Living Without a Label: Parenting an Undiagnosed Child

Try as I might to avoid them, situations often crop up when I have to explain my 4-year-old, nearly 5, has a medical condition. Usually it’s to cancel a playdate or explain why I’ve forgotten to do something. Sometimes it’s when we’re meeting people who will need to know, like babysitters or teachers. The conversation goes something like this:

“My son has a periodic fever syndrome. That’s an autoinflammatory disease.”

“Autoimmune?”

“No, autoinflammatory. It deals with the innate immune system rather than the acquired immune system.”

“Maybe, but autoinflammatory diseases are quite rare — like one in a million people might have his condition.”

“Have you tried eliminating gluten/dairy/everything from his diet?”

“No.”

“I’m sure they’ll figure it out.”

“I really hope so.”

“But he’ll get better, right?”

“We don’t know yet.”

And sometimes, silence. Sometimes questions: “What does that look like for him?” Sometimes a great empathetic remark: “I’m sorry. That must be difficult.”

I don’t really mind any of the responses. Except maybe for the one about viruses. And diet. Those get old pretty quickly. In fact, I usually like it when someone asks thoughtful questions — it tells me they’re trying to understand our situation. After all, it’s hard to deal with the unknown and therefore completely normal to want to label and categorize things. That’s how we make sense of life: we have a framework and we organize our worldview within it.

Unfortunately, sometimes things don’t fit within the existing paradigm, and people — including doctors, by the way — really struggle with things that don’t fit our preconceived ideas. Believe me, I’d love to fit my life into the framework I envisioned for our family — parenting a child with a rare disease was not part of the plan. But like so many aspects of parenting, the unexpected has taken my life by storm and shattered the delicate shape I imagined.

We know my son has a rare disease, but we don’t know exactly which one it is. We’ve ruled out a bunch of things, everything from Lyme disease and leukemia to strep throat and cat scratch fever. That left us with autoinflammatory as a category, and initially we thought it might be periodic fever adenitis pharyngitis aphthous ulcer (PFAPA) syndrome…but then his symptoms changed. A rash here, some eye swelling there, throw in random flares triggered by everything from illness to excitement, and now we don’t know what’s going on.

In the early months, I didn’t talk much about my son’s health issues. I didn’t know what to say; his symptoms didn’t fit in the catalogue of illnesses my friends and family members knew about — and my mom is a retired nurse. Heck, they barely fit in the catalogue our pediatrician knew about. I didn’t respond to comments like the ones above because I didn’t know how to articulate what was happening, both in terms of his medical symptoms and the impact his condition was having on our lives. Everything felt overwhelming and upside down, and I clung to the idea that once we had a diagnosis, our lives might return to normal and fit inside the nice, neat plan I’d had for all of us.

For a while, I pinned all my hopes on genetic testing — this would definitely give us an answer. I believed it would! I battled with the insurance company, and when we lost, I persuaded our son’s specialist to work with a genetics company we could afford to pay for out of pocket. Surely this would give us an answer, right? We sent off the blood sample and I counted down the days until the results were due in. The other mothers in our online support group tried to warn me: be prepared for uncertainty.

But I wasn’t prepared. I’d hardly cried at all during the diagnostic process for my son — not when he was admitted to the hospital in respiratory distress, not when his temperature repeatedly hit 106F and kept climbing, not when I had to carry him because he couldn’t walk. When the genetics came back negative, though, I cried. I cried big, fat, salty tears of misery and frustration and grief.

If we didn’t know what was wrong with him, how could we help him? If his illness didn’t have a name, could I convince other people it existed? What was the point of all the tests and trips to the doctor’s office if it ended with me at home, comforting my aching child, clutching a useless bottle of ibuprofen and a thermometer the nurses kept telling me must be broken?

In my mind, I stood at the edge of the Grand Canyon, the wind whipping past me as I stared into the abyss. Without a diagnosis, I couldn’t see a way forward. For months, I felt lost and powerless, but over time, I built a new framework for our lives that incorporates our new reality.

Now, I speak more openly about my son’s medical condition; acknowledging his illness with family and friends validates our experience. We’ve tried two common treatments for autoinflammatory diseases and while neither one fully controls his symptoms, one does help from time to time. Some doctors try to dismiss my son’s symptoms as “just a virus,” since it doesn’t have a label. I don’t allow that. Other doctors feel the need to label it something, so they choose the mildest of the autoinflammatory bunch and stick that on his medical notes. Regardless, I’ve rebuilt my courage and learned to advocate for my son. I read and ask questions and I won’t stop doing either of those things until we get some answers — even if I may never get the answer.

I’d love to end on a positive note and tell you I’ve found a way to accept the unknown, to move beyond the need for a diagnosis, but I haven’t. I still want a label and a solution to my son’s condition. Sometimes I stay up late into the night when everyone else is asleep and read complex medical articles I only partially understand. In the blue light from my laptop screen, I sift through his symptoms, looking for a clue I might have missed. My inability to quit searching is the opposite from my husband, he’s much more of a take-life-as-it-comes kind of person.

But maybe this human need to pin things down is part of what drives my ability to advocate for him. On another level, perhaps the thirst for knowledge and understanding also drives medical research and innovation. Maybe one day we’ll be able to pick up the shattered pieces of our framework for categorizing illness, the scraps of our ramshackle understanding of the human body, and put together a better paradigm that includes patients like my son.