When Leila’s mother, Olivia Lefko, was 30 weeks pregnant, a sharp-eyed ultrasound technician noticed that the baby girl she was carrying had a protruding tongue and her right kidney was larger. Both are signs of Beckwith-Wiedemann syndrome (BWS), which occurs in 1 in 15,000 births.
BWS is a genetic condition characterized by a larger size at birth and during childhood; hemihyperplasia (when one side of the body is larger than the other); an elevated risk of developing several types of cancerous and noncancerous tumors, especially during childhood; and persistent low blood sugar.
“At that point, I was caught off guard,” Olivia says. “We went to a genetic counselor who said there was a chance she would have Beckwith-Wiedemann. It gave us time to prepare.”
When Leila was born on Dec. 27, 2009, in the HealthPark Medical Center in Fort Myers, FL, doctors placed her in the NICU at the co-located Golisano Children’s Hospital for breathing support, fearful her large tongue could block her airway.
“I remember them telling me her blood sugar was so low it was unrecordable,” Olivia says. “They gave her dextrose right away and checked her constantly.”
Going to Philadelphia
After five weeks of up and down glucose numbers, Asjad Khan, MD, Leila’s pediatric endocrinologist, told her family he had done all he could, but he knew the place that would help Leila’s hypoglycemia: the Congenital Hyperinsulinism Center at The Children’s Hospital of Philadelphia.
“‘You’re going to Philadelphia,’ he told us,” Olivia says. “He had done the research and felt CHOP was best for Leila.”
“We got to Philadelphia, and the HI Center welcomed us with open arms,” Olivia says.
After three weeks, Leila’s blood sugar was under control with continuous dextrose through a gastrostomy tube and injections of octreotide every eight hours. She also suffered from a rare BWS complication — pulmonary hypertension — which was medically managed.
“The HI team encouraged me to continue to give her breast milk through the g-tube,” Olivia says. “It helped me still be a mom. It was the one thing only I could do.”
After five weeks at CHOP, the Lefko family went home to Florida — with the g-tube and feeding pump, and the skills to give Leila her shots.
Follow-up studies on Leila's changing condition
Knowing that patients with BWS and HI often outgrow their HI, CHOP endocrinologist Andrew Palladino, MD, arranged for Leila to return for a fasting study when she was 7 months old. At that time, he was able to eliminate the octreotide and reduce the dextrose to nights — 8 p.m. to 8 a.m.
“The timing was perfect,” Olivia says, “since she was just starting to crawl and I was wondering how it was going to work if she had to wear her pump in a little backpack.”
A year later, another fasting study at CHOP showed the dextrose was no longer needed. Leila’s blood sugars could be managed by diet alone. Now she can go seven to nine hours before she needs to eat.
The hemihyperplasia from BWS is mild. Her right side is enlarged, but so slightly that it’s not noticeable. The right side of her tongue is still larger, but it no longer protrudes and it doesn’t interfere with her speech. Her heart has returned to normal, so she’s off the pulmonary hypertension medication.
Normal little girl
Now 4, she’s hitting her developmental milestones at the same time or earlier than her peers.
“As the years have progressed, her issues have pretty much resolved. She’s a normal little girl who likes singing, dancing and using her imagination,” says Olivia. “I so appreciate everything the HI Center did for Leila, and for all of us.”
Originally posted: April 2014