Patient Perspective: A conversation with Paulien
When did you first start experiencing mitochondrial disease symptoms and how long did it take to get your diagnosis?
I had a very happy and carefree youth. I have always been a slow eater and when I was about 10 years old my eyelids began to drop a little. We didn't think that was something to worry about. A few years later in high school my eyelids dropped a lot more and something so visible caused a lot of comments and laughs, which made me very insecure. Around 15 years old I wanted to know what caused it and visited my local doctor. He sent me to a neurologist who found out that my eyes didn't move anymore. After a year of research, he couldn't give me an answer so referred me to the academic hospital in Groningen. The neurologist there suspected a metabolic disease right away but it took a long time before I got my diagnosis aged 18 years in March 2002My doctor told me I had Kearns Sayre Syndrome.
How has your diagnosis impacted your life?
The diagnosis was a big shock but also the last puzzle piece to my questions. It changed my life completely. It explained why I had to work so hard on keeping up with my friends and school. It wasn't my fault, I'm not lazy but I have a disease. On the other hand, it was a progressive disease without a cure. My future became so insecure, and I had to give up on dreams like becoming a mom.
My parents and I put our focus on living day by day and making my other dreams come true. I got to walk 14 kilometers (when I still could) on Hawaii to see lava flowing into the ocean, I swam with sea turtles and saw the Big Five on a safari in South Africa. And I got my diploma in Business Informatics in 2006. Finishing school took all of my energy and more. My eyelids got corrected, I couldn't lift them over my pupils anymore and two years later I got my first wheelchair because walking significant distances was no longer possible.
I found a balance in doing things that make me happy and by listening to my body to take rest, that helped to seemingly slow the process of getting weaker.
The day-to-day challenges are mostly the lack of energy, or moreover exhaustion, that keeps me from participating in many social gatherings. I get a lot of help from my amazing parents and help from a great lady for chores at home. I'm an optimist and love to live alone in my own home and at my own pace. I do volunteer work for the Energy4All Foundation (www.energy4all.nl) from my home – something I love to do! I never have to explain why some days I don't have enough energy and it feels good to do good for the mitochondrial disease community, awareness and the research for a cure.
Have you received any treatments?
I've tried many of them, like supplements, acupuncture and physiotherapy but nothing really made a difference and mostly cost me more energy to go there. I accepted the fact that this is it, because of my mitochondrial disease. The only thing that really helps me is going on vacation to warm destinations or hot summers. I feel so much better after just a few days.
How has the mitochondrial disease community supported you and your family?
I wanted to help my doctor, professor Smeitink, with his missions to find a cure and raise awareness for mitochondrial disease. He introduced me to the Dutch Energy4All Foundation and I have been an ambassador since 2008. I have met a lot of 'fellow sufferers' and built-up friendships, we even speak of our mito family. We understand each other and I can help here and there with my experience. The kids give me the power and strength to be thankful for what I have and gives me energy to raise money for the research to find a cure.
Why do you think it is important to raise awareness of mitochondrial diseases?
It's so good to see you are not alone in this. To feel part of a group is very special when you don't fit in most groups. It is important for everyone to see that people with a rare disease are also just beautiful people despite being a bit 'different' because of their disease.
What are your hopes for the future? For you, personally, and for the wider mitochondrial disease community?
My biggest hope is that the potential treatments that the likes of professor Smeitink and his team at Khondrion and the Radboudumc hospital are working so hard on, get through the final phases of research and development. If these medicines are made available for us, I hope we can feel better and live longer.
Besides hopes for a cure, I am thankful to celebrate my 38th birthday soon and wish to make it to 40 and beyond. I want to see my nephew and niece grow up for as long as I can and enjoy life with my family and friends.
What advice would you give to others affected by mitochondrial disease and to their families?
First of all, you're not alone. And it truly is scary and sad sometimes. But also, there isn't an actual manual for dealing with this horrible disease. Follow your heart. Try to get to the real mitochondrial disease specialists for the best advice. Stress and mito do not go hand in hand. Read about or contact others who are dealing with this and, although it's a roller-coaster, try to enjoy the ride now and then. Ask for help, so many people around you want to help but you have to ask and that's ok and even extra special to make other people part of your 'team'. Most importantly, talk about your feelings, nobody can carry this burden alone and it gives others so much more insight into what you are going through. Together we stand strong! Enjoy the little things and make dreams come true while you still can.
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