Adryan’s Story

Hi! Can you start by sharing a little about yourself and your family?
Adryan, 11, lives in Tennessee and loves Hot Wheels, Marvel, and really anything boy! He is currently addicted to YouTube. He has a loving doggie named Chase who is turning 5 in September. 

Can you tell us about the first symptoms you noticed?  When did you first realize there might be something different or unusual? 
Adryan was 18 months old when we realized something wasn’t right. We saw 3 different doctors in 3 different cities from Knoxville to Nashville, all who diagnosed him with cerebral palsy. It was when we saw a doctor in Memphis that we got the complete genetic testing and our diagnosis of ADCY5‐related movement disorder (ADCY5‐RMD). We were taken aback, as it was nothing we had ever heard of before and I, his mother, started doing research right away.

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?
After we started going to Memphis, it took 2 months before we got the testing approved, and within a month of having the testing done we had the results. The doctor called me instead of waiting until our appointment, because she knew how long we had waited and how hard we had searched for answers. The doctor who recommended the testing was a movement and tone specialist. She took her very first look at Adryan and said “this child doesn’t have cerebral palsy, but we are going to figure out what he DOES have” and after 5 years of being misdiagnosed we got our answers.

“Adryan has a lot of wins because he is so persistent when trying a new task and won’t stop until he succeeds.”

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?
Adryan has good days and not-so-good days, as we call them. Good days are when there are less jerking episodes and he can do more things on his own. The not-so-good days are when he has numerous episodes almost constantly throughout the day. His biggest need/worry is what he is going to injure next. We let him be as independent as possible, because he is still able to walk (with frequent falls), but he wears a safety helmet. Adryan has a lot of wins because he is so persistent when trying a new task and won’t stop until he succeeds. 

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?
Adryan “hopes they can find the right medicine so that he can function more normally”. One thing he has learned is “to never give up” and “as long as you try your hardest, that’s all that matters.”