Feb 01, 2018
When the participant was an infant, he was found to have drooping eyelids (congenital, bilateral ptosis) and damage to the nerve that connects the eye to the brain (optic atrophy). Both of these have worsened over time. He was also delayed in meeting his milestones (global developmental delay) and did not walk until the age of 2. He had difficulty speaking (dysarthria), but he is now able to be understood and has mild dysarthria. He also has difficulty controlling his muscle movements (ataxia) and low muscle tone (muscular hypotonia), but this is not visible in everyday activities. He becomes tired more quickly than he used to (progressive fatigue). He is currently 1-2 years behind academically, but is improving in his speech and walking with physical and occupational therapy.
His older sister, who is 15-years-old, was born early and is more moderately affected than her brother. She also is farsighted (myopia), was born with a hole in the heart (atrial septal defect), and has sleep apnea and eczema.
If this participant sounds like you or someone you know, please contact us!
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