesting to me but the character of your pain is a little atypical and the overall picture does not seem to clearly fit inflammatory arthritis.The causes for facial flushing are many - ranging from menopause to thyroid issues. Typically we shoot for a unifying diagnosis but certainly could be more than one - time for a doctors visit!

Fingers, Toes turning black and rotting off. Desperate for answers! Also hematology and rheumatology blood results and symptoms that no doctors can explain.I can't embed images here, so I made a pdf with all text, pictures, and labs. https://www.scribd.com/document/511582218/askdocs-pdf?secret_password=VqmaLuJA0tGw5bGE5xYp It will be much easier to read the whole thing there, with the images embedded, but I will copy the text here.36F, 55, 115 lb, white. Primary complaint = fingers and toes turning black and rotten (pictures included). Existing issues = random red cell destruction without cause, random platelet destruction without cause, swellings and rashes (labs and pictures included). Medications = iron supplement. Occasional Claritin, Advil, Prednisone. No medication right now. No recreational drugs or smoking. Rare/light alcohol (an occasional drink on holidays or weddings) Rotten Fingers.My left thumb got a blood blister so I put Neosporin and gauze on it. The pain became so intense that I went 72 hours without sleep. I went to urgent care, who removed the bandage. The thumb was very swollen and the top third was black and crusty. (picture)They sent me to the Emergency Room, where they removed the upper half of the thumb. The pain completely went away, it was just a little sore and itchy.But a few days later, all the other fingers and 8 of the toes started turning black.(pictures)Thats the hand with the original bad thumb. The pinkie has a blood blister, the index and ring fingers are turning black and crusting at the very top under the nail, and the middle finger is just inky blue/black without any crustiness or blisters. The left picture was taken a day after the right one. Right Hand: no crustiness or blisters. The fingers are just dark. The index finger is getting kind of gooey (last picture).(pictures)Toes look blacker than fingers but not crusty. All but the two smallest toes on right foot are turning black.The ER doctors were very kind but nobody knew why my thumb turned black and rotten. Now here are all the other weird symptoms and bloodtests that doctors cant explain. None of it seemed like a big deal untl fingers started rotting. 2. Rotting BloodFor years my annual bloodwork showed I was anemic. For example(picture)But I had no symptoms of anemia other than feeling cold, so my NP said being anemic was just my normal and prescribed an iron supplement.Two or three times a year, I would get symptoms of extreme exhaustion that would last a few weeks. Most of the time, I felt healthy. But for those weeks, I would sleep the entire weekend, wake up Monday, stumble brain dead through the workday, then get home and fall right back asleep. After a few weeks, Id start to get better. For years, my NP said it was nothing, just a virus. But I never felt sick, just exhausted. Then a doctor saw me while it was happening. As soon as she saw me, she took my vitals, looked at my eyes, and said, this isnt all in your head. We need to take your blood. Here were those blood results(picture)It turns out that the exhaustion is because my blood starts rotting a few times a year. I went to hematology. They tested me for every possible cause of blood destruction. But everything was normal.Tests included DAT/Coombs negative, PNH w/ FLAER no flow cytometric evidence of paroxysmal nocturnal hemoglobinuria No evidence of aberrant loss of GPI-linked markers tested in erythroid or leukocyte populations. Anti-CD45, glycophorin A, CD59, CD24, CD15, CD64, and FLAER tested. Complement: C3C, C4C normal, CH50 high (>60). Cold hemagluttinins: none detected, G6PD - high (>21.00). No hereditary spherocytosis or elliptocytosis. Infections negative. Blood cultures normal.I can post the tests if anyone needs to see them.3. Bruises and Rotting PlateletsNormally I dont bruise any more than most people. But once in a while, I get bruises everywhere. My bra, underwear, and socks all leave big bruises. Theyre painless and go away in a couple weeks so I never worried about it. But when a doctor saw and tested, it turned out there were almost no platelets. The picture shows the bruising left by a loose sock. My whole shins were just big bruises that followed the pattern of the sock elastic.(picture)In a few weeks they were back up to 40 and the bruises were gone. Hematologist found no reason for platelets to suddenly drop like this. They checked for cancers and even took bone marrow but no answers.(picture)All the bone marrow tests like fish and genetics were normal. 4. Symptoms that Seem Autoimmune but Have No Rheumatologic Cause. Sometimes I get rashes and swellings that doctors think is autoimmune(pictures)Rheumatology has tested EVERYTHING again and again. Sedimentation rate, ferritin, and CRP are always high. But nothing else is usually abnormal.(pictures)They biopsied some of the rashes and purpuras (which I dont have pictures of, theyre just little painless red spots that sometimes break out on my legs). They all showed the same thing, leukocyto elastic vasculitis. Heres one.(picture)But every other type of test for vasculitis has been negative. Nobody has explained why someone healthy and pretty young like me should have chronic venous insufficiency either.I have only had one round of tests where there were any abnormal autoimmune results:(picture)But these things were only abnormal that ONE TIME. Rheumatology has re-tested them so many more times and they are always normal. They have tested for every other autoimmune disease and they are all normal. The only rheumatology tests that are often abnormal are sediment rate, creactive, and ferritin being high. Ddimer and visc is sometimes high but not usually. PT, INR, and ptt are sometimes high too. (picture)They dont think its cryoglobinemia because it was only positive once and negative a lot more times. Also, my C4 was always high or normal and my C3 was always normal, even in the test where there was cryoglobulin. (picture)The only other thing off on the bloodwork is subclinical hypothyroid. TSH is high, but T3 and 4 are low normal. I have no symptoms of hypothyroid other than being cold. And the cold could be from anemia.Please, does anybody know what this all means?I had accepted the lack of answers when it was just random blood rotting, swelling, and rashes. I know the doctors tried hard. I could live with all that stuff. But these black fingers, I cant live with it. It hurts too much.It feels like someone as healthy as me shouldnt have all these symptoms unless its connected somehow. But nobody knows how. Rheumatology thinks the rotten blood is not autoimmune because Coombs and other autoimmune tests are always normal. But hematology says if its not autoimmune, then theres no other answers. So far, I have no autoimmune diagnoses but doctors still act like I have something autoimmune.Monday I will see my NP and can ask for any tests anybody recommends.IS THERE ANYTHING I CAN DO FOR THE FINGERS AND TOES? TO MAKE THE BLACK GO AWAY OR MAKE THEM STOP HURTING?I already tried asking a pain forum for tips, but I got a nasty message (Your complaining about 2 weeks of hurt fingers! Do you understand that we have pain that is severe, intractable and forever*?* I have ddd and a herniated L5-S1 disc. I am in 10/10 agony beyond your imagination. Your hurty finger is a joke. Suck it up buttercup) so I deleted it and wont ask for help from patients again.I hope doctors will be more understanding. I get it, that there are other people who have it much, much worse. But I dont have chronic pain so I never developed a high pain tolerance. Typing this is killing me. Ive had a broken bones, a vaginal delivery, wisdom tooth surgery, and swollen joints, but none of those hurt that bad. When Ive broken a bone, its only been blindingly painful for ten or fifteen minutes, then it settles down. Then a few days of throbbing and aching thats relieved with rest and Advil. This is the first time Ive had pain that Advil cant relieve and that doesnt settle down with time or rest. I know other people with bad backs or arthritis have it worse. I dont need to be told that. But for me, this is too much. What can cause this?The doctors seem confident that its not just psychological.But I cant shake the fact that I get more symptoms when Im sad or stressed. I dont have any chronic mental illnesses, but I go through short periods of feeling down or anxious. At the hospital, I held it together when they took off the black thumb. I told myself that it was ok, that the pain was finally gone, that half a thumb isnt that important, that its my non-dominant hand, that I dont need a full left thumb to type or do most activities. When I got home, I was so happy to be pain free and I had so much to catch up on, I just didnt think about it. But then I looked at the discharge paperwork and saw that under Reason For Visit, they wrote GANGRENE, WET. I knew that the thumb wasnt good, but seeing it called GANGRENE made me feel so repulsive and sad. I spent 10 or 15 minutes just crying. It was right after that little breakdown that all the other fingers started hurting and turning black. Could all that crying have caused it?Theres also an odd discrepancy. My black fingers hurt so much but my black toes dont hurt at all. How is that possible unless the pain is all in my head?I am desperate for answers or relief if anyone can help. Thank you to anyone who has read this far.TL-DR: What causes rotting fingers, rotting blood, rotting platelets, leukocyto elastic vasculitis, swelling, rashes, purpuras, and maybe subclinical hypothyroidism but without showing up on normal blood tests for autoimmune or other diseases?

This is beyond the scope of all but the most seasoned hematologists and rheumatologists. It MUST be rheumatologic or a bone marrow disorder, nothing else fits all the symptoms. You should be referred out to Mayo Clinic or Johns Hopkins or something. I would say the rapid progressions warrants an inpatient workup until a cause or treatment can be found. If those fingers/toes get infected you could get septic pretty quick.Some type of small vessel vasculitis fits best, but theyve tested for all the obvious culprits so its hard to say why nothing has been found yet. Its definitely not in your head, but its no surprise that stress makes the symptoms worse. Stress makes a lot of things worse.I wish I could offer you more, but this definitely isnt my field of practice. Hopefully someone else has some ideas.Agreed agreed. This needs an inpatient work-up in a big academic center. We had a similar case on my MICU rotation in residency and he was getting continuous plasmapheresis while we tried to figure out what the cause was.

If one of your fingers is squishy, you need to go have it looked at immediately. If you have gangrene again it can kill you if left untreated. Im just so sorry you are going through this.So when is a black finger just Raynaud's and when is it gangrene? The right index finger isn't squishy, but the skin is breaking down and it's oozing something smelly.

OP, this is an indication that the tissue has died and has become necrotic. This tissue needs to be removed urgently. I am very concerned that an infection of this tissue could become systemic and fatal, potentially in hours.This is a definite indication to immediately head to an emergency room.I am so sorry you are going through this, but you need to be admitted and likely get surgery so that this does not become immediately life threatening.PLEASE DO NOT WAIT UNTIL YOUR APPOINTMENT IN AM

What to Expect from a Lyme Disease Rheumatology Appointment?I am a 27 year old male, about 5'10", no remarkable pre existing conditions or allergies, medical history, etc.Some (optional) backstory- I live in and work outside in East TN and various places around the country relatively frequently. I was bit by a tick around April 26 and I estimate it was attached for a few hours (less than 10). Over the next week or two I started having very general symptoms... occassional dizziness, general fatigue, a feeling of weakness, fierce night sweats (probably my biggest complaint.. sweating buckets beginning as soon as I went to sleep), some minor and intermittent joint aches especially in the knees. I measured a fever of 100.4 F on May 8 and tested myself at home for COVID and it returned negative. I also received my 2nd dose of Moderna on 4/21/2021.I eventually decided to just have a Teladoc appointment the night of May 8. The phone doc basically said it would be impossible to treat me over the phone and surmised it was Rocky Mountain Spotted Fever and he was not allowed by policy to treat tickborne illness. I went to an urgent care the following day and we decided to begin doxycycline and tested for Lyme/RMSF. Long story short the test was positive for both and they started a second 10 day course of doxycycline. The nurse practitioner at the urgent care told me I would need to see a rheumatologist, especially for the Lyme diagnosis. They referred me and my appointment is June 22.So here's the question- what should I expect from the rheumatology appointment? I feel fine, the symptoms are gone and I've completed 20 days of an antibiotic. I have a feeling the rheumatologist will kind of just shrug and say if I took 2 courses of doxycycline and I have no symptoms then he's not worried about it. What am I signing up for? Will we at least do a confirmatory test for Lyme/RMSF?

The physician can check titers of antibodies to look for previous infection but honestly given that your symptoms have resolved and you were treated for tick borne illness further follow-up really should not be necessary.Suprised they sent you to a rheumatologist for this, arguably could have been managed by general internal medicine vrs infectious diseases

Why would my doctor test my kidney infection if my finger is mysteriously injured?27F, 165cm, 70 kg, white, smoker, drinker, in Netherlands. No drugs, prescription or otherwise.Primary complaint: The middle joint on my left pointer finger is mysteriously painful. I woke up after a normal night (i.e. no drinking, couldn't have forgotten an injury) and the middle joint of my finger hurt, as if it had been slammed in a door. The pain is localized and only experienced when I attempt to bend my finger. It began on the 11th of March.Existing issues: Ehlers Danlos Syndrome, Hashimoto Thyroidism, Anemia, Asthma, AllergiesMy primary doctor saw me today and did not think there was anything biomechanically wrong, i.e. no break, no dislocation. She tested my blood for infections as I've just returned from the tropics (Thailand) but that was negative. She then ordered a lot more blood tests, liver function, kidney function, arthritis, etc.I understand testing for arthritis, but why kidney and liver function? I am an immigrant in the Netherlands, so sometimes there is a bit of a language barrier and I don't completely understand how my finger pain could be related to kidney or liver failure.

Could be many reasons. Kidney and liver function is good to have if you will be prescribing medication that is filtered by the kidney or liver. Your doctor may be worried about a rheumatologic or infectious disease which can also sometimes affect the liver or kidney. Also some STDs like gonorrhea can cause arthritis and can be tested for in the urine.Those are just basic labs.

Bad, vivid dreams please help (19F)I am 19F with a ton of medical issues. Meds are vilazodone, duloxetine, montelukast, levocetirizine, propranolol, norethindrone/ethinyl estradiol, and dexmethylphenidate. Conditions are kind of a mess right now because we are still trying to figure out a lot of them but I have allergic rhinitis, either major depressive disorder or potentially bipolar 2 disorder, excessive daytime sleepiness diagnosed as idiopathic hypersomnia but potentially narcolepsy, POTS, ADHD, and most likely Sjgrens (awaiting rheumatology appointment).I have had what I describe as vivid, disturbing dreams for as long as I can remember. I say dreams because I never wake up during them. They are very unsettling and I feel awful when I do wake up in the morning.Last night I fell asleep without taking my medications (I take the majority of my medications at night aside from the stimulant of course). The dreams I had were awful to say the least. Im not even comfortable sharing the details but there was a lot of killing, fear, sexual aspects which I absolutely hated (these aspects were not in any way a good or wanted thing), and the feeling of being trapped. As I mentioned, my dreams are always very vivid and they feel 100% real but I am not in control as one might be with a lucid dream. And for clarification, I hate violence and, if anything, I am sex repulsed. I made a throwaway for this post specifically because I feel so disturbed and ashamed about these dreams.I woke up this morning disoriented, confused, distressed, and with thoughts of wanting to self harm (which I have not done in a long time). I have these dreams often, but not always to this extent.I know medications, especially some of the ones that I take, can cause nightmares. But why would the dreams be worse if I missed my medications? And what in the world can I do to prevent these? Because I felt so terrible when I woke up (and still feel bad now), I want to rinse out my brain so I can remove the dreams from my memory. I would avoid sleep if it were possible but the fatigue and excessive daytime sleepiness make that impossible.Please help because I cant keep dealing with this when I sleep and I dont know what I can do.

Vilazodone and duloxetine are SNRIs that increase serotonin and norepinephrine levels in the brain. Abruptly stopping or missing your doses can cause low serotonin levels during REM sleep. That'll cause more intense nightmares.Might be helpful to talk to your doctor about adjusting the timing or dosages of your meds to minimize their impact on your sleep/dreams.Have you thought about therapy to address any underlying psychological issues? Someone can work with you to develop coping strategies and explore any unresolved emotional issues.

