Matthew Perry: A friend to kids with Williams syndrome
By John Morgan, Spotlight Health, with medical adviser Stephen A. Shoop, M.D.
It is said that a true friend is one who is there for you not just when things are going smoothly but in times of despair and trouble. A true friend stands by you through thick and thin and goes the whole nine yards.
If these qualities define true friendship, then Matthew Perry is the Lili Claire Foundation's best friend.
"The Lili Claire Foundation is a godsend to children, parents and families who are dealing with the challenges and heartaches that accompany neurogenetic birth defects like Williams syndrome," says Perry, who has been the organization's celebrity spokesperson since its founding five years ago. "So it's easy to show up and raise money and awareness to help get these kids proper medical care and schooling. I wouldn't miss this event for the world."
And true to his word, last weekend Perry was again at the podium hosting Lili Claire's fifth annual fundraiser.
The foundation was created by Keith and Leslie Resnick after their 5 ½ month-old daughter Lili Claire died from complications due to Williams syndrome, a rare congenital disorder that causes serious physical problems and moderate to severe retardation.
For Perry and many of the stars in attendance, the Lili Claire event is a profoundly personal, almost family gathering.
"Children with Williams syndrome are magical kids who really touch your heart the moment you meet them," says Perry. "Lili Claire's tragedy touched me deeply."
"Leslie is our casting director," explains Friends executive producer Marta Kaufman. "Losing this beautiful child devastated everyone. I'd never experienced the death of a baby before so I'm in awe of how Keith and Leslie transformed this horrible tragedy into this glorious event."
Attending the event were such friends and supporters as Jennifer Aniston, Lisa Kudrow, Emmy-winners Allison Janney and Michael Chiklis, Adam Beach of Windtalkers, and NYPD Blue's Charlotte Ross.
CSI's Marg Helgenberger presented the Spirit of Leadership Award to Mimi Leder, director of Pay it Forward and China Beach. "My sister helped create this organization with Keith and Leslie so it's both an honor and a joy to be included tonight," says Leder. "Lili Claire helps not just those with Williams but also people with autism and Down syndrome."
Williams syndrome is a neurogenetic disorder that afflicts roughly one in 20,000 births, affects males and females equally, and occurs in all ethnic groups.
Looking at the smiling, happy kids with Williams syndrome, it is hard to reconcile that the condition, caused by 20 or so missing genes on chromosome seven, can be seriously debilitating and in some cases deadly.
In fact, adding to the confounding nature of the disease, children with Williams syndrome are sometimes diagnosed late because of their often advanced social and verbal skills which are likened to a "cocktail party personality."
"It's a bit patronizing to describe all Williams syndrome patients with this expectation," says Stephen Cederbaum, a genetics expert in the Department of Pediatrics at UCLA. "Williams syndrome has such a broad spectrum of both symptoms and degrees of affliction. Some children are not very social. And for many, the retardation is not so mild."
Among the many symptoms is often an extraordinary affinity for and ability to sing or play music. Approximately 20% are gifted with perfect pitch.
Cederbaum again places this in perspective. "Yes, you have children who can memorize and recite hundreds of songs but who also can't add two plus two or tie their own shoelaces."
According to Cederbaum other general symptoms can be:
- Unusual or prominent facial features – sometimes described as "elfin"
- Learning difficulties
- Diminished IQ – "ranging from low to near normal"
- Cardiac abnormalities
- Attention deficit disorders and anxiety disorders
- Poorly defined motor skills – often later in life
"If parents feel something is amiss with their child, a good pediatrician should be able to address their concerns and certainly make a referral to a specialist like myself," advises Cederbaum. "You shouldn't necessarily expect a pediatrician to diagnose your child with Williams syndrome because it is a rare disease."
But thanks to funding provided by the Lili Claire foundation, there is now a resource center at UCLA where families can get definitive answers and treatment.
Clinical diagnosis of Williams syndrome is confirmed by employing a chromosomal study. This allows doctors to identify and commence treatment much earlier – which can be especially important for infants and toddlers with the serious heart conditions that often accompany Williams syndrome.
It was during open heart surgery to correct such a condition – supra-valvular aortic stenosis — when the Resnick's lost Lili Claire.
Because of the chromosome defect, the majority of those with Williams syndrome have heart problems caused by the diminishment of elastin. Elastin is the material that gives arteries and blood vessels their flexibility. Without elastin, blood flow can become restricted similar to hardening of the arteries.
"The heart involvement can range from a very benign tiny obstruction to severe where the obstruction is incompatible with life," reports Sean Levchuck, a pediatric cardiologist at St. Francis Hospital in Roslyn, New York. "As such, we base our intervention on the degree of severity."
Levchuck indicates that an echocardiogram is the easiest, safest non-invasive method to examine Williams syndrome patients. "Echocardiogram provides a good road map," says Levchuck. "If there's an index of suspicion for intervention, then we use an angiogram."
While surgery on young children is risky, Levchuck says cases like Lili Claire's are the exception rather than the rule. More often Williams patients have pulmonary, not aortic, involvement which typically carries less surgical risk.
"In 13 years only one child has died of cardiac complications due to Williams syndrome," says Levchuck. "Once provided surgery there is an excellent post-operative prognosis. In fact, cardiac issues go from the front burner to the back burner and are outweighed by neuromuscular issues later in life."
As part of his contribution to Lili Claire, Levchuck volunteers his services to perform the life-saving operations as well as actively reviews medical charts to select patients from the international community.
"We get these children over here and take care of everything," reports Levchuck. "It's all done completely for free – we even get the hospitals to donate everything. What medical professional would not want to be a part of such a program?"
Clearly, Perry enjoys being a part of Lili Claire.
"The money raised tonight will save lives and for those people who have managed to survive the disease it can help improve the quality of their lives," says Perry. "Tonight we get to help people get expensive surgeries they couldn't afford. And what better way is there to spend your money?"
Along with his genuine philanthropy and commitment to helping, Perry says the kids with Williams syndrome keep him grounded – especially one named Kirsten.
"It's always good for my ego to run into Kirsten," jokes Perry. "Our eyes met and she made a beeline to see me. I walked up to her and said, 'That's such a beautiful red dress you're wearing,' and 'It's so great to see you. How have you been?' And she said, 'Good. Where's Joey?"