James is a 22-year-old KIF1A superhero. His mom shares, “Treatment is so important because it can impact his quality of life as well as life itself for James and those impacted with this horrible disorder.”

A Message from James’ Family:

James was born 8 lbs. 9 oz. on February 12, 1998. After a few months he demonstrated delays with his milestones, low muscle tone throughout his trunk and extremities. At his one year check I asked the doctor to refer him to a neurologist and ophthalmologist due to his low tone, ataxia, delayed protective reactions and delayed milestones. The doctor told me that he was “Just a thinker.” I pursued the specialist anyways. The first MRI did not show anything significant. However, the second MRI at age two confirmed cerebellar atrophy and possible brain stem atrophy. Over the next few years James went through several tests including MRIs, bloodwork, spinal tap, and muscle biopsies, as they thought he possibly had a mitochondrial disorder. He saw several specialists and started therapy at 16 months. Then he was sent to Cleveland clinic for genetic testing but at that time nothing was confirmed.

James had a few seizures at age 4 and was on seizures medication until age 8 when he was weaned off and seizure free. He had a Nissen fundoplication procedure at age 8 due to moderate ulcerations in his esophagus from reflux.

James is a hard worker and determined. Even through all of this James was a very happy and social infant/toddler and young child. He has an awesome sense of humor that has always been age-appropriate while other skills are delayed. During his teenage years James became more aware of his limitations in comparison with his siblings and peers, which was frustrating to him. However, he never gave up. James has more initiative to tackle tasks than most his age. He loves to help people and has a huge, kind and sensitive heart. James has an infectious smile, laugh and personality. He likes to go out and be social, loves trucks, construction signs and anything that has a hitch or wagon. James gives the biggest and strongest hugs.

James was finally diagnosed with KIF1A in December of 2017 when he was 20 years old.  KIF1A affects his daily life tremendously.

Every day is a challenge just to complete daily tasks. It entails numerous falls, injuries, daily stomach pain, seizures (which started again at age 21), and over the past few years worsening neuropathy in his lower extremities and decreased vision.

James makes me proud every day at his contagious laugh, smile and personality despite his challenges. James is the first one who wants to help and tackle work around the house. He will move long tree branches while trying to hold them and walk with his walker or move a cord of wood while in his wheelchair. No task is too big!!

My hopes for my superhero James is to one day be out of pain, seizure free and to not lose his eyesight, ability to walk with his walker or decline in his current skills.  

Treatment is so important because it can impact his quality of life as well as life itself for James and those impacted with this horrible disorder.

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