Sudden unilateral ptosis + sudden frozen back (needed wheelchair briefly)If you fancy yourself a diagnostician, have I got a case for you. 39 yo female; US; 5'3" 179lbs; Grave's, Hashimoto's, Celiac (Celiac just diagnosed in fall, others well managed with meds for ~6 years).9 days ago - sudden moderate unilateral ptosisMonday was sitting at my desk (no exertion, no recent falls/trauma etc) and back locked in place, confined to wheelchair upon arrival at hospital. Went to ER and got an acid reducer injection which did enable ambulation again, albeit with altered, ginger gait2 steroid injections Tuesday helped a little bit, still walking very gingerly. Can't bend down. Hurts to sit for long, can't get comfortable, prefer fetal position on my side laying down or in recliner - agony yesterday to lie flat for MRI and x-raysRecent appointments:Emergency eye doctor appointment 8 days ago, nothing identified --> refer to opthalmologist, apt. in 1 monthUrgent care Sunday - no tests performed, referred back to primaryMonday primary referred me to ER where x-rays performed (after identifying it as a muscular issue)Orthopedic doctor Tuesday - ordered lower back MRI. Came back showing moderate disc bulge but nothing that should be causing my 10/10 pain level, nothing surgery worthyRheumatology Wednesday (yesterday). Ordered blood work (partial results below) referral to neurologistBlood work results:High Rheumatoid factor (15.6 - ref rate up to 14)High alkaline phosphatase (134 - normal up to 121) (this has been chronically high over last 9 months, up in the 150s)High Neutrophils to Lymphocytes Ratio (NLR) - (3.89 - normal should be under 2 or 3 I'm reading a few different things here so any insight is helpful)I had a 23 and Me done recently so I have a ton of information there (positive for DQ and homozygous for HLA-DQB1:02, etc)Persistent symptoms since ~July 2022 -Extreme fatigue and malaiseExtreme brain fogWinded easily (i.e. climbing stairs)Have not taken stairs in 2023 because of weakness and how out of breath it makes meExtreme difficulty getting up from seated positionNeck/shoulder/back weakness and pain (diagnosed spinal osteoarthritis and degenerative discs in January 2023 but pain and weakness in neck and shoulders too)Vitamin D deficiencyAnemia (was barely not anemic in the blood work yesterday but was anemic in 3 other blood workups in this period)"Polyarthritis" diagnosis in February (additional subsequent Rheumatoid Arthritis diagnosis by Orthopedic doctor but Rheumatologist this week said no)Some headaches, blurry vision, confusion (not necessarily trouble speaking but trouble remembering words occasionally. I typically can't remember the $.50 word so I use the $2 one instead - using bigger vocabulary words more often - I used to be able to "mask" this better)Some dysautonomia in that I've had some Raynaud's attacks (been happening ~15 years) just sitting in my living room and sometimes if I get hot I can't regulate my body temp very easily. I will get randomly sweaty (especially on my upper lip it seems?)My most educated guesses: Either myasthenia gravis or Lambert-Eaton, considering the eyelid drooping, muscle weakness especially in trunk and legs, weird sweating, etc. Plus I seem to have every gene on the planet that predisposes you to these conditions.My biggest concern is that those two conditions pop up when your body is trying to fight off an as yet undiagnosed cancer (often SCLC and lymphomas). I am a never smoker but my husband smokes. Originally smoked cigarettes indoors for ~5 years and now has vaped indoors for ~5 years. I also have the double dose of DQB1:02 giving me Celiac. But it also predisposes me to Enteropathy Associated T-cell Lymphoma. I have an eating disorder (ARFID) that is getting in the way of proper management of my Celiac.Please ask me any follow up questions you may have and give me your best guesses. Doctor after doctor is sending me down the line to someone else and I'm afraid of running out of time. I have a 4 year old I would like to spend a little more time with. Thank you so much for even reading this far. I look forward to any replies.

I dont think you are dying!!The back complaint sounds like a classic musculoskeletal injury. Unfortunately as we get older this is more likely, it can be incredibly painful and can linger. None of these other entities happen quickly like this and you had an MRI.Myasthenia and lambert eaton are not typically painful conditions. I wouldnt diagnose one of these from ptosis, which is more often a local issue with the facial nerve. So i wouldnt go on and say you have cancer, though Dr. Google tends to give this diagnosis with any search.I highly doubt all of these things are tied together by one underlying diagnosis. You are very in tune with your body and human nature is to try to assign a unifying cause.

Gaining weight despite incredibly strict diet, rapidly losing function. Seeing second specialist (rheumatology this time) next week.I apologize for the length of this. I want to be thorough, and I need some reassurance while I wait for my referral to the second specialist from the first specialist:32f Utah 5 4 (current weight 186, up from 130) Non smoker/non drinker/no recreational drugs.Medical conditions/history: GERD, migraines, Graves, hashimotos (yes, both. REALLY.) seizures of unknown origin (not epilepsy.) gallbladder removed, sinus surgery for chronic infections, hysterectomy (one ovary left) for severe endometriosis and bleeding. Seeing a rheumatologist next week on a referral for ankylosing spondylitis based on current test results between November and now.Medications: Naproxen, Benadryl, promethazine, lamotrigine, topiramate, tizanidine, pantoprazole, Zantac, rizatriptan, gabapentin. Recently discontinued magnesium, potassium, and hydrochlorothiazide. Botox injections for migraine every 3 months.With all of that said: I finally went to the doctor for the first time in November when my symptoms first peaked. My labs were mostly normal at that point. I had gone from 130-160 very rapidly despite barely eating and it was causing extreme pain, particularly in hands/feet/abdomen. Thyroid/heart/liver/kidneys all looked fine. I didnt respond to the diuretic other than to end up in the ER with low potassium.I have changed my diet from what it was then (literally had been eat a small bowl of rice or noodles, if I ate anything, once a day, and then a few bites of dinner for months because of stomach/intestinal discomfort. Lots of water, but also drank 2/3 cans of soda a day.) I started eating fruits, vegetables, lean protein, extremely limited processed foods (essentially: yogurt, cheese, unsalted nuts, unsalted almond butters, unsweetened almond milk, low sodium/low sugar hot sauce or mustard, occasional olives, sparking unsweetened water, low salt seaweed, organic unsweetened or low sugar low salt anything if its in a bag or jar and I am not prepping it raw) I do dry beans, chicken breast, bone broth, plain Greek yogurt, plain coconut water, plain eggs w/ pepper. Kale, spinach, cauliflower, broccoli, beets, peppers, tomatoes, berries, cucumbers, etc. maybe 1/2 can of soda every 2 weeks. About 1 serving of complex whole grain/seed grains a day MAX.Despite this, and still limiting my calories (mostly due to abdominal pain and diarrhea/constipation) and also pushing through the increasing joint pain and muscle pain/spasms to be as physically active as possible (I even swam in a lake and hauled kayaks, went on a couple hikes.. although most days, I can hardly open my own medication, and have fallen in the bathroom and while dressing myself) I have gone on to gain an additional 26 lbs, up from 160-186.Most recently, the doctor my PCP referred me to repeated the blood work and my platelets have remained slightly elevated, as were my eosinophils.. but not clinically significant. My potassium has continued to be a little low. ANA was negative, ESR normal, CRP was normal, thyroid, heart, kidneys, liver still normal. 24 hr free cortisol was normal. HLA-B27 (I think thats what its called?) was positive and MRI positive for ankylosing spondylitis.In addition to the progressive weakness and pain, I have also lost control of my bladder 3x since December, have had several episodes of either very high or very low blood pressure, nights like last night where if I breathe too deeply it feels like someone is sitting on my ribs... sort of right along the level where the sternum ends. I struggle to walk on stairs and get electric shocks through my arms, hands, and legs when I walk down them or bend my neck to the side.Since the rheumatologist had my doctor tell me to take Naproxen while I wait to be seen, Ive had a bit less swelling in my ankles, I can actually see the bone. I get a couple hours where I am at least slightly less uncomfortable. I still feel like my skin is on fire. It gets itchy when I get too hot and often turns bright red. My stomach and hands balloon up when I move around, and the soles of my feet get hot and painful and sometimes turn blue. (The soles.. not raynauds... cold and heat dont change it, and its not something that affects the digits.)Does that really explain the rapid weight gain and abdominal pain despite restrictive diet? I am genuinely scared about the loss of function Im experiencing.

Just a quick clarification. You mention your complex history of thyroid disease (Grave's and Hashimotos), and I think we need more info, especially as hypothyroidism is a common cause of weight gain. You say that your lab results for your thyroid were 'normal', but with either one of these diseases the lab results would almost certainly not be normal. For reference, thyroid labs usually come in various flavors: TSH, Free T4, and depending on the occasion T3/antibodies. Do you know the specific results of those tests? Also, none of your medications is for the thyroid, and with either of these treatment is usually necessary. Did you have radioablation or surgery in the past?While both autoimmune diseases, Graves and Hashimoto's have opposing outcomes. This would make for an interesting and complex clinical picture, and with more information we might be able to help.And of course, maybe it has nothing to do with the thyroid, but common things being common I still think its worth looking into.

Of course. I will share the labs and info I have. My thyroid was the first thing I requested to have looked at when I saw my PCP. Initially, I was diagnosed after I had my first child in 2008 and my thyroid was overactive and I had thyroid antibodies that were really high. (I was put on medication.) After seeing an endocrinologist, he essentially said that I had both issues and it was rare but not unheard of. During my second pregnancy, my levels stabilized and remained stable until a couple years back when they were slightly low, but after an adjustment to some medications I was on (seroquel for sleep) they went back to stable so I wasnt medicated. The one thing that has remained high is the antibody levels. For now, my PCP has monitored them.Here is a link to the labsI added the historical and current thyroid labs, as well as the most recent labs that have been run, and a few imaging reports. If you want to see anything else, or if I didnt quite fit something on a page as well as I think I did, just let me know.Sorry it took me a while to get that up, I appreciate you taking the time to look over it.

Well, I doubt it's related to the thyroid. Your free T4 is normal, and it's free T4 that causes the symptoms of hyper or hypothyroidism.

34F, 54, 125 lbs, nonsmoker, being treated for lymphoma and lupus, seeking oncology and rheumatology guidance for cohesive treatmentHello, I had to add all that info since the auto mod deleted me for not having all of it. Im about halfway through AAVD chemo for stage 4 Hodgkins and see a rheumatologist for lupus. I feel theres a disconnect between oncology and rheumatology in my treatment and Im not finding much online about rheumatology/oncology, if that is indeed a field that exists. Im willing to travel a few hrs from NJ for treatment, just hoping theres a specialist who is knowledgeable in the treatment of both conditions since lupus, its treatment, and chemo put me at risk for more cancers. Looking forward to any suggestions anyone has. Thank you.

That field does not exist. The closest medicine gets is with multi disciplinary centers like Mayo or Cleveland Clinic where a bunch of different types of doctors collaborate on your case. I'm sorry you are going through this. Is there some reason why you think it would be best if they were the same person? Is something wrong with your current team? You said there is a disconnect but what does that mean? Perhaps if you talk with both providers, or their office staff, you can have your records synchronized between the offices so you don't feel that way?

Could I have Rheumatoid Arthritis? 24FI'm 24 F. I take Adhd medication- methylphenidate. I also take a vitamin d and b12 supplement. Trying to be referred to rheumatology.I didn't know where else to post this but I desperately need advice. Back in December 2022 I noticed a small lump appear on my right hand on my ring finger. I initially put it down to an injury or chilblains as the weather was so cold. But on New Years eve I developed swelling in my hand that didn't quite go away but would fluctuate.Fast forward to Mid-january 2023 the swelling has gotten worse on my right hand with stiffness setting in and it becoming harder to bend certain joints. I called my doctor he told me to go to A&E to make sure I hadn't injured my hand and sent me for a rheumatoid blood test as my mum has rheumatoid arthritis.Went to A&E no hand injury so then I was waiting for the blood test. I had my test and everything came back normal. But my hands were getting worse, stiffness was worse and my left had was also suffering with stiffness, no swelling though. I had a hand examination at my doctors and they confirmed the stiffness in both hands on all my joints. Also the stiffness doesn't go away, its worse in the morning but only gets a little better. I started to notice other things though: weight loss, sweating, odd fevers, appetite going weird, the fatigue has been horrendous. I'm losing hand strength and can't carry shopping bags for long anymore.Present day: I've lost at least a stone/ stone and a half in weight since December. I was 87kg last January (2022) now currently 76kg. I want to make it clear that I've done nothing to change my activity level or diet. I've been working in a bookshop the last 2 years. The tiredness is awful, the stiffness seems to be spreading to my knees and shoulders. Even when I'm walking all day they just feel tight. There was a day my shoulder hurt so much and felt so heavy I couldn't actually pick it up. My overall mood is on the floor, I feel so sad all the time. Its hard to hold my toothbrush, hairbrush etc. I can't pull up a blind some mornings. I have a deformity beginning on my finger.At recent doctors appointment my doctor dismissed my concerns and said I just have chilblains. So now I'm worried I've got everything wrong and I'm just being stupid. I know no one can diagnosed me but I just need advice about my hands as I'm at my wits end. Thank you!

With a family history of rheumatoid arthritis and the symptoms you describe (worse in the morning, systemic involvement, progressive worsening) a rheumatological process is definitely on the table. What specific blood tests have been done already?I take it that youre in the UK given your terminology, and from what I understand generalists act as cost-saving gatekeepers which is appropriate from a systemic standpoint but can be challenging as a patient who feels like theyre not being heard. I would seek out a second opinion if you feel like your current physician isnt listening.

The blood tests I have had already are: Rheumatoid factor- my result was < 20.0 iu/ml Serum urea level- result was 2.9 mmol/L Total Vitamin D- results 29.5 nmol/L Serum ferritin- results 30 ng/mL B12- results 155 ng/L Folate- results 3.7 ug/LI've had on and off deficiencies in Vitamin D and B12 since I was 13. Especially Vitamin D, I had a serve deficiency at one point.

I would push to get an anti-CCP antibody and to see a rheumatologist. Might even have utility in checking an ESR / CRP to check your current bodily state of inflammation. Theoretically even if the RF and anti-CCP are negative you can have seronegative RA. Recognize that were anchoring pretty heavily on this given how youve presented the story, so be open to the idea that it could still be something else if the specialist has other thoughts. Worth exploring though, because the benefit of starting on biologic medications in the case of RA is to slow down the progression of joint deterioration.

Autoimmune CVID Question - Immunoglobulin Panel27F | 5'8 | Caucasian | USA | Autoimmune concern | No current med except otc Tylenol/Ibuprofen | No smoking/drug use | Very rare drink, only celebratory (weddings, birthday, etc) |To keep this as short as possible, I am experiencing general widespread aches and pains (I say my bones hurt a lot/heavy feeling legs), muscle weakness, joint pain, rashes, petechiae, easy bruising, itchy skin, swollen left axillary lymph node, gastro problems (diarrhea to constipation), chronic sinusitis and extreme fatigue. I have had these symptoms for the past two years or so, but my rash has spread onto my hands and the swollen lymph node will not go down - it doesn't hurt but I do notice it in my arm pit and it is visual when I raise my arm. I went to the doctor, since all my complaints were kind of general and vague she ran an ANA - positive 1:160, speckled. I was sent to Rheumatology, the Rheumatologist checked for Lupus, said I do not look like a typical Lupus pt and all my other Rheum bloodwork was normal (ESR CRP etc). He explained healthy people have positive ANAs. He did want me to go to Dermatology for the rash. He didn't think it looked like Lupus but did say it looked suspicious. He agreed that something was wrong with me as he believes skin is a big indicator in overall health. I went to my original doctor to get a referral to Dermatology - she decided to run an allergy panel and refer me at the same time so the Dermatologist would have everything in my chart they may need. Everything was completely normal, no allergies at all except my igE was at 3 which she flagged as low on my chart, even though the reference said 2.5 was low.After looking low igE up, I am not a doctor so I obviously do not understand a lot of the terminology, but from what I can gather it seems that people with autoimmune conditions usually have a low igE. Not that it is not necessarily a diagnosing factor for anything, but that the two usually go hand in hand *from what I can understand.*My question is: should I request a full immunoglobulin panel? Does having a low igE warrant that? I wanted to touch base with my doctor about the igE but did not want to ask her for an unnecessary bloodwork if igE doesn't correlate with an immunoglobulin panel - if that makes any sense? lol.I have read about CVID and would like to rule this out in my medical journey.Hopefully this all makes sense! Thank you for your time!!

A low IgE might not warrant a full immunoglobulin panel on its own, but considering your symptoms and positive ANA, I would request one.

