Metabolic Disease

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.

Amber’s story

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.

Steven’s story

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