KIF1A-Related Disorder is an ultra-rare neurodegenerative genetic disease.
While researchers are still trying to understand this disorder, mutations in the KIF1A gene cause abnormal function of the KIF1A protein, which serves as a transporter of specialized structures in our cells. Mutations of the KIF1A gene can cause a variety of medical challenges, including spastic paraplegia, cerebellar atrophy, ataxia, optic nerve atrophy and epilepsy. As of July 2017, fewer than 50 kids from around the world are known to have KIF1A-Related Disorder. Based on early results from a Natural History Study, KIF1A-Related Disorder has a wide range of severity and effects no two kids the same.
For Parker, KIF1A-Related Disorder means he cannot stand on his own, but he can get around in his trusted reverse walker. Still, his extreme unbalance causes multiple falls and tumbles every day. He has a hard time pronouncing words and mostly communicates with one or two words at a time. With limited motor skills, he often struggles to eat a bowl of pasta, catch a ball, sit up without support, or step over a curb. He may face extra challenges, but he is tenacious.
The worst thing about KIF1A-Related Disorder is its progressive course. There is no treatment or cure. Our challenges are likely to get worse over time unless we discover treatment.
Thankfully we have a team of dedicated scientists from Dr. Wendy Chung's Lab out of Columbia University in New York who are relentlessly seeking treatment for KIF1A-Related Disorder. Treatment is not an elusive dream. Our battles are with time and money, but with science and the goodness of humanity on our side, I am stubbornly optimistic that treatment will become a reality in time for Parker and his KIF1A friends to have bright, long futures ahead.