Community

Patient Stories

Meet some of our patients and their families. Contact us if you would like to share your story.

Anna

Our lovely twins Anna & Maria were born 3 weeks early in 2016. We live in a town in Germany where both of us grew up, and where the rest of our family…

Enzo

We have two children, a 6 year old girl, and a boy named Enzo who just turned 4. From early on, Enzo has always wanted to do what his big sister does…

Laura

Laura was diagnosed with ADCY5‐related movement disorder (ADCY5‐RMD) several years ago, and she is now 14. We live in Florida, where Laura enjoys ballet, gymnastics, cheering…

Grace

Grace is 4 years old, has two older brothers and loves the color pink. We live in Sydney, Australia, and Grace loves to go to the beach with her family…

Adryan

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…

Kendall

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…

Maya

We welcomed our first child, Maya, into the world in February 2013. She was strong, happy, healthy and ‘typical’ in every way at birth. Our first gut feeling…

Lilly

Lilly is using her personal experience and writing abilities to be an advocate for the Rare Disease and disability communities. She is currently earning her Master of Arts…

Olive

Our funny, tender and amazing Olive is 3 years old. We lived in NYC for the first years of her life, where she was diagnosed a little before turning 2, but Olive…

Francesca

Our mornings are somewhat different to those of anyone else with 3 children. It’s a rush for all of us, we get up, we eat our breakfast and drink our milk…

Hugo

After a few years of unanswered questions, of fear, of a deep feeling of powerlessness, of incomprehension, punctuated by appointments, analyses…

Ginevra

Ginevra is only 8 years old, but mentally she is definitely more mature — I imagine this happens to children who immediately have to deal with diseases and hospitals…

Djaro

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). Djaro loves playing video games!…