Kendall’s Story

Hi! Can you start by sharing a little about yourself and your family?
My daughter Kendall is affected by the ADCY5 variant. She is currently 23 years old, and has lived in Tennessee for the past 5 years since moving from Florida, where we’re originally from. Kendall has a service dog named Jia who is her best friend. She loves all animals and wants to work with animals in the future. She is always happy and an inspiration to everyone she meets.

Can you tell us about the first symptoms you noticed?  When did you first realize there might be something different or unusual? 
Her symptoms were first noticed by our babysitter, who thought her balance issues might be caused by an ear problem. Around 2 years of age, she walked differently, and refused to step or climb over anything. Since she was my first child, I didn’t know any different. Then around the age of 4 the movements started, first as a little head bob and gradually they got worse over time. It has been progressive, so it has been a roller coaster of emotions over the years.

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?
She originally had an MRI at age 2, which gave us a diagnosis of Cerebral palsy, and we were told it would not get any worse. But when the movements started our neurologist put us through numerous tests, including blood work, spinal taps, and MRIs, but nothing would give the doctors any idea of what was going on. We were referred to a children’s hospital in Miami where they did a nerve skin and muscle biopsy. It suspected Mitochondrial disease, but nothing was confirmed. After lots of research, I found Dr. Shoffner in Atlanta who specializes in Mitochondrial disease, met him at a conference and gave him videos of Kendall, and he agreed to see her. He repeated the muscle biopsy, gave her a diagnosis of Mitochondrial Disease complex 1 and we were told she probably wouldn’t live past her teen years — we were devastated. Over the years, we have had a lot of ups and downs; she would do really well for a while, then have some really hard times. We had a follow-up appointment with Dr. Kendall, a neurologist who had been Dr. Shoffner’s partner, and she is the one who suggested we do DNA sequencing. That’s when we found out she had the ADCY5 gene mutation, and she was 18 years old at that point.

Describe how you live with aADCY5‐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?
Kendall is on several movement disorder medications that she takes several times a day. She struggles with simple day-to-day tasks, and gets frustrated by her movements, but she never gives up. She can take a bath on her own, and can walk short distances, but uses a wheelchair for mobility and safety. She had DBS surgery about 6 years ago, which gave her great results at first, but lost its effect over the years. She is going to have the DBS surgery again this month in the hopes that a revision will get her better results.

“Kendall has a service dog named Jia who is her best friend. She loves all animals and wants to work with animals in the future.”

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?
My outlook changed a lot, from originally thinking your daughter would not make it past her teen years to knowing she will live a full life. Even though she continues to struggle, there is hope that one day gene therapy could help find a cure for her and for others. We never give up hope and push her to live life to the fullest everyday. You learn to have lots of patience and not to take everything so seriously. Most of all, we have learned to laugh!!