Concert Supports Research On Syndrome

April 26, 2009|By Kellie Woodhouse | Kellie Woodhouse,

A large, port wine colored birthmark covers half of Jenna Heck's face, stretching above her right brow to the corner of her mouth. Bimonthly laser treatments have lightened the mark, but it continues to turn heads at the grocery store and incite whispers from her fellow preschoolers.

Her mother, Ida Heck, uses every pause in conversation, each raised eyebrow, all the small, accidental gasps to educate those who don't know about Jenna's condition: Sturge-Weber syndrome.

"Every time you go somewhere they say, 'Oh, what's wrong with her?'... I've had people come up to me and say, 'Oh my gosh, you let her get sunburned.' It's hard at times," Heck says. "I hope I've taught Jenna when people stare or make comments to be able to overcome that and to answer very confidently, 'Well this is what I have. I was born with it.' "

After her birth four years ago, Jenna's birthmark was easily visible, but was misdiagnosed by the delivery doctor as a bruise. When she was two weeks old, Jenna underwent a magnetic resonance imaging test, but the signs of Sturge-Weber syndrome were missed. Eventually, Jenna was diagnosed at seven months, and Ida Heck and her husband, Ed, became increasingly aware of the profound lack of knowledge about the disease.

Most pediatricians don't know it exists, and others have only an elementary understanding of how it affects carriers, according to neuroscientist Anne Comi, lead researcher at Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute in Baltimore.

One child in 20,000 is born with the disease, Comi says, and the most practiced experts remain unaware of what causes the syndrome, for which there is no known cure. There are only a few hot-spots for treatment and research: Boston, New York, Los Angeles and Baltimore.

Because of the rarity of the disease, research receives little funding from drug companies, which usually do not invest in small markets, Comi says. Thus, Sturge-Weber research relies heavily on private funding.

"Autism and leukemia, that gets money," Heck says. "There's a lot of kids out there with that, and I understand why it does [receive research funding], but Sturge-Weber syndrome does not. It is not even known to the majority of the people out there."

"I don't want [Jenna] to be forgotten because she doesn't have one of the 'big ones,' " Heck says. "Everybody needs to have equal access to research."

Children with Sturge-Weber syndrome have abnormal blood vessels on one side of their faces, which is evidenced by a long, red 'stain.' Blood cells are very concentrated, putting pressure on the brain and eye. Victims develop a wide range of symptoms, such as seizures, chronic weakness, vision problems and learning disabilities.

After Jenna's diagnosis, the Heck family began the Bands on the Bay fundraiser, an annual concert, auction and barbeque dinner that features Annapolis-area bands and prominent athletes. During the event's first year (2006), $140,000 was raised. Since then, Bands on the Bay has raised over $500,000, supporting more than 75 percent of Kennedy Krieger's Sturge-Weber research, Comi says. The center primarily uses the aid to fund studies on what causes the syndrome, treatment optimization and improving early diagnosis.

"We've gotten to know how much the Sturge-Weber center relies on private funding, and how important it is for groups like ourselves to raise money so research can go on," says Al DeCesaris, Ida Heck's brother and one of the event's organizers. "We realize that this is bigger than just one case. The work that the center is doing is really helping to improve the lives of many children."

The center has treated 164 children since its inception in 2002.

Eventually, the visual mark of Jenna's illness will fade with the help of laser treatments and makeup, but the physical ailments will continue or worsen until researchers find an answer, Comi says. The search for a cure, doctors have said, is only as efficient as the money backing it.

This year's Bands on the Bay fundraiser is 1 p.m. to 6 p.m. Sunday at Herrington on the Bay in Friendship, in southern Anne Arundel County. The Doug Segree Band and Orlando Phillips, the former lead vocalist of the Caribbean music group Mama Jama, will be featured. Tickets are $100 at the door. .

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