Patient Stories
We understand that each diagnosis and each family's way of coping is unique. We want to reassure you that you are not alone. You have a dedicated metabolic and genetics team, as well as other CHOP families who are experiencing a similar diagnosis.
Some of those families share their stories here to provide support and hope to other families.
Living with Gaucher disease
Amber’s mom knew something was wrong when her 9-year-old daughter experienced chronic pain, bruised easily and vomited often. But the young girl also wasn’t growing. The family found answers and treatment at CHOP.
From China to CHOP
Half a world away from Hong Kong, Diana Huang learned her nephew was sick with a rare — yet treatable — disease. Unfortunately, the treatment wasn’t readily available in China. With the permission of her sister, the Pennsylvania woman brought the boy to CHOP for treatment and a new life in America.
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