Djaro’s Story

Hi! Can you start by sharing a little about yourself and your family?
Our son Djaro is 10, from Wekerom in the Netherlands, and has ADCY5‐related movement disorder (ADCY5‐RMD), the rest of the family isn't affected with ADCY5‐related movement disorder (ADCY5‐RMD). Djaro loves playing video games! We — mom, dad and Djaro — also love to be in nature and take walks. Djaro uses a wheelchair for school and longer distances, but we take walks just to keep the strength in his legs. Djaro is a very smart young boy, who doesn't like math but is very good at it. He is just a happy boy and we are very proud of him. 

Can you tell us about the first symptoms you noticed?  When did you first realize there might be something different or unusual? 
Djaro’s grandma noticed something just wasn't right when he was 9 months old — he couldn't do things other baby's could, like crawling, or sitting up straight without falling over. We went to a physiotherapist who said there was nothing wrong with him, but after a few months there were no improvements, so we went to another physiotherapist who said something wasn't right — just like grandma. We were very sad, because we didn't know what was wrong with Djaro, and while the physiotherapist didn't know either, he tried to make him stronger with some exercises. 

What was your journey to getting a diagnosis? What specialists or testing did you go through, and how long did it take to get the result?
We went to the hospital and saw several neurologists, geneticists and many other doctors, but nobody knew what was wrong. We thought we were going crazy, because we knew something wasn't right. Eventually, we met a neurologist at the Radboud UMC, Nijmegen who did a new genetic test on us. We had to wait a very long time, but finally that’s when we got a diagnosis: ADCY5 (c.2090G>T), de novo.

Describe how you live with ADCY5‐related movement disorder (ADCY5‐RMD) day-to-day: how is your routine similar or different to others? What are some ‘wins’ and ‘lows’ right now?
We have to help Djaro with a lot of things, like dress him, wash him etc. He is still in diapers, we think because he can't feel when he has to go to the toilet. We are scared of the future, because we don’t know what ADCY5‐related movement disorder (ADCY5‐RMD) does long term. He loves to walk, but often falls, and we’re scared it will happen more and prevent us from doing that anymore. But we are very happy at this moment, and live by the day. 

“We don't take anything for granted, and we think the love we have for each other is the most important thing — more important than things we can or cannot do.”

What are you excited about when you think of the future? How has your outlook changed (before and since the diagnosis), and what gives you hope?
Djaro: I hope that I don't fall that much anymore. 

Mom and dad: we hope he will always be happy. 

We don't take anything for granted, and we think the love we have for each other is the most important thing — more important than things we can or cannot do. We have learned that we aren't crazy, or maybe just a little bit :)