Girl from Havana with rare disorder to have plastic surgery here

Submitted without commentary...

By Michele Munz
ST. LOUIS POST-DISPATCH
02/14/2006

Ana Hernadez [sic] helps break pieces of bread for her daughter Gabriela, 2, to eat for lunch.
(LAURIE SKRIVAN/P-D)

Gabriela's grandmother wouldn't give up. Why should her doll-eyed grandbaby in Havana live with a deformity?

The grandmother, Grisel Gonzalez, lives in a Miami suburb and reads about medical miracles all the time, in cases much worse than Gabriela's. So she pushed, called and negotiated for months, looking for a way to fix her granddaughter's enlarged tongue.

Her persistence will pay off today. Gabriela is in St. Louis for surgery at St. John's Mercy Medical Center with a pediatric plastic surgeon, Dr. Jeffrey L. Marsh, known worldwide for treating her disease.

Gabriela Hernandez, now 2, was diagnosed with Beckwith-Wiedemann Syndrome when she was born with an enlarged tongue and umbilical hernia, the most common symptoms of the rare disorder.

Cuban doctors told her mother, Anna Hernandez, that they couldn't do anything for the girl until she was 12. The grandmother refused to believe it.

"Why should we wait until she was 12 years old?" Gonzalez, who traveled to St. Louis with her daughter and Gabriela, said Tuesday through an interpreter. "I was going to try to do something right away."

She took her granddaughter's photo to hospitals in Miami. They referred her to the International Kids Fund. That organization sent her to the Beckwith-Wiedemann Children's Foundation, based near Seattle.

Over the next 18 months of calls and negotiations, the foundation helped make the dream of surgery for Gabriela come true.

It secured a six-month medical visa for her. It landed donated airline tickets. The St. John's Mercy Foundation is paying for a room at Haven House in Creve Coeur, which provides lodging and support services for out-of-town families in area hospitals at a low cost. The hospital and Marsh are donating their services.

"That's what medicine is all about," Marsh said.

Marsh has performed 170 tongue-reduction surgeries on children with Beckwith-Wiedemann Syndrome - more than any other doctor. Gabriela's surgery is the second one he'll do for free.

"For someone to have absolutely nothing is really pretty rare," he said. Gabriela "is here because her grandmother lives in the States and can advocate for her."

Marsh, 59, began doing more tongue-reduction surgeries around 1997, after being sought by oncologist Dr. Michael DeBaun at St. Louis Children's Hospital. DeBaun had started a registry of children with Beckwith-Wiedemann because they have a 6 to 8 percent chance of developing cancer. Most - 80 percent - develop an enlarged tongue. That's where Marsh agreed to step in.

Marsh helped build the pediatric plastic surgery program at Children's Hospital and was medical director of the Cleft Palate and Craniofacial Deformities Institute at the Washington University School of Medicine.

As Marsh started doing more tongue-reduction surgeries, his name spread beyond St. Louis. The Beckwith-Wiedemann Children's Foundation works closely with him. His name pops up on Internet searches and in chat rooms of parents with sick children.

Gone untreated, the disease causes deformity of the teeth and jaws, requiring surgery in the late teen years. It also causes another kind of hurt: being a target of laughter.

If all goes well today, Gabriela can leave the hospital in about a week. She'll learn to talk better. She'll eat her food without having it cut into tiny pieces. She won't drool. She won't have people laughing or staring at her.

She'll go home to her father, who works on a boat dock, and her 10-year-old brother.

Her mother explained through an interpreter Tuesday that she is a little scared but believes the surgery is the right thing to do. And she's hopeful everything will turn out fine.

Besides, Gabriela, sitting at her mother's feet trying to tie her shoes at the Haven House, shares a trait with her grandmother.

"She's very determined," her mother said.


Beckwith-Wiedemann Syndrome

A birth defect named after the physicians who first noted similar characteristics in their patients in the early 1960s.

Appears in about 1 in 15,000 births worldwide.

Main symptoms include an enlarged body, failure of the abdominal wall to close, enlarged tongue and low blood sugar.

Patients have an increased risk of developing certain types of cancer, mainly abdominal. Screening for cancer is recommended every three months, until the age of 8.

For more information, go to www.beckwith-wiedemann.org.