Rheumatology: a positive ANA then a negative one days later?Male/ 38 years old/ USAI had some tests done with my primary care doctor because I had generalized muscle aches, felt run, headaches and cracking joints for a few weeks on and off. I had blood work done and my CRP was 26, my ESR was normal, my rheumatoid factor was normal, my anti-CCP was normal, my ANA IFA was 1:80 positive. Speckled. , and my Lyme panel was normal.I saw a rheumatologist 4 days later who did a repeat of the blood work and those results just came back a little differently. The CRP went down to 15 and the ANA Multiplex Reflex 11 was negative. What do I make of this?

ANA 1:80 is considered low positive. Some might say negative. Labs like this fluctuate frequently especially if not super positive like 1:320 and higher. And ANAs notoriously fluctuate based on blood storage, travel and lab technician. Its clear based on your CRP that you have inflammation going on. It takes time to garner a rheum diagnosis for most people because the picture isnt crystal clear at the first visit. See what your rheum has to say as the whole gamut of labs is needed for context.

Thank you doctor! My rheum called and said he thinks it could be a post viral syndrome, especially since I had Covid 3 months ago. Although I recovered fully, it knocked me out for 16 days. He said viruses or post viral syndrome would explain my High CRP, normal ESR and borderline ANA and cause Inflammation, and even low positive ANA titers. Does that sound right?

Could be. COVID has been known to cause transient positive ANA. In addition, something like 20% of the general population has a false positive ANA up to 1:80 so we dont read much into it unless the titer is higher.

Could I please ask if the results would be higher or lower if there's was a lot of travel and storage involved. I got the test but the lab they sent it to was quite far away (a few hundred miles)

Lower. When a sample travels it degrades in quality and some dont use the same ANA tests. Labs also run tests on different days. Usually ANA is M-F in most labs but some with lower volume may do M/W/F which means your sample may sit for a day or a weekend if you have labs drawn on Friday.

Doctors please help my little sister, she can't walk, I'm afraid she's going to die8F, 78lbs, no medication. She was in the hospital for a long time but they discharged her. She is still in pain, please help. I attached the notes of her discharge.The patient is an 8-year-old white female with five weeks of fever, rash, arthralgias. Last month, the patient noted foot pain involving both left and right feet, as well as a blotchy pink rash on the leg that proceeded to spread to the trunk and then arms and then face during that week. The patient had low-grade fevers with temps to a max of 101. This has progressed to the week prior to admission higher fevers with T-max of 103.5. The patient has endorsed muscle pain, particularly in the right leg and arm, and PMD had seen the patient this week noted right knee and right index finger swelling. There is no noted weight change over this time period. No noted diarrhea or swollen nodes. The rash the patient described the week prior had an acute abrupt onset and 5-10 minutes later would dissipate.Rheumatology was consulted on the patient from admission. Lab studies were sent to rule-out an infectious etiology for rash. Strep culture was negative. EKG was also performed to rule-out a prolonged PR interval. EKG was within normal limits. A DNase B antibody was 547 and an ASO titer was 300. While results were elevated, the patient did no meet clinical criteria for rheumatic fever and diagnosis that was most likely entertained was systemic JIA. Further lab work included an ANA which was negative, rheumatoid factor which was negative, a CRP on admission was 8.6 mg/dL with an ESR about 80. CK and aldolase were within normal limits. Ferritin was elevated at 663. LDH was within normal limits. CBC was reassuring with normal white counts, hemoglobin and platelets; findings nonsuggestive of leukemia. Hepatic panel within normal limits. A chest x-ray was done to rule-out mediastinal mass, and that was negative. From an infectious standpoint, Parvo, CMV, EBV were all negative. Clinically the patient was noted to have a salmon-colored transient rash that would come and go throughout the hospitalization lasting a matter of minutes. No definite arthritis on examination. Oncology was consulted given the history of arthritis and fevers. It was felt in the setting of normal cell lines in evaluating a smear, which revealed no blasts, no indication of hepatomegaly or splenomegaly and uric acid and LDH within normal limits and x-ray that was normal, they felt that further oncologic evaluation was not indicated and a bone marrow was not indicated at that time. Cardiology was also officially consulted because the patient had a 2/6 ejection murmur on the exam. Cardiology felt the murmur was a flow murmur and evaluated the EKG, which they read as within normal limits, and decided an echo was not indicated to rule-out valvular disease in the setting of the rash and arthritis in an attempt to workup acute rheumatic fever.

Internal medicine doc here but in my differential is Adult Onset Stills Disease which can still present in children and Rocky Mountain Spotted Fever. The salmon colored rash lasting a few minutes is textbook for Adult Onset Stills Disease.I'm assuming she had blood cultures done at one or multiple points during her admission. Did she have a procalcitonin tested? Did she receive any antibiotics? Any steroids like solumedrol, prednisone etc? Does she still have joint pain? Does this rash show up only during febrile episodes? Any auto immune conditions in the family like lupus, rheumatoid arthritis, hashimotos?

As soon as they mentioned the salmon-colored intermittent rash I was like STILLS! Very rare but once you've seen it, you never forget it. Anakinra injections worked great for the patient I worked with, along with a major organ transplant due to damage done by the disease.

I think we need more information. The workup is well described here, and I agree with their consideration of JIA vs. rheumatic fever vs. oncologic. But Im hoping theres more information than this. What did they ultimately diagnose her with when she was sent home? Did they do anything to treat her (i.e. IV or oral steroids)? If they did treat her, did anything help or improve her symptoms at all? Is she following up with any outpatient specialists? Again, their workup sounds thorough, just seems like some info was left out about what they actually did to treat her.

Hi Dr, they diagnosed her with rheumatoid arthritis on discharge and prescribed her something, my mom doesn't think it's arthritis.

Arthritis in this case is not exactly the same as what most people think of as arthritis. Older people get osteoarthritis where the cushioning between joints breaks down and you get pain from bone grinding against bone. Rheumatoid arthritis (and JIA, or Juvenile Idiopathic Arthritis, which is much more common in kids) are autoimmune disorders where the bodys immune system attacks itself in various places. One place is the joints but it can also cause a whole host of other weird symptoms including fever and rashes.In this case, what youve described sounds highly rheumatologic in nature. RA and JIA both fit in that category, though Id put my money on JIA based on her age and symptoms. A pediatric rheumatologist is your absolute best bet to get this figured out and get her on medications to treat and prevent flare ups like this.

NAD.OP, Is the rash painful and burning? Do they resemble hives?I ask because two of my neighbors and three other friends, ages ranging from 16-65 have something very similar. Doctors can't explain it. The 16 year old has been at Stanford Children's for almost a year, and the 65 year old had success being treated with steroids after only a month. Same affliction.They look like hives yes but they come and go on multiple parts of her body within minutes. She says it hurts where the spots are as well

Juvenile Rheumatoid Arthritis, also known as Juvenile Idiopathic Arthritis, is different from old peoples arthritis. This is an autoimmune problem that needs to be followed with a rheumatologist. The questions and confusion you and your mother are having are both very common and understandable.This is a complicated condition - you and your mother should both go to the next appointment to ask all these questions and more. If you have doubts about her diagnosis or want the test results or discharge summary explained better, talk to her rheumatologist ASAP.Keep taking the NSAID she was prescribed as directed - this is a safe long-term treatment to reduce inflammation (you said Indomethacin in another post). Dont stop her treatment on your own without talking with her doctor.Read more here:https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthritis/juvenile-idiopathic-arthritis

I don't doubt the diagnosis but what worries me is that OP stated they live in Upstate NY. Most people around here (I'm by Fort Drum) have to travel to Rochester, Buffalo, or Syracuse if they aren't close enough to NYC. Even worse, if you can't private pay or don't have commercial insurance (translation if you have any form of Medicaid) it can be MONTHS waiting for an appointment, and should an 8 year old go without treatment for several months?Just to give you an idea on time frames: my children's my pediatrician started the process to refer my disabled 12yo son to pediatric endocrinology the 3rd week of August.I got the call LAST WEEK to make an appointment for March 2023 in Syracuse. So that's nearly 7 months from start to finish. FWIW our pediatrician doesn't think my son's issue is endocrine related but due diligence, you know?And this isn't new. Had to bring same boy child to Buffalo when he was 6 for ENT and neurologist appointments (well, Rochester was a possibility but I have family in the Buffalo area I can stay with). Same boy also went to Westchester outside of NYC for medical genetics because the waiting list for Syracuse was 2 YEARS LONG the last I asked and the downstate appointment was "only" a five month wait. But, family in the area, so worth the trip to see family too.Sorry for the novel. Thank you for being a pediatrician. <3

This is true for an outpatient making a new patient appointment that is not deemed medically urgent by either the referring physician or the office receiving the referral.However, when a patient is seen as a consult in the hospital, they are typically seen in relatively short fashion as a follow up patient by that consulting sub-specialist. (EDIT: for diagnoses that need it. Not for every general admission.)A patient with a new diagnosis of JIA would typically be sent home with a 2 week course of an anti-inflammatory and be seen by the consulting rheumatologist or a colleague within that time period to plan the next phase of treatment. This type of case is not discharged without solidifying the plan for follow up.

Thank you for your response, I cant recall having that experience. I think it may have happened once with my son when he was an infant (pediatric GI after his second hospital stay) but admittedly my memory is foggy.

This sounds most like JIA to me. Once a patient is 16 this can be termed Stills disease, which has a characteristic evervescent rash like your sister has. Has she seen a PEDIATRIC rheumatologist? How far are yall from Rochester, NY? Dm me if you prefer.

We are a little south of Albany. Are JIA and Stills technically the same thing? We Have an appointment with pediatric rheumatologist next week. Could the reaction have been caused by a vaccine? She got it two weeks before the symptoms started

I may have said it wrong- Stills is a name given to systemic onset juvenile inflammatory arthritis, its a type of JIA. Peds rheum is exactly who yall should be seeing and they should be able to Advise if her symptoms could be vaccine related or completely different. Keep us updatedSounds like JIA. Episodic rashes and fevers fit. Ferritin supports the diagnosis.Youre mom is wrong and this absolutely sounds like rheumatoid arthritis Im sorry to say. She probably doesnt understand that rheumatoid arthritis is not just joint pain but can be fever feeling generally sick last week the interesting rash that youre describing and other auto immune future so its not like osteoarthritis that you would see in an older person for example

Do doctors take offense to their patients going to a different practice/not believing the diagnosis?Demographic Info: 24F, 54, 120lbs, white, ~1 year duration, location of pain is basically the joints in my hands, feet, ankle, wrists, knees, and elbows. Non-smoker.Hi all. Sorry if this isnt allowed, Im new here. Ive been to quite a few doctors in the past 10 months (1 Orthopedic, 2 Rheumatologist, 2 Primary Physicians) for the same issues (joint pain primarily, with some secondary concerns). I believe I have an autoimmune disease and suspect its rheumatoid arthritis, but now Im suspecting lupus after my most recent rheumatologist visit. They all have told me (besides the one primary care physician) that it is not rheumatology related, but they have also all either given me either no answer on what it could be or an answer without any real evaluation. The disease/disorder that they say it could be also doesnt match my symptoms at all.Im really at a loss right now, because I want to believe that they have my best interest at heart, but for me to believe a diagnosis, either the symptoms have to match or there needs to be some kind of test result that indicates something.If I go to a new practice that is two hours away, would that look bad? I want answers, but the practices near me cant provide answers using quantifiable/visual data.

I think most doctors don't care. What can get a little bit annoying is when there's clearly nothing relevant to said specialty going on and they keep seeking multiple opinions. It'd be hard for TWO rheumatologists to miss both RA & Lupus, considering these are probably the most bread and butter diseases they see (other than fibromyalgia). But feel free to try a third (technically 6th opinion). You should go to an academic center if you have not.

The reason I dont really trust the answers of the rheumatologist is because of the lack of testing/evaluation/time really spent trying to understand whats going on. If a doctor ordered a bunch of lab work and based on the lab work decided it was/wasnt something, I would believe it but they barely looked at my joints, and one flat out said that they dont believe my pain

Not saying this is your case but an example would be a kid hitting his head then acting normal and coming into the ED. How could you tell he didnt have a head bleed. Well, it is kind of what I do and I know which kids should get a head CT and which shouldnt. So maybe they are seeing something that says no.Another problem is when I see that people have gone to many doctors, I instantly think they are doctor shopping for the diagnosis they want. It definitely biases me and if you go to a rheumatologist, I am going to assume they did their workup, so I am not going to be looking for anything rheumatological. So I am even less likely to draw labs.Not saying either of these things are your case and maybe stuff is getting missed which is a bummer. But all in all, no I dont mind if people get second opinions.

I get this vibe a lot too, and I try to bring up questions, but then I get talked down to for asking in the first place

A big part of medicine is learning to read research and interpret the results. You can find a study showing practically anything (one that springs to mind shows no benefit to wearing a parachute vs not wearing one when jumping from a plane). That doesn't mean the information is valid, or valid in the slightly different context to which it often tries to get applied.Doctors generally appreciate an interested and engaged patient very much. We don't appreciate someone who thinks they know better, especially if there are some obvious, fundamental gaps or flaws in their knowledge. These knowledge gaps may not be addressable in a reasonable time frame, so many of us won't bother to try.We (usually) aren't just gatekeeping treatment, there are sometimes significant potential harms from engaging in whatever revolutionary therapy has been suggested online.Actual expertise can sometimes be indistinguishable from ego, depending on what you go into the consult looking for.

You will have to wait a bit as a new patient but that is normal. I referred someone with MS to Mayo's clinic and they did an amazing workup--that person goes there annually now for follow up. I would start by going online to their website for JH and reach out, see what conditions they specialize in. https://www.hopkinsrheumatology.org/make-an-appointment/ I don't have experience with which centers in the country are considered the best for your condition but you can definitely research that too. Any place where you make an appointment will let you know where to have your past records sent, however be prepared to have labs and tests repeated for thoroughness.

Nobody cares. They'll go about their day and think about other things. I'm sure if you see enough rheumatologists, somebody will diagnose you with an autoimmune disease. You can always find that 1/10 dissenting opinion if you see enough of them. Same with any other common disease/complaint in another subspecialty (IBD in GI, heart palpitations in cardiology, etc). See enough of them, you'll get a diagnosis attached to your medical record.It's up to you decide if all the other doctors were just lazy/stupid and if that final rheumatologist you found that agrees with your self diagnosis is actually correct.

F33 - fingers go pale and numbMy best friend, f33, has been having this on and off for years now. She asked me to post on Reddit.Shes always suspected Raynauds Disease. Her fingers go pale white, tingly like pins and needles, and numb. It happens at least once a month.Ill add a photo in the comments.Is there anything she can do? Would there be any long-term issues?

It's Raynaud phenomenon. Even though it's sometimes linked to some rheumatological conditions, usually it isn't pathological. Consider going to a specialist in family medicine or family medicine if it causes discomfort or if there are other symptoms in association.

[F26] Fingers swollen, stiff, w small 'lumps'/bumps around joints?For the past two weeks + my fingers on one hand have all been pretty swollen and stiff, to the point where I haven't been able to bend them all the way down. There has also been some redness on some of the joints. However, in the past week as the bigger swelling has gone down a bit/the problem has persisted, I've noticed small bumps around the joints most of these are kind of hard to capture in pics, but you can feel them lightly running your finger along the skin (i.e. you don't have to press down to feel them). See pics: https://imgur.com/a/TQRDVQSI've been finding this really painful, especially as I work typing all day so it's not been ideal. I've had a p busy 2 weeks so haven't made it to the dr yet, but also keep thinking its about to resolve itself and it just keeps on going Not itchy at all, just painful.They're worst in the morning in terms of swelling by the end of the some days I've nearly been able to get them all the way down, or get some of them fully down, & I think its on the way out but then they're just as swollen and stiff the next morning. EDIT: Just realised I should probably say I haven't injured or burnt the hand/fingers recently, or at least if I did it was so unmemorable I really doubt it is the cause!For the past ~year I've had a fair amount of joint pain and some stiffness which is worst in the mornings, mainly in my hands & knees. However, never had it where it lasts throughout the day for so long & the little bumps are also rly weirding me out. Does anyone know what this is??? Or how I fix it?? Should I get it checked by my GP or is it likely to self resolve?I've also been experiencing a lot of other health complaints (you can prob see in my reddit history lol), like recurrent episodes of mouth and genital ulcers, rashes, etc. All my blood tests ordered by GP have been clear & generally normal tho have all been done when im generally asymptomatic had one while at A&E for the first flare up of the genital ulcers & had high CRP and monocytes (CRP was 14.9, monocytes 12% tho monocytes have been between 0.85 and 1.09 in other blood tests which I know is above the 'normal range' in some labs but not the ones used here). So far my GP and some of the community referrals I've had (dermatologist, ophthalmologist) are a bit stumped waiting on two hospital referrals atm, one for patch testing and one to see a specialist vulval dermatologist. All of the community referrals I've had have suggested my GP refer me to rheumatology but he can't with normal bloods (& wants to wait on hospital referral first to see what they say).

