Penn and CHOP open a center for a rare genetic condition, thanks to a $25 million donation

Michael Armellino first heard of Williams syndrome when his partner’s granddaughter, Maelyn, was born with the rare genetic condition 10 years ago. A simple internet search laid out that she could be at risk of heart disease and almost certainly would have developmental delays.

But it didn’t prepare him for meeting her.

Maelyn’s big smiles and effusive “I love you’s” — a hallmark of Williams syndrome is an exceptionally friendly and social personality — have charmed him.

“Whenever I see her, she brightens my day,” said Armellino, a retired Goldman Sachs executive living in New Jersey who graduated from Penn’s Wharton School.

He wanted everyone with Williams syndrome to have the same access to healthcare as Maelyn, who lives in New Jersey and has traveled to see specialists in Louisville, Ky., Boston, and Philadelphia throughout her life.

So he donated $25 million to found a center in Philadelphia dedicated to treating and studying the condition.

The Armellino Center of Excellence for Williams Syndrome has been seeing patients for the last year and moved into its permanent location in the Hospital of the University of Pennsylvania at the start of this summer.

A collaboration between the Children’s Hospital of Philadelphia and Penn Medicine, the center is designed as a one-stop shop where both children and adults can see providers for the full constellation of symptoms associated with their condition.

It’s often difficult to find specialists who are knowledgeable about the syndrome, which is so rare it affects only 20,000 to 30,000 people in the U.S. The new center has recruited top national experts on Williams syndrome — from Alaska to Kentucky — to come to Philadelphia with expertise and passion to treat the syndrome and the people it affects.

“It’s just trying to bring together as many experts as we can on a condition that’s been overlooked for the most part, and make it easier for families to get treatment,” Armellino said.

Almost all of your genes, the genetic blueprints for life, come in pairs. One copy comes from your mother and the other from your father.

In Williams syndrome, however, a whole chunk of genetic material is wiped out, leaving almost 30 genes without a second copy. This can cause a host of physical and cognitive symptoms, including a life-threatening form of cardiovascular disease.

One of the genes missing a copy is the elastin gene, which normally instructs your body to produce a “stretchy” protein that acts much like a rubber band. The protein makes your blood vessels stretchy enough to expand when blood is pushed through and snap back to squeeze the blood along.

Losing a copy of the gene means having way less of this protein, explained Jocelyn Krebs, the center’s newly appointed director.

“So all of their blood vessels are really stiff and narrow,” Krebs said.

This can disrupt blood flow to the organs in some cases, and put patients at risk of sudden death.

People with Williams syndrome typically experience mild to moderate intellectual impairments and delays in meeting developmental milestones such as crawling and talking. The condition is also known to cause a distinctive facial appearance — characterized by a small chin, broad forehead, puffiness around the eyes, and a small, upturned nose with a flat bridge — and an unusually outgoing, friendly personality.

“People with Williams syndrome have an incredibly strong social drive and sort of zero inhibition, like stranger danger is not a concept they get,” Krebs said.

Anxiety disorders, gastrointestinal issues, and endocrine problems are also common.

The center has specialists to address all these symptoms, and offers half-day sessions where patients can be seen by a whole suite of doctors in one visit.

For many families, it’s the first time having access to all the care their child needs in one place.

A woman who attended a ribbon-cutting ceremony on June 3 told Armellino she was moving her entire family from Chicago to Philadelphia just so her child with Williams syndrome could be closer to the center.

The mission is personal to the center’s director, Krebs, who after several years of studying one of the genes deleted in Williams syndrome as a researcher at the University of Alaska Anchorage, coincidentally had a son with the condition.

When she lived in Alaska, most of her son’s doctors had never even seen a patient with Williams syndrome.

“I was having the experience that many parents of children with rare syndromes do, which is that the parents are the experts, and they’re bringing the information to their provider,” said Krebs, who served as president of the Board of Trustees for the Williams Syndrome Association, a parent advocacy group.

The first time her son went to a Williams syndrome specialty clinic was at this center.

The biggest question Matthew Demczko, a pediatrician at the center, gets from parents is, “What’s the future going to be like for my child?”

Parents wonder if their child will ever hold a job or be able to live independently.

“There’s so much uncertainty, and I’m sure fear and anxiety,” he said.

Demczko tells them that it’s hard to predict, but that his team will provide support “in whatever capacity a patient might need as they go through life.”

The center uniquely focuses on patients across the lifespan: It offers an adult-focused clinic and transition-to-adulthood programs that give patients the tools to be more independent.

Carolyn Mervis, a psychologist from the University of Louisville in Kentucky who specializes in Williams syndrome, was hired to research the development of adaptive skills in patients. These are skills needed for daily, independent living, such as reading a bus schedule.

Very few adults with Williams syndrome live completely independently, Krebs said. But many can hold jobs and live in a group home or with a family member.

“We’re getting better and better at recognizing the supports people need to get there,” Krebs said.

Armellino is not sure what to expect for Maelyn’s future.

For now, the family is seeing if the 10-year-old can improve her reading ability. This would be a step to her finding work that is rewarding and fulfilling, he hopes.

Music makes her happy, especially country and western music.

“What we’re trying to do is give her as much opportunity to be everything she can be,” Armellino said.