Joshua G.
Iowa
Birth Date: July 14, 2010
Diagnosis: KIF1A & Epilepsy
Theme: Mario Video Game
Due Date: June 1, 2021
Joshua's Story
Josh was born at 39 weeks, healthy and happy. He very soon began to show symptoms that things were not so. At 3 weeks, we rushed to the hospital for the first time with stridor, discovered to be caused by GERD and subglottic stenosis. He was never able to hold his own head or sit, so at 9 months, we began physical therapy with a diagnosis of hypotonia. We continued to need physical therapy to meet all milestones.
At age 4 we finally received diagnoses of intellectual disability and autism. Very soon after this seizure activity began and the diagnosis of partial complex epilepsy was made. We continued to treat everything while adding an ADHD diagnosis that exacerbated everything else.
Finally at age 9 the physicians decided there was more going on than we were seeing. Genetic testing produced results of KIF1A, a rare neurodegenerative genetic disorder that can be fatal. This is mostly unknown as only 200 worldwide have it and will be a very unknown course.
"Josh loves his quilt and is already snuggled up under it."
