When Ari’s parents learned during pregnancy that something might be wrong, they entered a world of uncertainty. After Ari was born, they found Children’s Hospital of Philadelphia (CHOP). As CHOP set their family on a path of expert, coordinated care that continues today, their worry transformed into hope.

When Ari’s mother, Ricky, underwent prenatal imaging near their home in Ohio, it revealed what appeared to be an omphalocele, a rare birth defect in which abdominal organs develop outside the body. The doctors knew the finding could be associated with Beckwith-Wiedemann spectrum (BWSp), a genetic overgrowth condition, or another genetic disorder altogether.

The waiting and the uncertainty were difficult.

“It was devastating in the sense that when we were waiting, it could have been anything,” Ari’s father, Mike, says. “There wasn't a whole lot we could do. We prayed a lot that he would be safe.”

Ricky remembers that time similarly. “I was very nervous, very worried,” she says. “They didn't give us a lot of answers. We had to prepare for all the possibilities.”

Despite the uncertainty, both parents remained determined. “My preparation was more mental and emotional,” Mike says. “We knew that whatever came our way, we would handle it.”

“I knew this baby was going to be really strong,” Ricky adds.

Searching for answers

When Ari was born, he was immediately transferred to their local children’s hospital, where surgeons repaired his omphalocele. The family is forever grateful and praises the care that Ari received at that hospital immediately after birth.

Ari was confirmed to have BWSp. “Once he was born, I thought, ‘This is real,’” Mike recalls. 

BWSp is caused by changes in genes that control body growth. A child with the condition can have overgrowth of one side or one part of the body, an enlarged tongue, enlarged organs and low blood sugar. It also causes an increased risk of developing certain cancers during childhood, usually kidney or liver tumors. Few children have all the characteristics. Because the condition can affect children in a variety of ways, what was once called Beckwith-Wiedemann syndrome is now referred to as Beckwith-Wiedemann spectrum. 

Mike’s father dove into researching the condition, eventually discovering CHOP and Jennifer Kalish, MD, PhD, a pediatric geneticist who leads the Beckwith-Wiedemann Syndrome Clinic at CHOP. As the only truly comprehensive BWSp clinic in the world, CHOP has the most expertise in treating children with the condition. The team has developed BWSp care guidelines that clinicians everywhere follow.

“My dad found that Dr. Kalish was the world’s foremost leader in Beckwith-Wiedemann research,” Mike explains.

The family’s next step was connecting with Evan Hathaway, MS, LCGC, a genetic counselor at CHOP’s BWSp Clinic.

“When we talked to Evan, that changed the game for me emotionally,” Mike says. “Once I spoke to him, I knew we had found the experts on BWSp, and that level of assurance gave us a solid plan. Evan could answer every single question we had. It changed the trajectory of my thought process."

Ricky felt the same reassurance: “Once we looked into CHOP and talked to Evan, we knew this is where they know the most about it.”

A multidisciplinary approach

When Ari was 5 months old, the family made the trip to Philadelphia to establish care with CHOP’s BWSp Clinic.

“When we met Evan and Dr. Kalish in person, we knew we were going to make CHOP the primary hub for Ari’s care, and our local children’s hospital would be the support,” Mike says.

For the family, one of the biggest advantages was the clinic’s coordinated approach. “When we were headed to CHOP, we didn’t even know what specialists Ari needed to see,” Ricky says. “At CHOP, they had it all in place for us.”

“At CHOP, you meet physicians and advanced practice providers who have cared for hundreds of children with Beckwith-Wiedemann,” Mike says.

Ari’s main BWSp features included an enlarged tongue and overgrowth on his right side where his limbs were longer than those on the left. During the family’s regular visits to CHOP, Ari has been cared for by multiple specialists, including teams in genetics, plastic surgery and orthopedics.

Because children with BWSp have an increased risk of developing certain childhood cancers, Ari is also monitored through CHOP’s Cancer Predisposition Program. The program provides specialized screening and coordinated care for children with conditions that make them predisposed to develop cancer. With regular screenings, cancerous tumors can be caught early. Ari has not developed any types of cancer.

Growing stronger

As Ari grew, the family continued to work closely with his CHOP care team to address challenges related to BWSp. At 19 months old, Ari underwent tongue-reduction surgery performed by Jesse Taylor, MD, Chief of the Division of Plastic, Reconstructive and Oral Surgery and CHOP’s Surgeon-in-Chief. Later, at age 4, Ari had his tonsils and adenoids removed.

Today, Ari's care is focused largely on his jaw development. He sees Hyun-Duck Nah, DMD, PhD, Director of Craniofacial Orthodontics at CHOP. Even from hundreds of miles away, CHOP remains closely connected to Ari’s care.

“Our orthodontist in Cincinnati works closely with Dr. Nah,” Ricky says. “They work side by side virtually to give Ari the best and most up-to-date care.”

The family now travels to CHOP only once a year. Per the guidelines developed by CHOP’s BWSp team, the visits will continue to become less frequent.

Embracing what makes him unique

Now 6 years old, Ari is thriving. “He loves animals and drawing. He’s a little sponge of information,” Ricky says. “He likes to be quizzed. He’s very curious.”

Mike describes a similarly energetic child. “Ari loves to draw. He loves animals and playing outside with his friends. He’s very outgoing and the life of the party.”

As Ari gets older, he's becoming more aware of the physical differences associated with BWSp. “Ari is now at the age that he notices his differences,” Mike says. “He asks, ‘Why are my legs different?’”

Mike and Ricky are grateful not only for the medical care Ari has received at CHOP, but also for the guidance they found during one of the most uncertain times of their lives. Both parents are inspired by how their son continues to approach life’s challenges. 

“He has overcome every obstacle,” Ricky says. “We get worried, but he just handles it. He makes it look easy.”