Rheumatologist here: I agree you should see a rheum. It sounds like it might be some sort of artritis, but it has to be seen in person before a diagnosis could be made. You don't have psoriasis, uveitis or an inflammatory bowel disease? Swelling in other joints? What is your ethnicity? In case of genital ulcers, we should also think of diseases like Behets, but like I said, it should be seen by a rheum.A bit odd that he can't send you with normal lab tests. Clinical presentation is way more important than a blood test.

My hands keep turning yellow. Can anyone tell me why?Im a 36F and I have Sjgrens syndrome and endometriosis. I take Plaquinil, hydroxyzine, and a DIM supplement. My CBC, rheumatology bloodwork, and liver bloodwork were all fine. When it happens, my hands sometimes feel a bit numb.

If you have a question about something visual, like a skin condition, please include one of preferably more of the pictures in your post as an imgur.com link. It makes it easier to help with something when it can be examined visually.

F19 ANA development (possibly rapidly?)So context: I'm not allergic to anything and never have been. In November of 2019 I had what I thought was a bug bite on my elbow that exploded into full hives and three days later I was in the ER getting an epinephrine drip (I think. I was super out of it and my mom was too beside herself with worry to focus on what they did) because it developed to the point where my ears and lips were swollen and my throat tightened up significantly. Following that, I've been on heavy antihistamines (A and B) and can't get off them without the hives come back. I've also been having joint pain randomly since then (wrists and ankles primarily)In January of 2022 my allergist ran a lupus diagnostic panel on my blood but there wasn't anything other than general inflammation flagging the systemProblems continue to occur and my former pediatrician got me in with a local rheumatology clinic. I finally get in December 2022 (I'm in college and it had to be while I was on break) and I get the results and I have speckled+homogenous ANAs at a 1:160 ratioTL;DR ANAs went from not showing up to 1:160 in the span of 11 months. Any clue what's up?

An ANA is a nonspecific test, not a diagnosis. https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Antinuclear-Antibodies-ANA

transient ekg changes?I am a 24F, 5'3, 160 pounds. Location on body: heart duration of complaint: since December 8th, 2022. Symptoms, nearly fainting randomly, sharp chest pains that come and go, lightheadedness that gets worse at times, also knuckles, knees, and hands go pale or purple randomly. Concerned about poor circulation. Meds: none, medical problems: sjogrens syndrome, mild anemia, rheumatology suspects dysautonomia, asthma, sleep apnea (use CPAP), The ER did an EKG last night and in the notes it said the t wave depression was consistent with incomplete right bundle branch block. Yet I went to urgent care today for the same chest discomfort, lightheadedness and near fainting episodes (with seeing colors) (didn't want to go to the ER again) and they showed a normal EKG. Can these changes be trainsient and induced by stress, or lack of sleep? I am also concerned my body is shutting down because my body temperature is lower then it usually is. It's usually 98.5 but it's been between 95-97F these past few days let it can't regulate itsself.

They can be transient. They can also be due to improper lead placement

Help interpreting liver testAge42Sex fHeight 54Weight190Race CaucasianDuration of complaint dates referenced on theLocationAny existing relevant medical issues? so many lol RA,hEDS,Endometriosis,Asthma,Current medications, Zoloft,Simbicort ,prednisone, alburtol,muscle relaxers ciplopram ? ,NambutoneALT 0 - 41 U/L 4/4/21 19 10/8/21 20 8/29/22 346 8/30/22 342 8/31/22 352 9/10/22 316 9/17/22 296AST 10 - 40 U/L 4/4/21 14 10/8/21 21 8/29/22 215 8/30/22 194 8/31/22 195 9/10/22 193 9/17/22 186

You have active inflammation of your liver. Not sure what the cause is. Could be some autoimmune process, fatty liver, meds, supplements, etc. Favor the first two

ostive ANA test, titer of 1:320 and speckled pattern, but negative Connective tissue testI'm a 35 yo Caucasian female, 5'5 and 170 lbs (back to back pregnancies), I vape, I take Omeprazole and lyrica 200 mg daily. The lyrica is for seizures, not pain.Ok, so I just had a bunch of labs drawn, because I've been having numerous symptoms of an autoimmune disease. Chronic fatigue, mouth sores that will randomly show up, lots of head aches, severe random bouts of pain that show up in joint areas that debilitates me when they "flare up". Crippling anxiety, and depression is worsening. And lastly, a random rash that will spread across my cheeks and nose, and sometimes radiate into the tips of my ears.I had a positive ANA test, but the more specific tests showed that I was negative for connective tissue disorders like lupus, RA and sjogrens to name a few. Everything looked fine, and my doctor told me that I probably just have inflammation somewhere in my body.My questions are:. Could I still have something like lupus, even tho the CTD labs were negative, but ANA had all 3 parts show abnormal results? And, this isn't my first positive ANA test. It happened 6 years ago, but nothing further was looked into. Where do I go from here to get better answers? All these symptoms are debilitating my life.

techincally you could still have something on the spectrum of connective tissue diseases with current antibodies negative, but +ANA are pretty common in the health population. best bet is probably continuous follow up with a single primary care doctor, and referral to whatever specialists they think best.

They ended up referring me to an RA. This is the second time I've had a positive ANA test within 5 years. The speckled pattern is what's making me wonder. I have more of the symptoms of an autoimmune disease, than I don't have. I hit almost all symptoms of moderate lupus, without kidney problems, but I HAVE within the last year, had protein in my urine, but I was pregnant at that time. There's a lot going on I feel kinda dismissed by the doctor. It's almost their discretion to diagnose, because of symptoms and positive ANA alone. I've read on many medical documents that a negative anti ds is not absolute to not having an autoimmune disease. I've heard it's hard to get diagnosed, so hopefully the RA can give me some more definite answers, once I actually get in to see them :/

lupus had a discrete diagnostic criteria, it might not be as discretionary as you think. unfortunately the symptoms of many rheumatological diseases overlap heavily with many non rheumatological conditions. best of luck.

6 year old dying from ARDS all labs are negativeHello, on March 15th my 6yr old son had a fever and cough. This continued through March 17th. He seemed fine the entirety of March 18th. On March 19th he started presenting with a full body light petechial rash and fevers. Appetite, fluid in take and behavior were all very normal. Would occasionally become sleepy with the fevers. Fevers would come down with Tylenol. Over the next two weeks the fevers became more frequent but were still easily treated with Tylenol. On March 31st he began to lose energy and didnt really want to get out of bed. On April 1st he started refused food and drink. The early hours of April 2nd he began vomiting. We had several appointments with his PCM, urgent care, and nurse telehealth during these two weeks. All advising its just something viral and should resolve on its own. After refusing food and drink and then vomiting we decided we couldnt wait the 24 hours to his next appointment and took him to the emergency room. He began requiring blow by O2 while sleeping from night one at the hospital. The petechial rash started to become severe in places where he had any medium to heavy pressure (blood pressure cuff, being held for accessing his port a cath). On April 4th he began needing supplemental o2, between 1.5-5L. After a week in the hospital he was diagnosed with a severe CMV vierma infection. He was started on gancylovir to treat on April 10th. After a few weeks of treatment his CMV levels have finally come down to the 100s (as of early this week). On 4/13 he was out on high flow o2 due to hypoxia. He continued to range in requirements of 15L-30L and 60%FIO2 -100% FIO2. We were advised his lungs would begin to heal as his cmv number declined which has clearly not been the case. On 5/1 he was rapid-ed to the ICU due to expected impending respiratory failure with hypoxia. In the icu he had episodes or high hr, blood pressure, and low O2. However, these episodes were short lived at the beginning and after they were over he would go back to his normal goofy self. Over the next 36 hours his episodes became longer and more frequent. He has a planned intubation set for May 3rd at 6am and a planned brohncoscopy set for May 3rd at 9am. Original plans were to begin attempting ex-intubation post procedure. However at approximately 3am on May 3rd he had an episode that did not resolve. He was placed on a ventilator which failed due to CO2 build up, oscillator was attempted and failed due to CO2 build up. He was then placed on bivalve ecmo on max pediatric settings. He remains on max ecmo settings to present day. He has since been diagnosed with ARDS. He has had an extensive infectious disease work up and rheumatology work up. Every test result has come back negative. Tests show high levels of inflammation. Doctors at our current hospital refuse to do a lung biopsy due to expected death during or as a direct result of the procedure. Please help. We are being told were reaching the end of our options here. We have a second opinion request put in with Boston Childrens Hospital but are willing to travel anywhere that may be able to help him. I can provide any and all test results you need to help and the team here is typically willing to run more with plausible explanation. He has a complex medical history as well be no full encompassing genetic diagnosis.He is currently on anti fungals, antivirals, and antibacterials. He also has a BMX drip for a diuretic. He is on several medications for sedation and pain management for ecmo.

I am so sorry to hear about your son. I have a child about that age, and can't imagine.CMV is not a typical infection in someone with a healthy immune system, usually we see it with transplant or lymphoma but there can be congenital immune system problems that predispose to severe CMV. It can certainly cause all of the symptoms your son is showing including the petechial rash and severe pneumonitis leading to ARDS. It can affect nearly any organ.However CMV can also reactivate due to stress from other issues so it is difficult to say if this is the cause of his symptoms, or just a sign of how sick he is. While it is risky to do a lung biopsy in a person on venous ECMO, if there is no diagnosis within a week it is reasonable to proceed with doing this, with fairly good safety outcomes.https://pubmed.ncbi.nlm.nih.gov/27894766/The most important thing though is if the treating physicians think not only is it safe (there are other issues such as clotting/platelet disorders beyond ECMO anticoagulation) but if it will change management. Unfortunately a large percent of biopsies will be indeterminate - just showing nonspecific findings of diffuse lung damage from ARDS - and the ones that do change management are generally because they find something that is not treatable. I would entirely defer to your physician team here. They also want very much what is best for your child - doctors and nurses care much more than you may see about thing turning out well - and have the data and expertise to properly advise you.If it is CMV, then the inflammation from the infection will lag well behind the time the virus is cleared with antiviral therapy. He may just need time for the inflammation to improve and then to heal to allow decannulation.

Thank you. I fully believe the team here is doing everything thing they can think of. Theyve had entire departments sit down to review his case in multiple departments. The reason we began looking for second opinions is that two of the doctors here on his primary team recommended it. It is very comforting to me that they care more about finding answers for him than being the ones to find the answers. I cant speak enough to how much that says about them as doctors and people.In regards to the cmv inflammation lingering in his lungs. Would there be a high level of infection in that area if a pcr was run from a sample from there if thats what was causing his severe inflammation? If so, would a more aggressive dose of his current antiviral help with it?

That is reassuring to hear. Sounds like they are doing everything they can.If the CMV is the cause, there's unlikely a high level in the lung if any. The antivirals work reasonably well if there's no resistance, the dosage is generally more than necessary for maximum effect, the levels of CMV in the blood can be tracked, and my guess is they are now at worst quite low.Most of sepsis is instead the body's response to an infection. As the immune response ramps up it starts being less and less precise and the rampaging army of white cells causes widespread injury. This continues after the infection is completely cleared despite a counter-inflammatory response that is trying to resolve all of this overactivity. In fact, the counter-response can be just as harmful if overactive, and there can actually be a state of too much and too little immune response at the same time. This is particularly dangerous since it opens things up to other infections.We actually still don't have very good tools to helpfully manipulate this immune response despite decades of research. There are dozens of therapies that are helpful in mice but later failed clinical trials. Sepsis is very dynamic and complex, nowhere near as simple as "on" or "off", and until we are able to adequately characterize it in individual patients treatments will continue to mostly be limited to the infection itself and "supportive care". Fortunately this is still often sufficient, and we've had good outcomes even in patients who were on ECMO for over a month.

NAD but a fellow ICU mom. Been in twice for my 2yr old and multiple hospitalizations in between. Its a very scary place. Just wanted to say I feel you and hope for a good outcome for your little fighter.

What led to your son having a port?I am sorry this is happening. Has your boy been evaluated for HLH (hemophagocytic lymphohistiocytosis)? ARDS is not a common manifestation of this, but considering the situation of runaway inflammation and that it is occurring in the context of CMV infection, this has to be considered. You can see inappropriate immune stimulation co-occurring with frequent infections and immune deficiency due to there being a milieu of overarching immune dysregulation. Texas Children's Hospital and Cincinnati Children's Hospital are particular specialists in treating these syndromes. I doubt that transfer of a patient on ECMO is possible, but those facilities may at least be able to provide some guidance.

Thank you I will ask him team if this has been tested for!Agree with HLH assessment, very tricky disease and its not clear if he was evaluated for it, but sounds like a reasonable suspicion.

Hey OP! I am sorry that you are facing this trying situation. My heart goes out to you and your child!From what you have described, it seems that not only you, but also the doctors are doing their best!The damage to the lung needs time to heal, something that has become a luxury for your child.As you have stated, all other infectious and rheumatological workup is negative. So, they might have tried steroids or intravenous immunoglobulin to tide through this crisis.We just wait, for your child to fight this through!

Thank you. Theyre nervous to attempt any immune suppression treatments without a diagnosis due to how severe his CMV infection was.

Well ivig can help. Your child's kidney function test is fine? Is he requiring any inotropes to maintain blood pressure?If kidney is fine and not requiring inotropes ivig might be tried if not used before.

Kidneys took a hit due to the aggressive BMX drip to try and alleviate the pulmonary edema. He was on a drip to help with hypertension but has since been able to come off of it in the last 36 hours. Docs were concerned about heart complications as to why he suddenly doesnt need it anymore (blood pressure has been a big problem since being on ecmo) however his echocardiogram came back normal.

Ok, ivig is contraindicated in renal failure. So, they might bide for time till kidney function improves. It is reassuring to hear that echo is normal.

rheum! Would an underlying autoinflammatory disease be appropriate to suspect? Would it contribute to the severity? Aren't there some that are associated with congenital birth defects too (as OP stated below)?

Yes and no!On parsing the thread, it is becoming ckear to think on lines of CVID. But, as OP stated, they gave done other rheuunatological workup.

What about the ones outside of IDs like MEVF, MKD, Still's, etc. Would genetic testing be worth it for OP to ask about ?

I like your thinking. You are covering a huge base. But until and unless we are privvy to all histories, blood work up and labs, we are just conjuncturing possibilities.Regarding genetic test, I do agree that it can be done. The PCP in this case has to make a decision!

I dont know what constitutes a full immune work up. I know his immunology team says he has B cells but they dont do anything. They suspect something similar for his T cells but I was told they cant diagnose him while hes sick. His thyroid panel came back entirely normal. Is there something else I should ask about?

Yeah. I understand that it may be impolite to ask:Could you provide the cytoflowmetry reports of CD 19+/ CD4+/ CD3+/ CD8+ cells?Since he was given ivig, I might not be able to interpret the current immunoglobulin levels (if atleast 3 weeks have not gone by since he was last given IVIg).

No, he doesnt. He started taking IVIG to help combat the CMV infection. Theyre thinking he has an undiagnosed immune disorder due to how severe the CMV infection was. Hes also had vaccines several times but when tested his body acts like its never seen it before.

