At age one, Eli wasn’t hitting his milestones so he was referred to CHEO’s neurology team. For the next 12 years Eli’s treatment followed a winding path through CHEO that included multiple tests and visits to many departments. The family was eligible for exome sequencing which involved taking blood samples from dad, Richard, mom, Judy and Eli and having all 20,000 genes per person sequenced and compared. This led to the diagnosis of a rare condition called benign hereditary chorea or brain-lung-thyroid syndrome which gave Eli a name for his condition. He now has a treatment plan and access to a team of specialists who can help.
He has a new confidence since his diagnosis. He knows he is different but it makes him feel good to put a name to the symptoms. He says, “I know what it does to me and how it affects parts of my body.” Eli is an advocate for himself and will continue to be. He is already fundraising for CHEO. In lieu of presents he asked friends to give money to CHEO for his tenth birthday. He wants the scientists to have money to learn more about his condition. He regularly says he wants to be scientist when he grows up to do research on rare diseases and help other kids like him.
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