Ethan is a sweet 8 yo boy who was diagnosed with MPS I Hurler Syndrome at 9 mo. He loves being outdoors and cuddling with familiar friends and family. He is impressive on a swing and can navigate electronics like a pro!
Ethan was diagnosed at the Children’s Hospital of Philadelphia, after a third opinion on his kyphosis. There a suspecting orthopedic surgeon with a family connection to MPS, sent Ethan to genetics to see if we were missing a bigger picture. Indeed every physician until that point was missing a much larger picture and a more devastating diagnosis than they had suspected.
After being diagnosed by CHOP’s metabolism clinic, we were fast tracked by 20 specialists and started ERT within three weeks. In addition, he was quickly added to the bone marrow registry to find a non-related donor, as bone marrow transplant is the standard of care. He received his second chance of life a few days shy of his first birthday. Since then, Ethan has been diagnosed with non-vernal moderate to severe autism at age 3 and has had double hip reconstruction surgery at age 4, where he had to learn to walk again.
Despite the medical trauma and the struggles of navigating a world not designed for him, Ethan continues to be a very loving little boy. Every emotion is pure and his soul radiates through him. His sweet demeanor and journey (with it’s fair share of both struggles and triumphs) continues to touch people’s lives–I hope changing them for the better.
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