Ok. This is like common variable immune deficiency. The antibody producing b calls just aren't functioning well. That us why his viral illness knocked him bad.But with regular ivig, every 3 weekly (once he recovers) should help him have a normal-ish life.

This makes sense to me, as the one case I have personally been involved with with a severe CMV viremia was a child with IgA deficiency, CVID, and bronchiectasis. I also sounds like he has had some chronic health issues in the past so it fits that some/all of this is connected. No specific clinical advice from me, but Ill be praying for your boy!

While it wont give answers right now, Im surprised a full genetic work up hasnt been done. They could start with a targeted gene panel for immunodeficiency and or lung problems. In genetics having multiple seemingly unrelated issues is a GREAT reason TO GET testing not a reason to avoid it.I have seen kids recover from ARDS but its long and slow. Getting a second opinion is always your right, but jt doesnt sound like they could move him. Youre doing everything right for him. Im so sorry youre going through this.https://www.reddit.com/r/AskDocs/comments/13g4w5i/6_year_old_dying_from_ards_all_labs_are_negative/jjz5icx?utm_source=share&utm_medium=android_app&utm_name=androidcss&utm_term=1&utm_content=share_buttonThey did the work up

3 years, No diagnosis, Losing hopeSpecs: 23M, 140lb 61, no drinking, no drugs, no previous health conditions Negative Covid tests and vaxxedHey All,Ill try to keep this short, but here is the deal. Since early highschool my energy levels have always been low, my body has generally felt quite sluggish. I always just attributed this to long school hours and work. My dad would joke, its like you got the hangover without the partyAbout 2 years ago I was done with school and really made an attempt to increase my health and energy to actually enjoy my days. For the next year or so I attempted to improve health through a consistent sleep schedule, diet, regular exercise, vitamins/supplements, you name it, I tried it. But after feeling consistently worse I began to seek medical help for:Symptoms:Extreme fatigueOverall joint pain, but focused on my backConstant tired burning muscles (as if I climbed a mountain)Canker sores on soft tissue 1.5in+ in diameterMorning nauseaChillsHard lumps on lymph nodesNo staminaSince July of 2019 I began experiencing episodes consistently every 3 monthsFever 103+Mouth sores 1 in+ and tonsils covered in lesionsBed riddenMuscles burnInability to eat or drink due to mouth and throat lesionsMy docs were highly unhelpful as this was the height of covid and docs were quite busy. For the most part I was passed around with little to no results. I am self employed and this is the only reason I am still able to work, as my last episode had me bed ridden for nearly 5 weeks. I was prescribed Lidocaine, magic mouthwash, acyclovir, VitD3. None of these helpedFast forward to 2 weeks ago, and 6 doctors later, I now have $8,500 worth of blood work done. Everything is normal, except I am anemic and discovered 5 herniated discs in my lumbar and neck. My iron levels are ok, but red blood cell count is low.I have been tested for mono, flu, covid, recurring strep, rheumatoid factor, ana reflex, vitamin levels, thyroid, sleep disorders, allergies, just to name a few. All came back normal.Docs are at a loss and dont know where to go next.I have been turned down by Rheumatology, ENT, Hematology, due to lack of symptoms (more or less I look too healthy to hold a place in the queue). I have been told I have the exact same symptoms by friends and family with diagnoses like RA, Lupus, MS, Gall cancer, gout, lymphoma. But I am getting turned down by specialists so tests are not happening.My daily physical health has slipped to a point of now affecting my mental health. I need answers and cannot continue much longer like this. Nothing I try improves or alleviates any pain. I dont know what to do next.

Ethnicity? Any family members with similar? How long do fevers last for? Is it 3 months like clockwork? What else occurs during these flares, just worsening of oral ulcers? Where exactly in the mouth are these ulcers? Any vomiting or abdominal pain?

White/CaucasianGrandmother: Lupus, Rheumatoid ArthritisGrandfather: Rheumatoid Arthritis, Lupus, GoutAunt: MSUncle: Anemic, celiac, Rheumatoid Arthritis (I have consulted this uncle, he says it is not celiacs)Yes, 3 months like clockwork, no other symptoms I can think of. I have had stomach pains, but I attribute this to my doc prescribing me antibiotics. I cannot eat for the life of me everything burns when it touches the raw nerves on my throat, so the antibiotics on an empty stomach are likely to blame for the upset stomach. No vomiting.The flare ups ulcers are located on the insides of my lips and cheeks, tonsils, back of throat, and tongue. They are according to my dentist "the largest non surgical sores I have ever seen"

Anyone in the family with recurrent fevers, recurrent mouth sores, recurrent tonsillitis or strep throat, underwent tonsillectomy?Any improvement with steroids?Any labwork during an attack? White count, ESR, CRP in particular.Did your rheumatologist comment on the fevers?

Nobody like mine. The grandmother had pretty bad mouth sores apparently, and she said it improved with her Lupus medication.I have not tried steroids, so I cannot speak to that... All of my blood work has been during non-flareup times. And I have not been able to see a Rheumatologist yet.

Periodic fevers can be autoinflammatory or infectious in nature. Stability of symptoms favors autoinflammatory which falls under the domain of rheumatology. I wonder if the referral was for mouth sores only; I would highlight the periodic fevers as the indication for further evaluation. You can suggest the possibility of adult onset periodic fever, aphthous stomatitis, pharyngitis and adenitis (adult onset PFAPA) to your PCP, although other similar conditions must be considered as well. A negative ANA does not rule these conditions out. Your PCP can rediscuss the case with the rheumatology department. I would also suggest requesting an appointment with a rheumatologist at an academic center as they tend to have more exposure to and interest in unusual conditions. I would also ask your PCP if a referral to an infectious disease specialist would be useful.Agree with /u/m3tac0gniti0n regarding steroids. Patients with PFAPA have significant relief with steroids, so assuming infection is felt to be unlikely a course of steroids started with the next flare may be useful for relief and for diagnosis.Best of luck.https://rarediseases.info.nih.gov/diseases/5657/periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis

This was my first thought as well. My daughter had this syndrome when she was in her teens, it seemed to come about during her monthly cycle. It has subsided as she has entered adulthood. The lesions were restricted to her tonsils but with the high fever It mimicked strep and she always tested negative. She's 26 now and hasn't had enough episodes for at least 7 years.

Feels like you nailed it! Well done!

Other than what is listed in my bloodwork, no. Thank you for your input, simply based on the feedback I have received I may ask my PCP for anymore thoughts regarding the possibility of celiac. Thank you for your input!Of course, I hope it might help you find an answer to your problem. Make sure you continue consuming gluten up til the testing is done. Cutting it out of your diet will cause the inflammatory markers to go down and may make it harder to detect.

Just briefly looking over it,Sounds autoimmune.See if a rheumatologist will see you.The labs you provided do not help answer this question.This is also about as far from my specialty as you get, so if other docs offer ideas I would go with thatI'd say the same.Maybe some further autoantibodies tests should be done to rule out Lupus or vasculitides. Other tests that come to mind would be ANCA/Anti-Neutrophil Cytoplasmic Antibody and/or myositis immunoblot; ANA blot (and ENA blot if needed); rheumatic factor.Maybe, but it's a stretch, if it would be possible, I'd swab the sores and ask for some cultures (fungal and bacterial).

Thank you for your input! I have had an ANA Reflex test done. Is this different from what you describe above? They have suggested swabbing the sores, but ENT turned me down at the time, now I am supposedly waiting for my next flare up and they would swab it then.... we'll see.

Indeed, that's the right ANA test.Sorry about the ENT. If you have any labs that you could get these done, I'd suggest going in by yourself. Depending on your country, it might not cost much.Before swabbing, don't eat/drink anything, so it's best to get these tests before brushing your teeth, in the morning.

Anti CCP Antibodies. And would recommend having the bloods done during the flare up with inflammation markers like ESR/CRP. Definitely sounds Autoimmune in nature.

Yeah, during a flare up is the best choice. I saw that they already had CRP done and it was normal

PBC DiagnosisI'm male, 30 years old, 5'11, 190 pounds. I have Hashimoto's disease and collagen vascular disease. I take 75mcg Synthroid and 400mg hydroxychloroquine per day. A couple years ago I tested positive for antimitochondrial antibodies at 1:80 titer. My liver enzymes have been normal. My total cholesterol is in range but my bad cholesterol is slightly high.My rheumatologist told me that the antibodies are usually seen in primary billiary cholangitis, but that they can be present in rheumatological diseases as well. My diagnosis of collagen vascular disease is a vague label as my only symptoms are low white count and low platelets, declining for a decade. Cancer was ruled out and they tried hydroxychloroquine, thinking it was autoimmune as I already had Hashimoto's disease. My blood counts have been higher since I've been taking hydroxychloroquine.I get my liver enzymes checked twice per year. Should I push for any other tests so that if I have PBC, it can be caught early? My rheumatologist said he wouldn't do a biopsy or ultrasound as my liver enzymes are normal. Is there anything else that can be done?

You dont treat normal liver enzymes even if you had PBC. But you don't have pbc because your liver enzymes are normal

I've read that the antimitochondrial antibodies can show up years before the disease progresses. Is that true? Should I just continue to have my liver enzymes monitored each year?

It can but there's nothing to treat

Thanks for the responses. I just want to make sure if I develop the disease it can be caught early. I watched my grandfather die of cirrhosis (not autoimmune) and it is scary, especially as doctors tell me antimitochondrial antibodies are associated with the disease and studies I've read say that most people with the antibodies get the disease.

People don't check for antimitochondrial antibody in the absence of abnormal liver tests so this is not true at all

The studies aren't true? Or my testing positive for the antibodies isn't true? My rheumatologist did a bunch of autoimmune bloodwork due to my low platelets and white blood cell counts. He said he tested for it as it can be positive in diseases like lupus.

So it was for lupus. It's irrelevant to pbc because there was no indication to test it

They did a wide array of tests because of my white blood cell and platelet counts as they could not figure out why they were decreasing from year to year and all tests for cancer done by an oncologist were negative. The counts were getting dangerously low. The antimitochondrial antibodies came back positive along with antinuclear antibodies. Then they said I do not have lupus or any identifiable autoimmune disease, but only a vague collection of symptoms. They put me on hydroxychloroquine in hopes it would raise my blood counts as they could not figure out the cause and I already had one autoimmune disease. The rheumatologist said I do not have lupus and that he doesn't know what caused the positive antimitochondrial antibody test. He said it's possible it's a due to a rheumatic disease or that it just happened to turn up positive in the bloodwork.

Right. But you don't order AMA for pbc unless your liver tests are abnormal. So this is generally worthless. What exactly are you trying to convince me of.If it turns out you have pbc down the line, then you may get treatment if your liver tests are very abnormal

Elevated esr and crp with sudden symptoms (started 2 weeks ago)Hi doctors!27 year old female 6 months postpartum, weaning of breastfeeding currently. (If relevant)A few weeks ago I got a bug (negative for covid) towards the end I started having hand cramps, foot cramps, muscle pain in my legs and arms and joints, tiny spasms all over including my face and then followed by pins and needles all over and sometimes a burning feeling in skin. I will state, I have had this type of thing happen before a couple years back. I also have severe health anxiety and have been under immense stress.I went to the dr. And he did blood work. Cbc, comprehensive panel, vit d, magnesium, b12, esr, and crp. Everything was normal except for the esr and crp. Esr was 40 and I cant remember the crp level, but it was mildly elevated. Fast forward to this week, I went to the er for related symptoms (they have improved some) dr re checked blood work. Esr went up to 55 so obviously I have some inflammation somewhere. They said it wouldnt be from being sick, not caused by being obese, or stressed or anxious. They kind of hinted at MS and let me tell you that sent me into a real panic. Dr suggested my pcp order a mri of spine and brain. My pcp did so and also sent an urgent referral to rheumatology. Urgent as in November 30th being the soonest appt.I looked at my labs from a few years back and had the same elevated markers that went back down. I also had a rheumatology panel done then and everything was normal. Ana negative.My symptoms seem to be improving but Im still not feeling 100%. I have been a ball of anxious nerves since this has started so its hard to tell the difference. Now Im convinced I have ms or some debilitating disease.

ESR elevation is extremely nonspecific. Any inflammatory condition can raise it. Any sickness can get you to the 40-50s. It's up, but not particularly high.I think your doctor is probably managing things well from what you've described.

My symptoms sound serious to me, but the doctor said otherwise. Am I crazy?21M. Been experiencing this for 4 months and its gradually getting worse. Ive been suffering from headaches and chronic arthritic type pain in my shoulders. My neck is stiff and is tight when I turn it from side to side. The centre of my neck is strained, im in a lot of pain and its stopping me from doing my job and uni work. Sometimes its dull and sometimes its really bad when it flares up, but its always there.They said they dont think its anything serious i.e. muscle tension, but theyll do my bloods anyway to check for inflammation. Im just concerned that nothing will show up if they do my bloods when the pain is dull and ill go back to being in pain all the time and I dont want to seem like im crazy going back to see them. If its something serious will it always show up as inflamed? Thanks

I assume theyre trying to rule out anything rheumatological, which would indeed result in raised inflammatory markers if you have symptoms.

Thank you. If it doesnt show up, surely I cant be suffering chronically from all this for 4 months for it to just be muscle tension. Doesnt make sense.

Very much could be to be honest.

I just went ahead and edited. ALT, AST. Plus a couple others. Whats odd to me - a person that isnt close to a dr; her WBC seems to remain decent. And regardless if its infection or virus I would expect an increase.CLL was brought up bc of the higher absolute lympho count and the moderated smudge cell. The ER doc wrote it on discharge to pcp.

I'm a ED physician, and this...sounds unusual. In CLL, the white count should be significantly elevated which in this case, it is not. Furthermore, the presence of smudge cells is not necessarily indicative of CLL. I be surprised if this was CLL. This is likely some sort of viral infection if I had to guess.

Odd skin reaction to my hands and feet occurring 3 times recently with no changes in lifestyleAge - 26Sex - MaleHeight - 6'Weight - 185Race - CaucasianDuration of complaint + Location - Longest was the first time, on both hands lasting around 3-4 weeks before fully healing The second time on the feet was only 2-3 days The most recent time, today, again on both hands only not as severe as the first time. I have pics only of today's episode but I took a few sets over some hours to see the changes.Any existing relevant medical issues - NoneCurrent medications - NoneInclude a photo if relevanthttps://imgur.com/gallery/rrcI6jTEdit: just added some description of each e6Hey everyone, hopefully someone might know what's going on. So these pictures are 3 hours apart from the initial reaction I felt. This is now the third time something like this happened but each time has been different. They feel like an annoying chemical itch/burn and come out of nowhere.The first time about 2 months ago my wife and I had gone to the neighborhood pool. Maybe 3-4 minutes getting into the pool and my hands started burning so I pulled them out and they looked like what happen today but a good bit worse. It took about a month to completely heal. I hadn't done anything about it because I assumed it was some reaction to a pool cleaner or something. That day also was fairly busy and there wasn't anyone else showing the same thing. Also it was strange because I had completely submerged as soon as i got in and I didn't have them show up anywhere else. On top of that they looked raisin shriveled for like 2 hours after only 5-10 in the water.The second time is strange too because it looked the same but happened on my feet and it went from 0 - foot arching pain from the burning. I literally walked in the bathroom and I pulled one boot off and I thought I had ants biting me or something. I took off my sock and the same red blotchy chemically burn look and feel all over my foot. I showered right away they felt better and in 2days they went from fairly tender to no issue.Today is the most recent occurrence happening while I was sitting with a patient in the back of the ambulance. I was typing my report and they started burning again from nothing to pretty sensitive really quick. The pictures I posted are about 3 hours apart from each other if that might help anything at all. But even though it's on my hands like the first time, the severity was not nearly as bad as the first time and looks much better after a few hours than that did for a week or two.

This is not a typical palmoplantar rash. I would be concerned that this dermal inflammatory reaction patter could be caused by a rheumatologic condition or similar. I suggest you seek dermatologic care. A skin biopsy and laboratory evaluation seems appropriate.

