Noah is an adventurous and resilient seven-year-old from Illinois, USA, and among the first children diagnosed with KIF1A Associated Neurological Disorder.
A NOTE FROM NOAH’S MOM
Noah was born December 1, 2011 via emergency c-section. His first few months were rough as I knew in my gut something was off with my baby. Everyone wanted to reassure me but as a mom I knew my little boy wasn’t like the rest. He was born with low muscle tone. He reminded me of a rag doll who cried to be held all of the time. At eight months doctors finally recognized missed milestones such as failure to roll over, sit up, and crawl. Therapy was a new normal at our home. At age two hell broke loose. Noah went from being a fun loving happy little boy who loved to babble to his stuffed animals and crawl and cruise around furniture to a zombie with a blank affect. He would cry often and lost most of the skills he had learned in therapy the previous year.
Right before his third birthday St. Louis Children’s Hospital Neurology department gathered around him as he was admitted for absence seizures. CAT scans showed cerebellar atrophy. The team was astonished. This was RARE! Ataxia, low muscle tone, and cerebellar atrophy in a child was almost unheard of in 2013. After a year working with genetics we had our diagnosis… a genetic mutation in the KIF1A gene. In early 2015 there was only one paper written about KIF1A mutations in humans involving 12 individuals so as far as we knew we could have well have been number 13. Soon after the diagnosis, Noah and I set up the first Facebook support group in 2015 and in two years it blossomed into KIF1A.ORG. I love our KIF1A family almost as much as I love my Noah. Noah gives me a purpose in life.
Now Noah is a big brother to an energetic curious little brother. Noah enjoys going to school, riding horses/ Hippo therapy, playing with his little brother, trying new foods, and enjoying life as much as possible.
KIF1A families thank Cassie for her relentless advocacy for KIF1A.ORG. Cassie has led multiple fundraisers to advance KIF1A research and support the KIF1A.ORG Family Travel Fund to help reduce the financial burden on families traveling to the KAND Family and Scientific Engagement Conference. We appreciate you, Cassie!