A small group of parents saw the need for greater research that would enable children with Prader-Willi syndrome to lead healthier, more fulfilling lives. More than a decade later, that small group has expanded to include hundreds of parents, as well as family members and researchers hoping to find a cure.
Neither Samantha Chipetz nor Rebecca Wolf McWilliams had ever heard of the disease that would turn their lives upside down — until their sons were diagnosed with Prader-Willi syndrome almost as soon as they left the womb.
Nothing’s ever been quite the same for them since.
Perhaps, if they can get the word out about a genetic disorder that has been around 60 years but essentially kept secret until recently, not only will their kids but others be able to live relatively normal lives. For now, though, for nearly 4-year-old Brandon Chorney and almost
6-year-old Kieran McWilliams, it’s anything but.
“It’s super rare,” said Chipetz, co-chair along with McWilliams for the April 9 Prader-Willi Live Life FULL Gala to be held at the Fillmore from 8 p.m. to midnight. “[It’s] not on anyone’s radar.
“One in 15,000 are diagnosed a year,” she added. “It’s a spectrum disorder that affects each area of development. Physically, there’s nothing they can do to stop the symptoms.”
Discovered in 1956 by Swiss doctors Andrea Prader and Heinrich Willi, few even knew about the condition until 2003, when the Foundation for Prader-Willi Research (FPWR) was established.
A small group of parents saw the need for greater research that would enable children with PWS to lead healthier, more fulfilling lives. More than a decade later, that small group has expanded to include hundreds of parents, as well as family members and researchers hoping to find a cure.
It can’t come soon enough for Chipetz and McWilliams, both of whom have had a child who does not have PWS since Brandon and Kieran were born.
“They don’t test for this, so it was not something we knew about,” Chipetz said. “The first thing they saw was he had a low muscle tone and wasn’t eating. He had no appetite. The doctor immediately knew something was wrong. They took him into a neonatal intensive care unit and put him on a feeding tube.”
It took a month before Chipetz and her husband, Dan Chorney, got the diagnosis, although it was already apparent that Brandon was not like most kids.
“They’re very weak because of the low muscle tone — just not moving,” she explained. “You lift up their arms, and they’re floppy. He was finally discharged without a feeding tube, so we took him home and started with a million specialists.”
Nearly four years later, there’s been only slight progress for a disorder that has no cure, but whose symptoms can be controlled to a degree by human growth hormones and other medications.
“Brandon didn’t walk until he was 2, and even then he’s unbalanced,” said Chipetz, who learned much more about this mysterious condition when she attended a PWS research conference in Philadelphia in 2012. “He’s not potty-trained, and he’s almost 4.
“He is talking, but he’s sometimes hard to understand,” she added. “His processing skills are delayed. He seems like a very happy kid, so I don’t know if he knows he’s different. I’m sure as he gets older he’ll find out, because things become harder then.”
That’s when Prader-Willi syndrome takes a nasty turn, which requires constant supervision. In an ironic twist, while babies diagnosed with PWS have no appetite and don’t want to eat, older children suddenly can’t eat enough. Worse, they can’t stop themselves from eating because they always feel hungry.
It’s called hyperphagia and, if not controlled, it can result in a person literally eating himself to death.
“One of the hallmark features is when kids get around 8 or 9 they develop an insatiable appetite,” explained Chipetz, who grew up the Andorra section of Philadelphia, but now lives in Montclair, N.J., where taking care of Brandon and his baby sister, Leah, is a full-time job. “They’re in a state of constant starvation, so you have to lock your fridge and your cabinets.
“Most people with PWS can’t live on their own, because they need constant monitoring around food. I’d never heard of this before in my life. My parents had never heard of it. No one in my circle had.”
Searching for others dealing with it, Chipetz hooked up with McWilliams through Facebook. They quickly discovered they had a lot in in common.
“We sort of feel we could’ve met independent of this,” said McWilliams, co-chair of the upcoming gala, which will feature an auction of donated prizes, a disc jockey and live entertainment with a Philly flavor. “We come from similar backgrounds with Jewish families. Her parents live about five minutes from me.
“Kieran and Brandon are almost like a snapshot,” she added. “It’s nice for the two of us to share that and nice for them.”
Since PWS has become better known, the FPWR has raised funds as well as awareness. Their first gala in New York raised more than $100,000. The next one — largely due to some wealthy benefactors — topped the $1 million mark.
This will be the first held in Philadelphia, although McWilliams has organized an annual walk three times. “One Small Step,” which has movements throughout the country, has raised more than $300,000. After growing up in Manhattan, where she became a Bat Mitzvah at Temple Emmanuel, she and her husband, Blair, moved here. Their son, Jackson, was born in 2007, followed by Kieran and now four-year-old Julian.
While it’s still early in the process, she said drug companies have taken notice of the attention PWS is getting, which could lead to them getting behind advanced medical research.
“Since Kieran was born, I’d say the research landscape has changed dramatically,” said McWilliams, who lives in Chestnut Hill. “There are more clinical trials and, because of the connection to obesity, a real interest in finding drugs. But those clinical trials require such intense funding.
“Hope of finding a cure grows daily — with the stories you hear, the people you meet through social media has changed things. These are young, motivated parents who want to get involved. It may well have been before that people with Prader-Willi were never diagnosed.”
Today, children are now getting diagnosed more quickly. They’re also able to take growth hormones — the only drug which has helped manage some of symptoms because it speeds up the metabolism. Studies show growth hormones add muscle mass and produces a cognitive benefit. There also have been tremendous gains in physical, occupational and speech therapy.
“They can’t cure the disorder yet, but it helps,” said McWilliams.
Money is needed for all that research, which is why they’ll be at the Fillmore Saturday for the gala, which will be more akin to a cocktail party, with hors d’oeuvres and food stations.
“We picked the Fillmore for it to be a fun, casual night out,” Chipetz said. “It fits both our personality and vibe. It’s given us a great sense of purpose to work hard and find a cure, but it’s a long road.”
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