Brynlee Knox – Beckwith-Wiedemann Syndrome

Brynlee Knox

“Brynlee has gone through quite a bit in just her first year of life,” says Bethany Knox of her now 16-month-old daughter whose favorite things include The Greatest Showman soundtrack, her swing and trampoline, and her older brother, Billy.

Her story begins in October of 2020 in Pittsburgh when Brynlee was born six weeks premature. Upon birth, doctors discovered that she had an intestinal obstruction and observed that she had an enlarged tongue. She was immediately transferred to UPMC Children’s Hospital of Pittsburgh where a team of doctors led by Dr. Kelly Austin, pediatric general surgeon and director of the Colorectal Center at UPMC Children’s, performed emergency intestinal surgery.

The surgery was successful in removing the intestinal blockage and Brynlee and her family spent the next few weeks in Children’s Neonatal Intensive Care Unit (NICU) while she recovered.

“As challenging as that time was, we had a phenomenal experience with Children’s NICU,” said Bethany. “It’s so hard to see your child hooked up to so many machines but everyone took amazing care of her.”

As Brynlee continued to grow and gain strength in the NICU, her doctors and parents kept an eye on her enlarged tongue, unsure at that point of the underlying cause. But after 19 days, with one major obstacle overcome, Brynlee was discharged and went home with her family to their home in Bethel Park just outside of Pittsburgh.

A Suspected Diagnosis, Confirmed by Testing

At home, as Brynlee’s enlarged tongue continued to give her difficulties, Bethany took to researching possible causes and diagnoses related to enlarged tongues. During her pregnancy she had had one ultrasound where her doctor had noted that the baby’s nasal bone was “not well visualized” – something that can often be associated with Down syndrome. However, she had some tests run during her pregnancy that had ruled out that particular diagnosis.

One day during her research, Bethany came upon information about Beckwith-Wiedemann syndrome (BWS) and decided to take this information to her pediatrician, Dr. Eric Friedlander at UPMC Children's Community Pediatrics.

BWS is a genetic disorder affecting Chromosome 11 that is typically characterized by overgrowth. BWS occurs in approximately 1 in 11,000 births, with about equal incidence in boys and girls. Affected children also have an increased risk to develop tumors. Although the clinical presentation of BWS is highly variable, one of the more common symptoms observed in infants at birth is macroglossia, or an abnormally large tongue.

Dr. Friedlander agreed with Bethany’s suspicion and recommended genetic testing.

“He did extensive research to ensure that Brynlee was receiving the best care,” says Bethany. “He remains very active in Brynlee's doctors and care today. He is the one who set us in the right direction initially and we are so thankful that he understood our concerns. We might not be as far along with her care today if it wasn't for him.”

This led the family to Dr. Suneeta Madan-Khetarpal, clinical geneticist at UPMC Children’s, who was able to give the initial diagnosis of BWS, confirmed by genetic and blood testing.

From there, Brynlee and her family were sent to many different specialists at Children’s to ensure that she was receiving well-rounded care for her conditions. She visited with pediatric cardiologists to monitor a patent foramen ovale (PFO) in her heart that hadn’t closed yet and pediatric gastroenterologists to monitor her development post-surgery. Altogether, Brynlee sees 11 different specialists for her care.

“We’re lucky to have such an amazing hospital in our backyard,” says Bethany. “A lot of children travel much farther for quality care. With the frequency that we must have appointments and routine scans, it's nice to be so close.”

In addition to visiting UPMC Children’s main hospital location in Lawrenceville, the family has also been able to take advantage of scheduling appointments at Children’s locations even closer to their home such as UPMC Children’s South. Because of her increased risk of developing childhood cancer, Brynlee has preventive scans every three months. And that is just one specialist appointment, so the family appreciates the convenience.

Life-Changing Surgery

Brynlee Lee before and after tongue reduction surgeryBrynlee’s enlarged tongue caused problems for her sleeping, eating, and breathing, leading to a diagnosis of persistent obstructive sleep apnea (OSA). OSA can have detrimental effects on health and also significantly increases the risk of sudden death in infants. She also couldn’t eat more than purees due to the size of her tongue and it also prevented her from expressing herself verbally as many at that age begin to do. That was when the family and their care team decided that a reduction glossectomy or tongue reduction surgery would improve immediate feeding and breathing concerns as well as avoid potential speech development and structural jaw issues in the future.

“There was also the cosmetic aspect, obviously,” says Bethany. “Everywhere we went people were always pointing it out or commenting about how she was always sticking her tongue out, all the while we would be thinking about how much trouble it was causing for her.”

In January of 2022, Dr. Jesse Goldstein, pediatric plastic surgeon at Children’s, performed Brynlee’s tongue reduction surgery. The surgery was successful, and Brynlee spent just a few days in the Pediatric Intensive Care Unit (PICU) afterwards recovering.

“The recovery process was a bit traumatic for everyone,” says Bethany. “But within three to five days she was back to her normal self. We are so thankful to have had such an amazing and experienced surgeon. I want to give a huge shout out to the nurses that we had during our stay in the PICU and from 6B -- Alyc, Tori, Leah, Carolyn, Sam, and Alicia. Tongue reduction isn’t a very common surgery, and each of these ladies were caring, knowledgeable, and professional while caring for our daughter.”

Today, Brynlee is over seven weeks out from her surgery. She’s doing great and back to being the happy, social little girl she has always been, but without some of the difficulties her tongue had given her before.

“It’s been so wonderful to see her be able to eat normally now and she is babbling more – things she wasn’t able to do before” says Bethany. “The surgery was literally life-changing for her. Now she can breathe better and sleep better. We’re so thankful for the care she’s received at Children’s Hospital of Pittsburgh.”

Plastic Surgery Resources

Read more about plastic surgery resources from UPMC Children's Hospital Department of Plastic Surgery.

Contact Us

UPMC Children's Hospital of Pittsburgh sees children with Beckwith-Wiedemann syndrome in our Pediatric Cancer Predisposition Program. Call 412-692-5055 to learn more and to make an appointment.