Mar 13, 2018
When the participant was born he had a twisted neck (congenital muscular torticollis) that resulted in a flat spot on his head (plagiocephaly). His early development was typical and he began walking at 15 months. However, his parents noticed early on that he was not using his left arm and that it seemed to cause him pain. He experienced episodes of arm paralysis and leg weakness that would last for several days. He was found to have decreased muscle tone (muscular hypotonia) and weakness in his left arm.
The participant also had trouble feeding and swallowing (dysphagia), which required a gastrostomy tube (G-tube). He also has mast cell accumulation in his skin (mastocytosis) that causes severe itching (pruritus).
The participant has had two seizures. During one of these episodes, he suddenly went quiet and was unresponsive to voice and touch for two minutes.
Despite these medical challenges, his parents report that he is progressing developmentally and is doing better physically.
If this participant sounds like you or someone you know, please contact us!
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