Ayla and Otto's Story
“We are so grateful for the support of the CRF Community, the scientists doing ground-breaking research to improve the lives of people living with cystinosis, and the families thrust onto this journey with us. We have so much hope for the future!”
When Ayla was two years old, we noticed her growth starting to slow and her seemingly endless thirst. After getting bounced around to many different specialists, her chart landed in the hands of a nephrologist at Boston Children’s Hospital, who saw us in his office the next day. His suspicion – later confirmed – was that Ayla had cystinosis, a rare genetic disorder that causes cystine to accumulate in cells throughout the body. She soon began a regimen of medications, including electrolyte replacements, Procysbi® (which she mixes with ketchup to this day), and cysteamine eye drops. She adjusted incredibly to this new routine.
At the time of Ayla’s diagnosis, we were pregnant with Otto. In his early months, we watched him closely for any signs or symptoms. When he was eleven months old, his growth started to slow, and soon he was diagnosed with cystinosis as well. Because he was in awe of his big sister, his transition to starting medications was relatively easy – if she did it, he wanted to do it!
As we write this, in 2024, Ayla is 8 years old and will be starting third grade in the fall. Otto is five years old and will be starting kindergarten. They attend the same school and get to wave to each other when they see each other at recess or hang out together at the nurse’s office when they do their eye drops or aren’t feeling well. They are each other’s biggest supporters and constant companions. Although the sibling fighting has picked up a bit in the last year, their love for each other is boundless, and it is so incredible to watch them grow together and overcome so many challenges – cystinosis-related and otherwise! Ayla is a social butterfly who wants to try everything – soccer, circus class, piano, girl scouts. Otto loves art and helping Mommy in the garden. Both kids are avid readers: Ayla is working her way through Harry Potter #5 and Otto is very into the “Nate the Great” series.
Sometimes cystinosis can feel all-consuming, whereas at other times, it is very much in the background. We are so grateful for the support of the CRF community, the scientists doing ground-breaking research to improve the lives of people living with cystinosis, and the families thrust onto this journey with us. We have so much hope for the future!
Love,
Amelia, Tim, Ayla and Otto
