Beckwith-Wiedemann Syndrome and Cancer: Finn’s Story

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Finn’s breakthrough came on Sept. 4, the day the 4-month-old was well enough to leave the hospital for the first time. Once home, he was greeted by his 18-month-old brother Travis who kept yelling, “Finny’s home! Finny’s home!” In that moment — with their entire family finally under one roof — Finn’s parents appreciated how lucky they really were. Their son had beaten the odds.

Finn Before that day, Finn had spent all of his young life at Children’s Hospital of Philadelphia (CHOP). He’d been diagnosed at birth with Beckwith-Wiedemann syndrome, a complex genetic disorder characterized by overgrowth, and needed complex monitoring, care and treatment before, during and after birth.

A multidisciplinary team of clinicians worked together to address the many complications of his condition. Finn had survived heart surgery, abdominal surgery, liver cancer and chemotherapy.

“He was a little champ through it all,” says Finn’s mom, Megan. “I don’t know if he would have made it if we weren’t at CHOP.”

Prenatal diagnosis

The first sign of trouble came at Megan’s 12-week prenatal ultrasound. Her local doctor suspected the still-developing baby had omphalocele, a rare abdominal wall defect in which abdominal organs protrude through a hole in the abdomen into the base of the umbilical cord and are covered by a clear, thin sac.

Megan was referred to the Center for Fetal Diagnosis & Treatment at Children’s Hospital for further evaluation. After imaging and genetics tests, doctors at CHOP confirmed the diagnosis, but also discovered additional medical issues.

The baby had a heart defect, which would require treatment soon after birth, and was measuring very large for its gestational age — a signal the baby could have Beckwith-Wiedemann syndrome (BWS), a rare genetic condition that affects about 1 in every 10,500 births.

Finn’s parents had never heard of BWS, which can cause defects in the abdominal wall (like omphalocele), an enlarged tongue, low blood sugar, enlarged organs (such as the kidneys, liver and pancreas), and is linked to an increased risk of developing cancer during childhood.

Though scared, Megan and Travis knew their unborn child was in good hands at Children’s Hospital. CHOP has been nationally recognized in every pediatric specialty and provides coordinated care for children with complex conditions like Beckwith-Wiedemann syndrome.

Megan and her baby were monitored closely throughout the rest of the pregnancy. When Megan’s water broke at 34 weeks of gestation, she came to the Special Delivery Unit at CHOP as planned. There, Finn would have immediate access to expert pediatric medical care while Megan could stay close by during her recovery.

Welcome Finn

On the afternoon of May 2, 2015, Finn was born via cesarean section. Though he was six weeks early, Finn weighed more than 8 ½ pounds. A team of specialists immediately assessed Finn, and Jennifer Kalish, MD, PhD, diagnosed him with Beckwith-Wiedemann syndrome. He had many of the characteristic symptoms: large birth weight, an enlarged tongue, hypoglycemia, omphalocele and hernia, as well a likely unrelated heart condition, pulmonary stenosis.

Because of Finn’s complex and serious medical issues, he was transferred to the Newborn/Infant Intensive Care Unit at CHOP. Two days later, he had heart surgery.

For the next eight weeks, a team of clinicians worked to stabilize Finn’s condition enough that he could go home. Finn’s treatment for omphalocele, hernia and enlarged tongue was planned to be completed in stages.

Cancer diagnosis

By early July, Finn’s condition had improved and he was scheduled to be discharged from the Hospital. However, plans quickly changed when a tumor screening ultrasound of Finn’s abdomen showed a “spot” on his liver.

Oncologists reviewed the images, then ordered an MRI and a biopsy to confirm the findings. The results were conclusive: Finn had hepatoblastoma, liver cancer.

Though stunned by the news, his parents quickly rallied. “We switched into ‘go mode,’” says Megan. “What do we do? What’s the next step?”

Though serious, hepatoblastoma is one of the most treatable forms of cancer in children. Doctors said Finn would need surgery to remove the tumor, a procedure called a partial lobectomy where a portion of the liver would be removed, and chemotherapy afterward.

With the sudden change in Finn’s condition, his entire medical team gathered to re-evaluate his treatment plan. They decided to repair Finn’s omphalocele and hernia at the same time as his liver surgery. By combining the abdominal surgeries, clinicians could avoid the need for multiple rounds of anesthesia on a child so young.

On July 9, Pediatric Surgeon Peter Mattei, MD, FACS, FAAP, removed Finn’s liver tumor, closed the omphalocele, and repaired two hernias. Post-surgical imaging confirmed the success of all procedures, and 10 days later Finn began his first of two rounds of chemotherapy.

Finn completed chemotherapy on Aug. 26, and remained in the Hospital for another week to be monitored. On Sept. 4, Finn was finally allowed to go home.

“That’s when he saw the outside world for the first time,” Megan recalls. “He was so amazed. To this day, he still loves the outside; he'll stand by the window and look out for hours.”

Continuing care at home

Finn with his hearing aid Since returning home, Finn continues to receive ongoing monitoring and care from CHOP oncologists, geneticists, endocrinologists, audiologists, and other specialists at CHOP Primary Care, Indian Valley; CHOP Specialty Care & Surgery Center in Bucks County; and CHOP’s Main Campus.

In February 2016, Finn received hearing aids to address the partial hearing loss he sustained as a side effect of one of the chemotherapy mediations. When Finn was a year old, Plastic Surgeon Jesse A. Taylor, MD, performed tongue reduction surgery on Finn to address lingering airway issues the boy was experiencing. And when Finn was about 18 months old, he had another surgery — this time with Ian N. Jacobs, MD, a Pediatric Airway Surgeon — to remove cysts from his airway.

Finn has also benefitted from physical and occupational therapy, speech therapy and feeding support to help him reach developmental milestones. Regular monitoring through the Cancer Predisposition Program and Genetics, including blood work and imaging tests, also help ensure Finn’s cancer has not returned and that his overall health is improving.

“We’re years out from Finn’s cancer diagnosis and there is no evidence of disease,” says Megan. “We’re very lucky. He’s doing so well now. I could never move away from here; CHOP is our safe haven. We are so grateful to everyone who took such wonderful care of Finn. We will always hold a very special place in our hearts for everyone who took care of our little boy and gave us so much hope.”