Sudden loss of mobility - PCP refuses referral/treatmentHello, I'm a 32(F) in the USA. African-American, 5'2" and 144lbs. On Jan 3, 2022, I woke up around 2am with a terrible migraine. I had light sensitivity, confusion and extreme pressure behind right eye. Took excedrin but was unable to sleep due to pain. I was finally able to sleep about 45mins later as meds kicked in. Woke up the next day with a regular headache and soreness in right eye. On Jan. 5th, I suddenly became dizziness at work. The room began to rock and tilt causing loss of balance. My right ear felt clogged and I had pain in jaw joint on the right side. I was taken to ER and evaluated for heart attack, stroke etc. All tests came back normal. I remained in the hospital due to continued dizziness/imbalance but all tests including MRI of head and neck were clear. Was given motion sickness meds but it didn't help. While in hospital, I started having pain in my right hip joint. The joint also pops/clicks with movement. I've experienced the popping/clicking since I was 14 years old (18 years and counting) but this is the first time there has been pain. The pain has spread across my lower back. The pain started as a stabbing, pinching pain and is now an achy and the best way I can describe it is bone deep.I also have weakness in my right leg and intermittent numbness. Two weeks ago, I began to experience multiple episodes of urinary and fecal incontinence. The hip and back pain has gotten worse and the dizziness is the same as when it started. Almost all blood test and urine test have come back normal except for my vitamin d levels. My vitamin d value is 10ng/ml and I was prescribed over the counter vitamin d3 pills (1000unit)An MRI of my lumber spine was done (full report is linked). My PCP said it looked fine but didnt explain anything further. On the MRI it mentions the following:DISCS: L4-5 and L5-S1 disc desiccation and mild to moderate L5-S1 disc space narrowing.BONES: Slight chronic marrow signal changes. Body heights are generally maintained throughout.L3-L4: Slight posterior element degenerative change. Spinal canal and neural foramina are patent.L4-L5: Mild right eccentric disc bulge is slightly improved. Annular fissure. Slight posterior element degenerative changes. Spinal canal and neural foramina are essentially patent.L5-S1: Mild right eccentric disc bulge. Mild posterior element degenerative change. Spinal canal is patent. Slight predominantly bright neural foraminal encroachment.EXISTING MEDICAL ISSUESexercise induced asthma (I take Albuterol as needed)arnold chiari malformationthalassemia traitintermittent fatigueI've also had reoccurring migraines since I was 15 years old along with random, unexplained swelling of my hands and feet. Most recent flare up was unexplained very visible swelling of my left leg in July 2021. (Went to ER and tested negative for clots and gout)I suffer from random bouts of stomach inflammation that has been misdiagnosed as gallbladder disease (gall bladder was removed when I was 16) and has now been attributed to GERD. ( I take omeprazole for stomach and I have a history of stomach ulcers). Most recent flare was October 2021I've also had debilitating back pain since I was 15 years old and have completed physical therapy, acupuncture, multiple courses of steroid injections in my spine and at least 3 courses of prednisone. Pain has been caused by unexplained muscle spasms and bulging discs. I have these flare up at least twice a year.I sometimes have rashes that appear on my back and arms that are often misdiagnosed as ringworm (photos included). Fungal test always comes back negative. So far, the rashes have been diagnosed as eczema and rosacea. Flare ups occur approx once a year for the past 15 years. Rashes sometimes itch but its very mild. Most recent flare up occurred in November 2021.CURRENT SITUATION I requested a referral to be seen in rheumatology and at the spine clinic. PCP did blood test for rheumatoid arthritis plus urine test which came back normal and has refused my rheumatology referral request. PCP also will not refer to spine clinic and has instead enrolled me in a group physical therapy workshop.Dizziness has not changed in 2 months, pain is getting worse, muscle weakness is getting worse but I haven't been prescribed anything. I've been told to use ice and heat and to stretch.LIFESTYLE PRIOR TO CONDITION Before this began, I was very active. I practiced yoga once a week and took dance lessons twice a week. I'm also an avid hiker. I did not fall, over stretched or injure myself in any way prior to these issues. Due to the random flare ups of swollen legs and fingers, I also meal prep and am conscience of what I eat so I believe my diet is pretty good. I've always been an athletic. I played basketball, ran track and played tennis from first grade through high school. In college, I swam and took dance classes most semesters.I'm not used to being in this much pain and not being unable to move for this long. I feel like my PCP doesn't care. I don't know what's happening to my body and because my blood work looks normal, I'm being ignored. Please help! I just want my life back.

This is a rather complex history so I think it's difficult to give you any proper in-depth input. My main concern here is why you are being managed for this neurological condition by your PCP. Have you seen a neurologist for this? The reason I ask is that you're having multiple neurological symptoms with this sudden bout of headache and unilateral weakness and numbness that you have described. And MRI might be sufficient but a proper and thorough neurological exam is also needed. Unfortunately our current healthcare system does not allow for an in-depth neurological exam even in the neurologists office but at least it's worth a try.Agreed completely. Depending on the specifics of your history and exam, a total spine MRI, maybe slightly different types (sequences) of brain MRI, EMG, full neuropathy and rheumatologic panels may be warranted, as well as imaging of your hip.I will say, for what it's worth, that the fact that the numbness is intermittent is encouraging, and nothing on this lumbar MR report is dangerous or significantly abnormal (though it certainly could account for your back pain). Weakness in a single limb is typically a concerning thing to hear, however issues with the hip joint like you seem to be describing can cause weakness in the muscles surrounding the hip.

Thank you. I'm glad the MR report looks good. My doctor didn't talk to me about it so I've been very confused/concerned. She hasn't done a neuropathy panel or ordered any hip imaging. As for rheumatology panels, I had a serum rheumatoid factor test, a cyclic citrullinated peptide test, a uric acid test and a ESR. I was told that they all came back normal which is why she won't refer me to rheumatology. I will push for hip imaging because that's where most of my pain is. Thanks for the suggestion

The other workup may or may not be necessary but yes, a simple hip XR makes sense based on your symptoms. I had a patient not so long ago who had gotten multiple extremely extensive neurological workups for left leg weakness, including chasing things that ended up being asymptomatic incidental findings. She presented to us for hip pain soon after, and it became very obvious (supported by an X ray confirming our suspicions) that the weakness was entirely due to arthritis. You never know.

I only saw the neurologist while in admitted in the hospital. The visit lasted about 15 minutes. He did brief an assessment, told me that my x-rays and mri looked fine and that was pretty much it. I've asked my PCP for a referral to neurology as well but she keeps saying that since nothing has shown up in any blood work or x-rays, she can't do it. I asked her if it's possible to have a neurological or auto immune disorder that doesn't show up on x-rays and tests but I haven't gotten an answer.

I am not sure which country you're in but for us here in the US healthcare system when you are in the health insurance system you get health insurance quality care. I often advise my patients to seek out a private neurologist for a deeper exam and insight into what's going on. A neurologist couldn't even examine the right hand in 15 minutes much less do a full head to toe Neuro exam. I encourage you to Google a full neurological exam on YouTube and see what it takes and how extensive it is. When the insurance company will only reimburse you per visit and you have 500k in student loans and malpractice insurance and each patient is a potential lawsuit you tend to do something cursory, order a test and if the test is negative you're protected. I know this isn't fair to patients but it's the agreement we have reached as a society in managing healthcare so I'm trying to arm you with the knowledge to get the right care.

Thank you for this. Yes I'm in the US and I have insurance through Kaiser Permanente because my employer has a contract with them. I've had horrible experiences with this hospital and thanks to your response, I now understand why. My next step is going to be working with a private provider. I'm definitely stressed about this because I know the cost will be high but I need to know what's happening to me.

I haven't heard the best things about Kaiser I must say. I worked there myself before and I wouldn't want to be a sick patient there.

Bad Burn on Hand is Getting Worse Over Time Despite Being on Antibiotics.[34] [F]Pictures - https://imgur.com/a/D5iF0BI34F,5'10.5,13 Stone,Caucasian,1Bad Burn + 1 Lesser,Possible Neurological Issue or Rheumatological Issue (MS/Epilepsy or Fibromyalgia are possibilities being discussed 7 years in)Meds -Lyrica 75mg 2x p/d + 25mg at night.Solpadol - 3 x p/d, 1-2 tablets ( 30mg/500mg ) per taking.Xanax - 0.25-0.5mg when neededAugmentin - I don't have any left to know the dose but it was for Tooth Abscess that was bad and landed me in ERAmoxicillin 500mg one, three times a day.Flagyl 400mg one, three p/dSolpadine 7/500mg for times of lesser pain. Not taken regularly.Aceclofenac (Vitafen)100mg. One p/dDrink once maybe every two-three months.Smoke heavily, daily.Location: IrelandHi all!I burned my ring finger, and, to a lesser degree, my pinky, on a metal pot about two weeks ago.I had a tooth abscess at the time and aprox 5 days went to Caredoc (Irish out of hours Doctor that isn't Hospital) where i was given Amoxicillin.I didn't get the Burn checked out because at the time it was just red and sore like a usual Burn.Next day tooth was worse so I went to A&E where I was given Augmentin as apparently Amoxicillin + the strength was never going to clear up that type of infection.So, for the last 1.5 (ish) weeks I have been on a variety of antibiotics.However, my hand has been getting worse every day.Today, I woke up and my entire hand is swollen and sore.This hadn't been an issue until today.Yesterday was the first time I noticed some swelling but it was only on Ring Finger and pinky.The other cuts on my hand also were filled with pus though they had no reason to be and, weren't before the weekend.I had the Amoxicillin left over so started taking that again.

Occasionally burns can cause dep tissue infections. Returning to a doctor seems wise

Thank you for the reply.I definitely will be returning, i just was looking for some insight moreso, not medical advice as i dont have any experience with this type of burn.I can't get an appointment for two weeks. That seems like quite a long time to me but I'm not a doctor.

If it gets much worse, seek emergency care.

Also, do you have any idea what level burn this is? I'm having a hard time figuring it out.

It seems like a full thickness burn.

Clots, cysts, and no diagnosis +7m on ...27yo female, 84kg 5ft9, presents w/ multiple clots in stomach - splenic vein thrombosis, mesenteric vein thrombosis, portal vein thrombosis, for main concern - in addition to other clots present in stomach (8 total). Cysts in spleen and liver, constant upper right flank pain w/ sickness and diarrhea and stomach distension. Right shoulder/neck pain. Constant tonsillitis issue, constant fatigue periods followed by unable to sleep for extended periods of time too.Docs determined clots as idiopathic, now on enoxaparin injections 150ml and codeine for pain management. Been under investigation since Dec-21, w/ no ACTUAL diagnosis. Clots were not caused by a trauma.Had CT, MRI, colonoscopy/endoscopy. No IBS. Cirrhosis. No gallstones or issues with gallbladder. Seen a haematologist full thrombosis panel completed: all genetic, autoimmune, deficiencies, all negative in tests. Jak2/PNH/anticardiolipin/beta2 glycoprotein all negative. Thought hyatid disease for the clots given in spleen/liver, however, negative. Under gastroenterology, rheumatology issues ruled out.Abnormal perfusion areas in liver, calcified splenic cysts appear to be long standing but benign in recent MRI. Fatty deposits for 'cysts' in liver, but appear benign again.Recommended weight loss to aid with symptoms and also reduced fats in diet considerably (got an air fryer), lost 10kg since but upper right quadrant pain seems to be getting worse again and sickness/diarrhea.Getting frustrated with lack of diagnosis as to why clots formed, cysts formed, and what's actually happening to me.No previous medical/family history of clots or cysts. Mom has had 3 miscarriages, Dad has cardiovascular issues. Both grandmother's had cancer - bowel and throat.Awaiting elastography of liver to measure scarring so far.Anything else I should be requesting to aid in a diagnosis? Any thoughts on a diagnosis?

Sorry to hear about your troubles. My first thought was a missed covid infection. You may have had it without any particular symptoms, but it can still (rarely) lead to systemic thrombosis in otherwise healthy people. If this ends up being the case, the good news is that it will likely get better. Heres an example case report: https://casereports.bmj.com/content/14/1/e241027

I'm vaccinated, had 3 injections.

Good for you! This makes it less likely, though still possible.

Confused from Rheumatology appointment. Doc seemed concerned but also not?25M, 6'4, 195lbs.Been dealing with some health issues that have been affecting me pretty heavily and it was suggested I see a rheumatologist just to be safe.He ran some panels where there seemed to be some out of range factors that he wasn't concerned about. The three he did bring up, though, was aANA Screen IFA - Positive | Pattern was Nuclear, Speckled.ANA Titer - 1:40WBC - 2.4 x10(3)/mcLHe wasn't worried about these results, either. My WBC is usually right below reference range, but not typically this low. He did say that that WBC count should have an eye kept on it.. but not to worry about a positive ANA screen or a titer of 1:40.Is this anything I should check up on? The bouts of what I deal with are really messing with daily life and aside from an endoscopy (which I struggle to believe would be causing any of my issues) that showed gastritis and duodenitis, as well as some labs that came back "out of range" here and there.. these results seem to atleast possibly point towards something?Any feedback is appreciated, thank you.If any other labs are needed, please let me know. I can pull them from online.

Low WBC and positive ANA are two criteria for lupus. You did not specify what your health issues were though.The presence of a nuclear speckled pattern is often indicative of an autoimmune disorder, as it suggests the presence of antinuclear antibodies.

27F immunocompromised and sick for two weeks. Getting worse. Rheumatologist is out of town and ER doctor sent me home pending blood test results that are still processing. Insight?Demographics: 27 female. Height 5ft 6in, weight 190lbs. Married.Conditions: rheumatoid arthritis and lupus; SVT.Meds: 2000mg sulfasalazine, 400mg plaquenil, 200mg Cimzia injection every two weeks.Non-smoker, no alcohol, no caffeine.Duration of complaint: 2weeksI have four doses of pfizer covid vaccine.Currently negative for covid.Two weeks ago before my scheduled Cimzia injection I spiked a low-grade fever. It was about 37.8c. Since then, my temperatures have been 37.5c to 38.5c. Acetaminophen will not bring my temperature down. It initially started with fatigue and headache and fever.Last week I began to get a sore throat, sweating, clamminess, chills, mild sinus pressure, confusion, shortness of breath, and a slight cough.I went in for monthly rheumatology bloodwork on 7/28. Ill attach the results. Mildly decreased WBC and Neutrophils.On 7/29 I went to the emergency room as my primary doctor instructed me to because I was not improving. Many cultures were taken. WBC further decreased and neutrophils were more than half of the previous day. There is a WBC Morphology pending pathologist review.Sepsis cultures have not shown any growth over the day.X-ray of chest showed no abnormality.Im confused as to what could be causing this. The ER doctor also said he was confused and it could be a medication or a nasty virus (was not tested for these) and that I have neutropenia and I am quite immune compromised but left it at that.Today, 7/30, I have had more difficulty breathing, particularly with movement or talking. Im coughing green/yellow thick mucus. More fatigue. My lungs feel heavy.Im thinking of heading back to the ER tomorrow if symptoms get worse, but Im not sure it will do any good for me or provide me with more.Is there any insights?Ive reached out to my rheumatologists receptionist as well as my primary doctor. However, Monday here is a holiday so the offices are closed. The earliest I could see my primary is on Tuesday, and Im not sure how much further it will progress by then.here is the link to my imgur albumI understand that some of the blood work with the hematology panel is still pending.Also, what does it mean with the WBC morphology Reviewed by technologist Sent to Pathologist for review?Thank you in advanced

I wouldn't wait a day more. Go to the ER. In my opinion you should be started on broad spectrum antibiotics asap, while waiting for results.

