Jim is currently 37 years old and lives in Long Island, NY. It took over 30 years for Jim’s family to get his diagnosis: “The results revealed what could not have been known in 1981–that Jim did not have cerebral palsy and instead had an incredibly rare genetic disorder called KIF1A.”
|A Message from Jim’s Family:|
Jim was born on August 5, 1981, without any issues or complications. However, by the time he was two years old, it was apparent that he was missing several milestones.
After countless doctor visits and opinions, Jim was eventually diagnosed with cerebral palsy. He attended special education classes throughout his academic years and received physical, speech, and occupational therapy. Despite significant obstacles, he was a happy kid. He enjoyed going to school, watching TV and movies, and drawing and painting.
After noticing Jim’s declining motor skills and vision, we began seeking explanations from doctors. Cerebral palsy is not a degenerative disease and a new neurologist suggested that Jim undergo genetic testing. The results revealed what could not have been known in 1981–that Jim did not have cerebral palsy and instead had an incredibly rare genetic disorder called KIF1A.
Jim is extremely strong willed and repeatedly ignores barriers placed before him. He learned to ride a bicycle, drive a car, and worked full-time. He saved his money and eventually purchased his own home, where he lives to this day.
However, Jim has struggled with the progression of KIF1A. His declining motor and vision skills forced him to stop driving years ago and last year he had to retire from his job. He still lives independently, but requires more assistance than he used to.
Jim loves watching TV and movies, making art using his computer, and spending time with his family, particularly his niece and nephew. He is hopeful for any sign of treatment or cure.