It was after midnight when Alex Fallon’s 6-month-old son, Oliver, became inconsolable and began throwing his head back and jerking his legs in the air. Concerned his unusual movements might be related to a recent respiratory infection and parenting alone while her husband was away for work, she called a pediatrician, who advised her to head to the nearest emergency room.  

There, Alex learned Oliver wasn’t reacting to a virus. He had been having a seizure.

Physicians diagnosed Oliver with congenital hyperinsulinism (HI), a rare condition in which a person’s pancreas produces too much insulin, tanking blood sugar levels and depriving the brain of important fuels it needs to function. Although he first received care at a hospital in New York, an online search later led his family to CHOP, home to the busiest Congenital Hyperinsulinism Center in the world. Now 22, Oliver outgrew his condition when he was 7 — but the Fallons’ connection to CHOP persists through their generous philanthropy, which has supported HI research for almost 20 years.

“CHOP was so helpful during such a scary time,” Alex says. “I know what parents with newly diagnosed children are going through, and I know not all their kids will have the positive outcome we did. To us, giving is a no-brainer because it could lead to better treatments for patients who need them.”

Understanding congenital HI

Often called “the opposite of diabetes,” congenital HI happens when inherited gene mutations disrupt the cells that secrete insulin, the hormone that regulates blood sugar. This triggers chronic hypoglycemia, or low blood sugar, that if left untreated can cause brain damage or death. The condition only affects about one in 50,000 children.

Some HI patients have mild symptoms that can be managed with diet and medication; others are severely debilitated and cannot maintain safe blood sugar levels. Oliver fell into the first category. His seizure in infancy was an isolated event, and a medication called diazoxide kept his blood sugar steady.

Oliver’s diagnosing physicians instructed his parents to restrict his protein intake and maintain a strict “balancing act” between protein and carbohydrates — a tall order when preparing meals for a family with two other children. When Alex’s dad (Oliver’s grandfather), Clifford Goldsmith, learned about HI expert Charles Stanley, MD, through a Google search, he suggested they visit CHOP for a second opinion.

A prolific researcher and pediatric endocrinologist, Dr. Stanley founded CHOP’s Congenital HI Center, where clinicians confirmed Oliver could, in fact, eat protein without his blood sugar plummeting. Later, they also determined he no longer needed to take diazoxide.

“I was able to live a more normal childhood because my grandfather found Dr. Stanley,” Oliver says.

Funding for the future

The gene mutation that sparked Oliver’s illness remains unknown, which is one of the reasons expanding congenital HI research is critical. The more studies investigators can do to identify its molecular mechanisms, the more new therapies they can develop.

After getting to know Dr. Stanley and Diva De León-Crutchlow, MD, director of the Congenital HI Center, Clifford began supporting their research. In honor of his generosity, the HI lab at CHOP was named the Goldsmith Fallon Hyperinsulinism Laboratory.

“My dad understood how hard it was to find funding for rare diseases,” Alex says. “He was very impressed by Drs. Stanley and De León-Crutchlow, and he was always dedicated to philanthropy, so I was not surprised when he began giving to CHOP. That’s just the kind of person he was.”

Clifford died in 2014, but Alex and her mom, Katherine Goldsmith, continue to support the Congenital HI Center today, a decade and a half after Oliver — a recent college graduate who is starting a new job and loves traveling, reading and pickleball — outgrew his condition.

Existing treatments for HI are limited, and Dr. De León-Crutchlow has applied the family’s gifts toward research into treatments for children who do not respond to diazoxide, like Oliver did. Most recently, Alex and Katherine have helped to fund a clinical trial of a drug called exendin-(9-39), which targets the underlying pathophysiology of the most severe form of HI.

“This is something that we have developed at CHOP, from concept to execution of these clinical trials,” Dr. De León-Crutchlow says. “In children with diffuse HI, where all the cells in the pancreas are overproducing insulin, we must remove much of the organ when existing therapies are not sufficient to prevent hypoglycemia. This therapy has the promise of preventing the need for pancreatectomy. Through their generosity, the Fallon-Goldsmith family is playing an important part in making breakthroughs like this possible.”

Support the Congenital Hyperinsulinism Center at CHOP