Jaylene is rambunctious and affectionate, freely giving out hugs to anyone she senses is having a tough time.
In her 2½ years, she’s had her own tough times. She was born with Beckwith-Wiedemann syndrome (BWS), a rare genetic condition. One early complication — which occurs in 30 percent to 50 percent of BWS patients — is hypoglycemia (low blood sugar).
It was the unresolved hypoglycemia that initially brought Jaylene to The Children’s Hospital of Philadelphia and its Congenital Hyperinsulinism (HI) Center from a local hospital in northeast Pennsylvania. Most infants with BWS and hypoglycemia see their blood sugar normalize in their first three days. Fewer than 5 percent need continuous feeding or a partial pancreatectomy to move their sugars into a safe range.
Jaylene was among the 5 percent and, because she was unresponsive to both HI frontline medications, diazoxide and octreotide, she had a near-total pancreatectomy at 9 weeks old. Blood tests had showed Jaylene had extremely high alpha-fetoprotein (AFP) levels, which can indicate cancer, so Surgeon-in-Chief N. Scott Adzick, MD, MMM, also took biopsies of other organs while removing her pancreas.
“I remember him coming into the waiting room and telling us, ‘I held your daughter’s organs in my hands and I didn’t see any cancer,’” Sandra says. The biopsies came back clean, confirming that Jaylene was cancer free.
Even after the pancreatectomy, Jaylene’s sugar levels were low. She returned home on continuous feeds of dextrose and formula — “CHOP trained us how to operate the equipment,” Sandra says — but now she only receives dextrose at night through a gastrostomy tube. During the day, her HI is managed with diet.
“I know a lot of children with HI don’t want to eat, but she’s a great little eater,” Sandra says.
Jaylene hasn’t had a seizure, which can be triggered by extremely low blood sugar. “We are very blessed,” says Sandra. “There’s nothing wrong with her brain.”
Jaylene receives early intervention services and speech therapy to help with a slight developmental delay.
Her BWS diagnosis led Jaylene to CHOP’s genetics team for evaluation. Matthew A. Deardorff, MD, PhD, and his team found that she also had mosaic genome-wide paternal uniparental isodisomy (GWpUPD), an incredibly rare condition which means Jaylene inherited two copies of some genes from her father and none from her mother. Her unique genetic make-up makes her in demand for various research studies, and the family is happy to participate.
The family makes the trip to CHOP for HI follow-up and ongoing scans to detect potential tumors, even though it’s a nearly four-hour trip.
Jaylene is also followed by urology (she had surgery to remove polyps on her bladder), oncology, nephrology (her right kidney is larger), orthopedics (her right leg is bigger), gastroenterology, dermatology and nutrition. She had other CHOP inpatient stays for pneumonia, a respiratory infection and a bowel obstruction that required surgery — all before she celebrated her first birthday.
In addition to access to all the specialists, the caring way Jaylene and her family are treated at CHOP makes the long drive worth it.
“We know Jaylene is very well loved in the Hospital,” Sandra says. “Times when I have struggled, they have been there to listen and to support me.”
Originally posted: April 2014