Alex’s Story: An Odyssey From Diagnosis to Treatment

When Caroline Cheung-Yiu’s son Alex started to walk around age two, it was clear that he was struggling with his balance and coordination; but instead of improving, his issues started getting worse instead. As his problems became more pronounced, Caroline started recording his movements in hopes that it would help them get a diagnosis. By age five, Alex couldn’t walk without extra support, and a year later, he couldn’t even stand on his own.

Alex’s issues continued to progress. By age seven, his speech was impossible to understand. He began having trouble feeding himself and endured terribly painful muscle spasms, resulting in sleepless nights. He then progressed to seizures and difficulty swallowing. Alex eventually required ventilation support in order to stay alive. Through these terrible years, Caroline had no idea what disorder was afflicting her son.

Only through an unexpected circumstance did Alex’s genome get resequenced. His genetic makeup matched up with a recently described and extremely rare disease called interferon regulatory factor 2 binding-like (IRF2BPL) – related disorder. To learn more about this rare disease, click here.

Through the Rare Genomics Institute’s RareWear program, Alex was able to acquire a wearable device which monitors his vital signs, such as oxygen levels. This monitoring is critical to help manage his symptoms and keep him alive.

“I support the RareWear program because bringing medical devices at no cost to families can improve their quality of daily living. The patient experience is (also) useful for medical device manufacturers in the development of their devices: patients’ feedback on products is also taken into consideration during regulatory approvals. RareWear is new, and nothing like I’ve ever seen before. I hope (the Rare Genomics Institute) expands the program in the future.” – Caroline Cheung-Yiu, Alex’s mother

RareWear works with digital health and medical device companies to provide patients with medical devices that can help them manage or monitor their rare condition. This can help patient families understand more clearly the assistance and treatment that may be needed. To learn more about the program and submit an application, click here

Check out the original story from our partner, the Rare Genomics Institute, here.

To learn more about Alex’s journey, click here.

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