How do you feel about patients bringing their own files?How do you feel about patients who bring their own files?Im a 28F and was recently diagnosed with a chronic illness and have at least one more serious medical issue suspected. Im asking for advice navigating the diagnostic and treatment process for multiple complex medical issues.Is there anything a CI patient like me can do to make diagnosing and treating easier? Ive heard other chronically ill patients advise to bring a folder full of all medications, symptoms and symptom changes, lab results, etc. to hand to the doctor each visit. Is that something helpful or would you just think they were extra/a hypochondriac?Are there any other things ci patients can do/not do to help? Pet peeves? Im having to go to my pcp or a specialist ALL the time recently and want to make the process as smooth as possible.(For the auto mod: 28F, 5 ft. 10 in., 140 lbs approx., white, dealing with autonomic dysfunction and suspected autoimmune issues as diagnosed by my pcp, neurology, cardiology, and rheumatology teams, have had symptoms for 10 years, medical history previously listed, not taking any relevant medications, no drinking, smoking, or recreational drugs)

You can bring it but I'd prefer it being sent over before our visit OR letting us review it after the visit. A summary is preferable unless it's truly relevant to what I'm seeing you for. There's just not enough time in a clinic visit to go through a huge stack of medical records

So giving you a copy you could keep would be helpful? Ill keep that in mind!

Only if it's relevant

Unexplained Wounds need help to find answersMy husband served over in Iraq in 2011 and came home due to a machine gun falling on his groin and he had to have nerve blocks. 4 years later he started developing these ulcers that in a matter of hours would turn necrotic. When he was over in Irag he was stationed near burn pits. We've been to countless specialists such as dermatology, infectious disease, rheumatology, wound care. We've been to 10 different hospitals and not one doctor can find the cause of this. For about 2 years we thought it was Pyroderma Gangernosum, but with PG if you cut into it, it will make it worse. With my husband it helps. We have become so hopeless and this is so debilitating. Hes lost countless jobs we are praying to find answers and find someone who has this awful disease that may know what it is. My Husband is 27 years of age 5 ft 5 he weighs 200lbs doesnt smoke or drink. unexplained Wounds

Buruli UlcersBrucelosisI only suggest those two as Ive had a patient with the first one who served in the Middle East, and initially a differential was the second. We also get the Buruli ulcers here, but we call them Bairnsdale ulcersId suggest an infectious diseases specialist.What is a burn pit?Oddly enough I couldnt link the WHO page for the first one.

Please do this! I have met someone who has had similar complaints and they were not able to get a definitive diagnosis.Also, Schnooks, are you a physician in Australia? I understand Buruli ulcers had some what became an issue in 2018 there. While it isn't an issue here in the States, I wonder if this contributes to misdiagnosis? Thanks for your input!

I am, anaesthetic registrar.Its not my area, but I think theyre still a problem and actually getting worse (spreading, increasing frequency). They certainly make the news more frequently. Despite the fact theres a syndrome Bairnsdale ulcer down here, apparently theyre a frequently forgotten diagnosis. So it wouldnt surprise me if the same illness would be far from front of mind elsewhere in the world.

Buruli (mycobacterium ulcerans) is typically gotten in tropical areas by exposure to contaminated water or bites from infected aquatic type insects iirc. As nasty as these burn pits seem if it were buruli the pits aren't likely the culprit. Burning introduces things into our lungs, which is awful but would not give him this type of infection. If he were stacking the animals etc onto the pit or otherwise handling similar items, well then... bingo.

Middle East isnt tropical (right?), neither is Bairnsdale (Victoria, Australia), both of these places have Buruli ulcers...I have no idea what is going on in OP, but I know neither of my suggestions are commonly thought of in initial work up stages and Ive seen similar presentations here in Oz. And the historical regions of prevalence of a lot of things is changing.QquestionI said typically, which is accurate. I'm certainly familiar with the Australian outbreak. I recall saying bingo, which feels like agreeing to me, and I do agree. It's a definite possibility the specialists they saw didn't consider it. I suppose I muddied the water for no particularly good reason... That's fair.Can also be contracted by unpasteurized dairyIs there a special test for this?Not really, but Id imagine the requesting physician should mention it in their diagnosis list. (It makes the microbiologists go ah, well look for that by setting up these tests)Basically swabs then culture (mycobacterium grow bloody slowly, so it is an extended culture) and PCR (looks for DNA from the bacteria, quicker, but not always as useful).Thanks for the info re burns pits. I would definitely recommend infectious disease specialist/s, being in close contact with burning, dead, decaying animals human waste is a recipe for really weird parasites/bacteria.

Did they inform him of the Burn Pit Registry through the VA?

These look like theyre due to an exotic infectious agent. He needs biopsies, cultures, and I would think about trying doxycycline for like 6 weeks. Ask your ID doctor about empiric antibiotic treatment and see what they think.

We have done all that and he has bottles and bottles of that medicine but there is never an infection WBC is always normal everything is normal. He does have a vitamin c deficiency

WBC doesnt really mean much. It can be helpful but it doesnt mean this isnt infectious. Has he ever done antimycobacterial therapy? Rifampin, isoniazid, etc?

No but we will look into that with his dr

Would you mind updating us if this gets diagnosed or if a future treatment works well? I gave you my best impression but this is not like anything Ive ever seen outside of textbooks, and I want to learn from this in case I ever have the chance to help a patient like your husband.QOut of curiosity, I am NAD, but could this be caused from an insect or spider? The reason I ask is I have friend who was bit by a spider while in Afghanistan and he still suffers complications from the wound site. While not near as extreme as what OPs husband is going through, but is it possible that OP is suffering from some sort of parasite or long term degeneration from venom? Would that turn up on any clinical tests? And do you think it would be prudent for OP to contact medical professionals in the country where OP was originally exposed?Has he had biposies of the lesions?QYes he has had biopsies several in fact alot of them come back as a burn but that's not the proble. This is not a burn.The fact that biopsy reports give the wrong answer and he's seen multiple specialists possibly suggests that you're dealing with a new, hitherto undocumented entity. What treatments has he had for this if any? Response to certain drugs could tell us what sort of disease process this is.

My husband is fighting for his disability because this is so debilitating he cant work. But without a diagnosis the disability people keep denying himHire a VA disability appeals attorney. It cost me 2 grand twice, the first time got me from 30% to 90% and the second time got me from 90% to 100% total and permanent. I personally have far less severe injuries than what your husband has and was suffering the same issue.There are also attorneys for SSI/SSDI benefits, though I havent personally used them as applying for SSDI as a 51 year old is relatively easy. As a 27 year old though it is damn hard and you likely will need a lawyer or a few years of trying, and a lawyer works out cheaper in the long term.

Need more history, things like past medical problems, medications, drug use, etc. Differential as I see it includes infectious, autoimmune, vasculitis, drug use, medication, environmental (especially considering the burn pit). It's very odd that it would take years after that exposure that these ulcers would start, but not impossible. Why has he lost countless jobs? What did previous skin biopsies show? What have his labs shown?

He has no other medical problems, he isnt one any medications, no drug use in fact he quit smoking 5 months ago. He started having small ulcers as soon as he came home but now they are way worse. Hes lost jobs because he has to be off so long and they let him go

And the skin biopsies? And the labs?Qsome have came back as a burn which they are not and others show nothingAnsNeed the actual reports, which are always available through either a patient portal website or though a medical records department. Also need the lab reports.

Does This Really Sound Like Dermatomyositis?BackgroundAge, sex: 31Mheight: 5 11race: whiteprimary complaint: purplish skin along with tachycardia and extreme fatigue/tirednessduration: I have experienced skin discoloration since I was a kid, but this progressively got worse once I was an adult. The tachycardia started when I was about 24 and has progressively gotten worse.Medications: My rheumatologist has me on hydroxychloroquine (200 mg), prednisone (started at 50 mg, but now taking only 5 mg), and pantoprozole (40 mg). An ER doctor started me on meclizine (25 mg) as needed for dizziness that started about a month ago. I have also been on Adderall XR since 2019. I currently take 25 mg, up to two in the morning. I do not drink, smoke, or use any recreational drugs.Other medical conditions: ADHD. Morphea (I developed this when I was 8, and it has never gotten any bigger). Splenomegaly. In July 2021, I had encephalitis due to reactivation of varicella-zoster virus.I apologize in advance for the length of this post. I just want to be sure I include anything that might be relevant.Starting in 2014, my heart rate would randomly jump up to 120-140 bpm, and I would experience tingling in my extremities. The purplish skin started when I was a child, but it has gotten worse over the last few years. Between 2014 and 2021, I had multiple echocardiograms done to check for any abnormalities of the heart, but doctors never found any. I also wore a holster for a month, and that came back mostly normal.A couple of months after I had encephalitis, a rheumatologist diagnosed me with dermatomyositis based on the redness and scaliness on my knuckles and redness around my fingernails. Lab tests showed that my muscle enzymes (CK, aldolase), liver enzymes, and IgM all were elevated, but additional diagnostic testing has not shown anything to confirm dermatomyositis. Ive had an MRI of my legs, hands, abdomen, lungs, and heart. The abdominal ultrasound showed that I have a slightly enlarged spleen. Everything else looked normal. I have never experienced muscle weakness or the characteristic rash that DM patients usually have. I did see a dermatologist after I started treatment. She said it looked like it could be DM, but there wasnt anything on my skin for her to biopsy.Since my rheumatologist started treating me for DM, my heart rate tends to stay around 80-90 bpm, and the palpitations are much less severe when I do experience them. My most recent blood tests came back normal except for my IgM. However, my skin still turns purplish, and it sometimes feels like there is a rubber band around my arms.I dont know if there is any connection between the encephalitis, tachycardia, and DM, but it makes me wonder if there is something more serious than DM going on. My doctor does not think its necessary to explore other possible causes. She says that the treatment she has me on will treat any rheumatological disease. I really like and respect her. Shes the first one Ive seen who acts like she cares about my health. I just want some kind of confirmation that shes right.I appreciate any feedback, insight, suggestions, etc. Also, I can submit my full CBC report if that would help at all.

Please include one of preferably more of the pictures in your post as an imgur.com link. It makes it easier to help with something when it can be examined visually. Additionally, share the values of your ANA, ENA, CK, aldolase

Thank you for your response. My apologies for not getting back to you sooner.I am not sure about the ENA. I did a Google search and think I found what test results to include. Let me know if these results are not what you need.Below are the results of lab tests from September 22. These tests were done before I started treatment for DM.CK - 1,063 units/literAldolase - 26.3 units/literANA - Negative (<1:80)RNP/Sm - < 12 unit(s)Anti-Smith - < 12 unit(s)C3c - 107.0 mg/dLC4c - 20.0 mg/dLKappa FLC - 12.7 mg/LLambda FLC - 17.5 mg/LFLC - 0.73 ratioIgG Card - < 9 GPL-Units/mLIgM Card - 16 MPL-units/millileterI'm not sure if ALT and AST help with diagnosing DM, but they came back abnormal. This isn't unusual for me (they've been as high as 240 on tests I've had done over the last 10 years), but I thought I'd include them, just in case:ALT - 56 units/literAST - 44 units/literBelow are the changes in some of these values when I had the lab tests performed again on November 4. These tests were done after I had already started prednisone and hydroxychloroquine.CK - 83 units/literAldolase - 9.2 units/literIgM Card - 23 MPL-units/millileterALT - 15 units/literAST - 14 units/literHere are the best images I have of the skin discoloration. Because the discoloration on my knees is usually worse while I'm in the shower and right after I get out, I took the photos and video of my knees in the shower. There is nothing graphic in these images, but I wanted to explain why I took them in the shower.Right hand - https://imgur.com/icyYOPQKnuckle, right hand - https://imgur.com/fD48uK0Left arm - https://imgur.com/JVPth2XBoth knees - https://imgur.com/bszpHWgRight knee - https://imgur.com/cjdn4zVBlanching (Video) - https://imgur.com/3KszJT7

No mention of the most important test - skin biopsy results. Everything you present is less important.

She said that there was nothing for her to biopsy. This is the note that she included in her report:Physical exam: dilated nailfold capillary loops of fingernails, L>R. Mild erythema of proximal nail folds of fingernails. Ragged cuticles. No evident Gottron's papules, heliotrope sign, shawl sign, holster sign, or other stigmata of DM. Scalp clear with no erythema or scale-prior labs including myositis panel, CK (elevated), and aldolase (elevated) reviewed. Negative myositis panel noted.-findings on exam today support prior diagnosis of DM (esp in context of markedly elevated CPK and aldolase), although unfortunately there is not a high-yield spot to biopsy to provide additional support of this diagnosis. Suspect that pt's cutaneous findings have improved with plaquenil + prednisone therapy

Spots change over time. Right hand knuckle that you show could be a Gottron's papule. Lupus can look like this as well, as can many other conditions.

