Hyperinsulinism and Kabuki syndrome: Amelia’s story
A diagnosis of Kabuki syndrome connected all of Amelia’s symptoms, and CHOP has experts to care for each and every condition.
Congenital Hyperinsulinism Center Patient Stories
Our team of pediatric endocrinologists, surgeons, radiologists, pathologists, anesthesiologists, advanced practice nurses, nurses, social workers, genetic counselors, psychologists, researchers, speech and feeding therapists, and dietitians work together to provide specialized and seamless care.
Appointments
Referrals
HI Can’t Stop Abigail’s Big Dreams
Inspired by the care she received at CHOP for her HI, Abigail Ridler wants to go into medicine to help others with rare diseases.
Insulinoma: Leilani’s story
When doctors in Florida struggled to diagnose Leilani’s rare illness, her parents pushed to bring her to Children’s Hospital of Philadelphia, where she was cured.
Kabuki Syndrome: Rosalie's Story
Rosalie had been in and out of the hospital a few times at three months old before coming to the Kabuki Syndrome Clinic at CHOP for answers.
Hyperinsulinism and Turner Syndrome: Aliza’s Story
It was only after Aliza’s parents brought her to CHOP that she received expert care for her two diagnoses: Turner syndrome and hyperinsulinism.
Hyperinsulinism and Beckwith-Wiedemann Syndrome During the Pandemic: Dominic’s Story
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.
Treating Hyperinsulinism During a Pandemic: Stella’s Story
Stella was cared for by the expert team from CHOP’s Congenital Hyperinsulinism Center, the most active and experienced center of its type in the world.
Congenital Hyperinsulinism and Beckwith-Wiedemann Syndrome: Alina’s Story
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.
Hyperinsulinism/hyperammonemia Syndrome: Adam’s Story
Adam’s hyperinsulinism/hyperammonemia wasn’t well controlled until he came from Chicago to CHOP. Now he’s participating in research to help find a better treatment for HA.
Hyperinsulinism and Post-pancreatectomy Diabetes: Jenny’s Story
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.