Sutton is 4 years old and lives in Tennessee. Her mom says “We hope that one day there will be treatment so that she can learn to speak or use her legs. For now, we will continue enjoying our sweet girl while fighting for more answers.”
A Message from Sutton’s Family:
Sutton was six months old when we knew that something wasn’t quite right. She wasn’t sitting or rolling all the way over on her own. She didn’t make eye contact with us or reach out for toys. She was a happy baby though. She hardly ever got upset, and she always seemed content no matter where she was. So, we didn’t start looking for answers until her 10-month appointment when she had hardly made any progress on the milestone checklist. She was referred to a specialist and early intervention services and thus began the search for a diagnosis.
We didn’t receive the correct diagnosis until she was two and half years old. We had incorrectly been told Leber’s Congenital Amaurosis and had it ruled out by an ERG at high expense to us. The genetic testing that led to Sutton’s KIF1A diagnosis took four months for results. When we had the testing done, we were told not to expect much. So, it was a surprise when we got the call telling us to come in for the results.
Like everyone else who receives the news of having a rare diagnosis, we went through several emotions simultaneously: relief at having an answer, confusion at never having heard of KIF1A, fear of the unknown, and devastation at the term “neurodegenerative.” We couldn’t believe this was happening to us.
We could easily get lost in the rabbit hole of negative thoughts and feelings, but we just have to look at Sutton and she pulls us out. She may not be able to walk or crawl, but she paves her own way to movement by scooting and worming her way wherever she wants. She may not be able to talk, but she makes the most angelic noises with her laugh and joyful squeals. She may not be able to see our faces, but she knows us by sound and touch and shows us her affection with hugs and squeezes.
We hope that one day there will be treatment so that she can learn to speak or use her legs. For now, we will continue enjoying our sweet girl while fighting for more answers.
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KIF1A.ORG is dedicated to accelerating research to find a cure for superheroes like Sutton. You can help. Treatment is within reach, but there are two obstacles in our way: time and money. Give today to empower KIF1A families to achieve our mission for this generation of KIF1A superheroes.