3.5f with mystery illness 4 childrens hospitals and 14 specialists cant diagnoseThis is going to be so, so, so long and Im so sorry. But we dont know what else to do. Ive tried to compress it the best I could. 3f with medical mystery.First year of life: -couldnt latch until 2 months old -refused all food, in all forms. -up every 20 minutes every single night, wouldnt nap longer than 30. -had newborn shakes that stuck around a year old. -consistently has BM 60-70% mucus, and majority of time was green.February 2017(1 year old): -staring spells began -CT at hospital was clean, sent us to neuro. -EEG performed, no episodes happened, clean. -lost all of the words she had and remained non verbal, despite starting speech therapy at 18 months, until over 2.Eventually they went away after a few months. Doc said absence seizures are harmless and not to be concerned. Released us from his care.June 2017: 16 months old. -woke up and couldnt walk. Screamed when weight put on leg. Took to urgent care. Urgent care ran labs and found a sed rate of 44. Referred us to an orthopedic surgeon. Orthopedic surgeon did treatment for transient synovitis. When it became clear that wasnt the cause, sent us to rheumatology.August 2017: -diagnosed with Oligoarticular JIA (right knee only at this point). -started on naproxen.November 2017: -first steroid injection. Kenalog into right knee. -two days later, woke up screaming and manically itching legs. Hives sprouted. Face swelled, eyes became black, hives all over neck and face. Started wheezing and gagging, rushed her to the ER. ER said it was an anxiety attack from the itching, not anaphylaxis. -steroid injection worked for about two months.Spring 2018 (2 years old): -staring spells started creeping back. -swelling in both knees was coming and going. She was in extreme pain and couldnt walk more than a few feet. Rheumatologist said it wasnt arthritis, it was growing pains. Referred to PT. -we werent super worried about the staring spells, and wanted to wait until the arthritis was sorted out to see neuro. The staring spells were coming more frequently. Her speech therapist asked us if wed ever had her evaluated for epilepsy, as she sees several kids with it, and our daughters episodes were scaring her. -We decided to get her in with neuro. It would be a two month wait.May 2018: -second opinion rheumatologist said there was obvious arthritis and sent her for a second round of steroid injections. Allergy had deemed the first reaction as a coincidence, not from the injections. -had an allergic reaction to the injections again. -she begins collapsing and falling pretty much non stop. To the point where PT and Speech therapists were suggesting a helmet because she wasnt catching herself when she fell.June 2018: -steroid injections failed -our first appointment with PT. PT noticed several left side deficits, severe balance issues (that were worsening), and wrote a letter to neuro suggesting an MRI be done. -woke up soaking wet, dripping in urine, and her urine was brown. Took her to the ER, ER noted it was brown but testing was normal, and she was well hydrated. -had an episode where myself and her speech therapist were present. Eyes glazed over and she started walking around like she was drunk. She became delirious. Then that turned into manic aggression (totally out of character). It lasted 20 minutes start to finish, ended with several staring spells. Speech therapist wanted to call an ambulance. 4-5 minutes later, she was completely back to normal. Took her to the ER where they said it was behavioral. I insisted they call neuro, who said it sounded like worsening seizure activity and scheduled an EEG for the next month. -pediatrician urged us to go to a different childrens hospital and demand an MRI. CT showed a small arachnoid cyst, MRI was clean. Her left side reflexes were slow, and she had a positive babinski reflex on left foot. -lost gross motor skills like squatting or standing up without using hands. Could no longer identify letters, though she had been able to since before 2. -discharged after a negative EEG, but nothing happened while she was hooked up. Told us to get video. -balance continued to deteriorate, along with left side deficits. -got videos of staring spells, neurologist said that it could be seizures or it could be sensory. She passed sensory tests with flying colors, OT said it was highly unlikely to be sensory. Neuro told us to go to a different hospital. -things calmed down for about 3 weeks.July 2018: -PT started noticing balance issues worsening again, she wouldnt catch herself when she fell or even try to. Began falling 2-3 dozen times a day. -she began dropping. Like a robot running and then its power source dying. My husband and I would have to sprint and throw pillows or our hands under her head to keep it from hitting the floor. We couldnt be more than a few feet from her. She would collapse, lay there for 10-20 seconds in a haze, and then sit up. -July 19th she told us her head hurt. A few minutes later, she looked out of it. I pulled out my phone because it mimicked the look when she had the episode of delirium. She began stumbling, so I pulled her onto my lap. She began aggressively rubbing her face and making weird faces. Her body then began to jerk/shake. Lasted 20 seconds. When it stopped, she continued to lay down, still, with her eyes glossed over. Her urine was brown again. -pediatrician sent us to ER. Admitting doctor said it was a tonic clonic seizure based on the video. Was attached to a vEEG for 9 hours, nothing happened. EEG was clear. Doctors said it was behavioral and released her from further neurological care. said there was nothing wrong with her. They called her speech therapist who was livid, as she had been watching her deteriorate right along with us. I needed backup since the doctors were blowing me off. Doctors told speech therapist it was behavioral and from sleep deprivation. But she slept 14 hours a night. -as month goes on, shes dropping and having staring spells non stop. -PT says nothing about daughters exam makes sense. Her balance is awful and deteriorating when walking, standing, crawling, kneeling, but she can jump. Shes developmentally advanced so it doesnt seem lime it could be a developmental issue. Shes also watching my daughter turn into a shell of herself and is begging doctors to do something. -MRI of knees and hips was ordered by new rheumy after worsening gait issues. MRI showed a healing stress fracture in the knee, along with bone marrow edema (with no trauma to explain it) -went limp on a ride at six flags and her eyes rolled to the back of her head for a full 2 minutes. -went to playground and she was climbing one of those coils. Body went limp and she fell 5 feet. I caught her and set her down while her arms twitched and she was unresponsive. Slept for several hours after, and took several minutes of shaking to wake up.August 2018: -basically everything continued with no answers from anyone.October 2018: -a 3 day inpatient EEG was scheduled and nothing happened. I mentioned to the doctors that it looked like a mass was growing on her legs and they didnt look. Sent us home. -pediatrician saw the masses and sent us to orthopedic surgeon. -the muscles in her left knee began to atrophy, despite her being crazy 24/7. She never sits still and is always jumping/climbing/running. Orthopedic surgeon said it was definitely neurological, sent us to a new neuro. The atrophy was so bad we were approaching loss of mobility. She still cant walk for more than 1-2 minutes at this point. -atrophy worsens until November. Other symptoms start to go away.November 2018: -started methotrexate injections for the JIA.January 2019: 3 years old. -urine began to darken again. -symptoms started popping up mildly. -had episodes where shed scream and rub her legs manically saying bees were attacking her. She did it both while we were there, and when we werent. I watched her do it on the baby monitor in the middle of the night. -neuro ordered MRI of spine. Normal. -on jan 16th, I heard noises in her room. I looked on monitor and she was sitting and swaying in her bed. I got to her bed to put her back down and by then, she was jerking. I tried to get her attention but she was unresponsive and eyes were glazed over. -I pulled her onto my lap, where she remained out of it. Her body was jerking, and her right leg started convulsing like it was on a washing machine. Once the jerking slowed, I asked her to point out her nose and mouth. She failed but thought she did it. I put her back to sleep, where she remained restless. Her urine was normal again 2 days later. -urine brown again on Jan 25th. Had a staring spell at a birthday party and was unresponsive for 30 seconds. Fell asleep in the car 10 minutes later, slept for 45 minutes, and then woke up screaming. Continued to scream for almost an hour. Urine was clear again a few days later. -Neuro tested for porphyria. Corproporphyria level was 2.5x adults high normal but said it wasnt high enough to be porphyria. No pediatric reference ranges exist.February 2019: -fingers started severely pruning and turning white in just a few minutes, while her sisters hands (who was 1.5) were completely normal. -throughout all of this, little bite/pimple like bumps showed up on face/neck/joints. They come and go. In February, they got bad. No fleas, no bugs, always accompanied other symptoms.March 2019: -GI said that while shes tall, shes short based on how tall she should be since Im 510 and husband is 64. Wanted to run tests. Thinks theres a larger autoimmune disease at play. -genetics said that something is definitely wrong, doctors needs to coordinate. Said porphyria test could have been deteriorated because it sample taken at home and exposed to light in the car. Said hes concerned by the progression and created a team of doctors to evaluate her case. Was afraid it was possibly life threatening. -testing was planned for summer when she began showing symptoms again. She remained asymptomatic.September 2019: -things remained calm, arthritis was under control. -began flaring in both knees and both ankles. -staring spells, balance issues, and not catching herself came back.October 2019: -things are worsening again. -left ankle is atrophying. Neuro wont call me back. -PT is concerned she wont be able to walk soon because the stuff that atrophied last year has never come back. She still cant walk more than a few minutes without collapsing. Sleeping 13 hours a night. Is complaining of pain and isnt eating. -preschool teachers reporting odd behavior and lots of collapsing. -most recently broke her wrist because she fell down the stairs and didnt try to catch herself. She landed on face and chest, with her arm against her chest. -ETA: her urine was brown again this morning for the first time since spring.Any ideas? Weve been to four childrens hospitals and will be pursuing new ones when we move in February. Im so scared for my daughter and still cant understand the lack of concern by the doctors weve seen. I dont want my daughter to suffer anymore and I dont know what else I can do.Thank you so much.

If a second opinion is needed on this comment, I 100% agree with this. OP is free to try and ask the reddit community out of pure desperation, but be careful of lay comments, even from physicians who aren't experts in OP's child's care.

In my opinion Rasmussen would've shown up on an EEG or Scan, as the episodes are lasting a while and the activity of the inflammation would probably have been detected, though it's not impossible. I don't see how this goes in line with the arthritis, the stress fracture indicates that the loss of function and pain should not be purely neurological, maybe there are 2 problems going on simultaneously.I feel that you're a bit lost with doctors who don't do anything. So I'll suggest things to do by yourself:start a detailed diary, try to recall everything, every doctor's visit, result, try and collect the imaging done, lab results. But also start recording symptoms like ataxia, seizures, pain, atrophy. Every day. Also note any environmental changes that might occur shortly before episodes. This should include nutrition, but also stress, long exposure to sun, noise, physical activity. Get videos if you can.buy urine test strips, check her urine when it's normal 2-3 times, then when it gets dark. Check for blood, proteins, sugar. If you can, contact urine when it's brown in a clean jar and have your doctor send it to lab.if you have access to it and feel comfortable, also check blood sugar in normal and episode conditions. Again, note it done carefullyconsider to get psychological evaluation and counselling. Not only are you going through a very difficult situation, you will also avoid people saying that's only behaviour, and you're not willing to accept it. I'm not saying it is, but by acknowledging it a possibility, you rule out one more thing.consider changes in nutrition. Observe if anything changes. Might work, might not. Changes may include protein level, fat level, sugar level, etc.Then, what to do while relying on doctors:I agree with getting a second MRI. One usually isn't enough. It needs 2 to notice changes.did you get a check of the peripheral nerve system? I'd ask the neuro to check that. If they don't call back, they're probably out of ideas. Hey a new one.Get a general ultrasound of the organs.get blood test of porphyrines in normal and episode conditions.get liver and kidney blood test in normal and episode conditionsreach out to get metabolic diseases checked, like fatty acid issues, glycogen issues. Try also getting genetical analysis. I don't know about your financial situation, if you're located in usa and they don't do those, consider a visit in a different country. We have a whole ward here for diagnosis. Try reaching out to mayo or Cleveland.consider reaching out to help groups for genetic or rare diseases. They often have valuable contacts and ideas. https://www.globalrarediseasecommission.com/Report/tracks/track-1.htmlI wish you all the best!

Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification.

I would strongly recommend rainbow over ccf for pediatrics.

So to make sure that I have the situation in a nutshell: 3.5 y/o female with progressive weakness, intermittent episodes of loss of tone that are not accompanied by EEG changes, intermittent episodes of darker urine in the morning, and a diagnosis of oligoarticular JIA. Please correct anything that I got incorrect and I have some clarifying questions.-what is the state of her motor function now? Can she run, climb a ladder on the playground, fatigue quickly like walking around a store?-do the weakness episodes seem intermittent, like lasting for a few hours to days, or are they every single day.-does she have unsteadiness when reaching for objects? Having her hand seem to stumble past a cup or fork for example?-does she have any drooping of her eyelids? It would be to the point where the black of the pupil is obscured by the lid or she has to lean her head back to look at you.-following steroid injections did any of her other symptoms seem to get better? the weakness and seizure like episodes.-any family history of children passing away or having major medical issues. Do you, your spouse, or the child's siblings have any medical issues?-any issues during the pregnancy or delivery? Did she have to go to the NICU for any reason?

According to what I found online, Mount Sinai has the only genetic test for porphyria. Trust me, I had a couple hundred dollars ready to spend on the genetic testing but everyone I spoke to who was versed in this stuff said it wouldnt make a difference

TF is going on in here? What is wrong with all of you people? None of you are physicians, I doubt even medical professionals, and even the "best" "written" comments in here are absolute drivel. You are NOT being helpful. You are torturing someone while stoking a House, MD type fantasy.Dear OP, I sympathize with you. Dealing with a sick kid is trying and tough and this awful thread is NOT useful to your mind state NOR your health.A problem I have noticed in my short career has been clear communications to patients. I highly doubt after 4 hospitals, 14 specialists, and however many other physicians and staff that no one has come up with a diagnosis. What does this mean? I bet at minimum you had multiple different teams with multiple different personnel working on your daughter's case. It's possible the primary team wasn't doing their damn job of synthesizing all of the specialists information into easy to understand information and presenting that information to you. Even when we don't "know" what's going on, I can still call something idiopathic (as in I don't know) or I can throw out a variety of possible causes in what we call a differential diagnosis.To everyone saying "gEt GEnEtIC tEsTiNG". That's not even how any of this works. Even if we were to use "genetic testing" this would only confirm the diagnosis, NOT LEAD US TO THE DIAGNOSIS. Even then it is absolutely unnecessary for treatment in this case. Genetic testing is useful when we are performing family planning or working on research on illnesses. To my knowledge, and I'm open to any updates, bread and butter medicine does not YET have the tools to use genetic testing in the fashion many of you seem to think exists.

Thats been our understanding. Genetic testing is like the final puzzle piece once all of the other testing is done, and narrows down the list of possible causes. The geneticist said there was a list about 30 things long that he thinks it could be, but wanted further testing before divulging them, which I get.We have seen 4 childrens hospitals but the specialists span. Weve seen 1 endocrinologist, 1 allergist, 4 neurologists, 3 rheumatologists (our new rheumy actually suggested another opinion since she was out of ideas too), 1 GI, 2 geneticists, 1 orthopedic surgeon, and 1 ophthalmologist. They were supposed to be coordinating on a team that diagnosis rare diseases, but when she remained asymptomatic, we held off. We didnt want to put her through anything more if the tests would be inconclusive, under the direction of the team. But red flags have been popping up over the past few months, and theres been a lack of response or a shrug. The atrophy was so bad in the knee last year that she could barely walk. The muscle/tissues/whatever it was never grew back, and she cant walk more than a few minutes. PT is concerned that with the loss of knee support, the ankle atrophy is going to be detrimental. Which is how I ended up here. Her pediatrician finally got neuro to call us and shell now be getting ultrasounds of both legs.I wanted to take a list to her doctor and say could it be any of these?Shes spent most of her life in constant pain, in doctors offices, and its just killing us. I want her to have a normal life, and if she cant, I just want to make it as pain free as possible.

The most important thing I can recommend is finding a good PCP to make sure you have a medical home. That doctor should keep track of everything and keep the puzzle pieces together for you. I'm hoping that's already your pediatrician. From what you write, it seems like each specialist is stumped and is each trying to treat symptoms as they see it. Let's say we can't find what is going on, this is what we would be doing anyway. I say if things have been continuing to worsen, you may try another hospital system. I'm partial to Mayo, CHOP, and Children's National. On the other hand, you may have to consider that there isn't much to do but keep her comfortable. Palliative doctor's role are just that, keep people with chronic disease comfortable. That may include working with PTs, pain specialists, and whatever other tricks they have up there sleeves.

'm not a doctor. Along with a suggestion, I just want to say how sorry I am to hear about your family going through this. I know how terrible I feel when our daughter just has a cold.Because I'm not a doctor, I don't have a diagnosis to suggest, but instead I want to suggest that you start collecting data, lots of data, then find your most analytical friend(s) and get them looking at it. They don't have to be a doctor; they're more likely to work in science, technology, engineering, business or law.What I'm suggesting you collect is literally everything your daughter eats, drinks, does and where she goes, including basic nutritional information what she's eating and drinking - carbohydrates, fats, etc. The same stuff that they put in big letters on most food packages.Along with that, put in what symptoms she had and how bad they were; devise a rating for her day if nothing else, where "5" is "it was a terrible day" to "1" is "she barely had any symptoms at all."This is going to be a complete pain in the ass.If it's a metabolic problem, there's a chance you'll see something like "when she has a high-carb, low-fat diet, she has a bad day" or "when she has a lot of fat, she does great" or some other permutation.If it's somehow an environmental problem, then maybe you'll see that "when she stays at grandma's house she's better than when she sleeps at home" or "if she doesn't go to school, she's better" or "she played in the basement today and she's a wreck."The doctors are clearly missing something, and maybe with some analysis you can find some clues to point them in the right direction. You may have the problem that they've already made up their mind about her and there's no changing it; in that case, you also need new doctors.Best wishes.

Posts by unflaired users that claim legitimacy by virtue of professional medical experience are not allowed.If you are a medical professional who wishes to become a verified contributor to this subreddit, please message the moderators with a link to a picture of your medical ID, student ID, diploma, or other form of verification. Imgur.com is convenient, but you can host anywhere. Please block out personal information, such as your name and picture. You must include your reddit username in the photo!We do not accept digital forms of identification.

Rash EVERYWHERE? Please helpHello, so a little background. I am a 23yo F. I suffer from an ED and weigh approximately 80lbs and am 51. I was diagnosed with MCTD, scleroderma, dermatomyositis, and a grocery list of other things, but I feel those are most prevalent to the issues I am having. I also use marijuana regularly as well as vape. So. I moved to MI from MO last summer. Ever since about.. November 2021 I have been having skin issues. The skin is incredibly dry, most spots opened and scabbed and now they hurt and itch. No lotion I have tried (10+) seem to help. I have it on my legs, arms, chest, hip, back, face, behind/in my ears. Ive never had my skin look like this while living in MO. I have seen my PC and I have a rheumatology appointment end of April. I dont even want to imagine how much more this will progress. Does anyone know what this is? Or how I can manage it to minimize symptoms? Im at a loss. Please help! Skin rash

Images do not allow us to see the extent and appearance of the eruption. A diagnosis is not possible. You are medically complex and you need dermatology care. I work closely with many rheumatologists and we have mutual respect. I would not count on a rheumatologist to manage your skin.

What does high glucose in a CSF mean?28, Female, T1D 14 years, 59 165 lbs. I have upper extremity weakness in my legs and arms, worsening over the last year. Cant walk up stairs, all my tests come back inconclusive including genetic testing and nerve (I mean literally I have had an ENTIRE work up- MRIs, X-rays, blood work, neurology, spine clinic, rheumatology) so Im left with getting a triple muscle biopsy and had a spinal tap today. The only result that came from that was high glucose CSF and I cant find anything about what that signifies versus the low glucose.ETA: additional test results just came back showing high wbc and rbc in the fluid.

Generally we're looking for low glucose in the CSF, as that's a sign that bacteria may be in there. There's usually a ratio between CSF and serum glucose (CSF is about 60% of serum), so I'd wonder if your serum glucose was just on the higher end when you got the LP done due to your T1DM.