Congenital HI Patient Stories

When a rare disorder was diagnosed in two of their children, the Linares family found hope and expertise at CHOP.

A diagnosis of Kabuki syndrome connected all of Amelia’s symptoms, and CHOP has experts to care for each and every condition.

Inspired by the care she received at CHOP for her HI, Abigail Ridler wants to go into medicine to help others with rare diseases.

With a dual diagnosis of two genetic conditions, Dominic’s family came from California to CHOP during the pandemic to ensure he got the specialized care he needed.

The partnership between her doctors at The Congenital Hyperinsulinism Center at CHOP and her local medical team in California is keeping Alina healthy and allowing her to be a typical toddler. However, her beginning was anything but typical.

A CHOP research study seeks to even out the ups and downs of post-pancreatectomy diabetes. Jenny, who has hyperinsulinism, can’t wait for the results.

The rare is commonplace at CHOP, and for children with extremely low blood sugar from hyperinsulinism, that expertise changes lives, as Ben’s family learned.

Congenital hyperinsulinism is rare — 1 in 50,000 births — and Paige had a rare type of HI. But CHOP’s expertise allowed her to be cured.