Jennifer Gay hopes for the best for her daughter, Haleigh, who has a rare illness and a major heart defect. “I want her to be the best she can be,” the Martinez mother said. “I want everything for her future.”
Before Haleigh was born Aug. 30, 2010, Gay knew about her heart problems. But it wasn’t until her birth that doctors diagnosed the now 15-month-old with Smith-Lemli-Opitz syndrome, a rare genetic condition.
“It’s hard because there’s not another child in Augusta who has this,” Gay said of the syndrome that affects just one in more than 20,000 newborns. “It is a very rare thing.”
The Gays will share their story during the 11th annual 2011 Cares for Kids Radiothon. Radio stations 104.3 WBBQ and 96.3 KISS FM will broadcast live from the lobby of the Georgia Health Sciences Children’s Medical Center from 6 a.m. until 7 p.m. Thursday and Friday, and from 8 a.m. until 1 p.m. Saturday..
Dozens of stories like Haleigh’s will be featured during the weekend fundraiser.
“If we’re not in the hospital, we’re there a couple of times a week,” Gay said. “We’re down there all the time.”
Gay said Haleigh’s doctors and the staff of the medical center were extremely compassionate and made the stressful experience of dealing with a sick child much easier.
Because of the syndrome, Haleigh’s body doesn’t produce cholesterol, which impedes her growth. She was born weighing 5 pounds, 3 ounces. At 15 months, she tips the scales at 11 pounds and still wears clothes made for babies less than 6 months old.
Gay said she knew something was wrong when she was five months pregnant and she and her unborn baby weren’t gaining weight. That’s when pediatric cardiologists discovered that Haleigh’s aortic valve was severely pinched.
Doctors cut through Haleigh’s back at only 9 days old to repair the valve.
But shortly after Haleigh was born, doctors determined that the heart defect, web toes and extra pinky finger were part of the syndrome.
Both parents must carry a particular mutated gene for the syndrome to manifest in their children.
“Anything you read about this syndrome, it can be very, very bad,” Gay said. “If you really have it really severe, (doctors said Haleigh) may never walk, talk, eat.”
Haleigh has a mild form of the syndrome, which affects her vision and muscle tone and requires her to be fed and receive medications through a tube into her stomach.
Though she’s behind her peers developmentally, Haleigh is beginning to laugh and scoot about. She’s also feeding herself, Gay said.
Haleigh loves Mickey Mouse and lifts up her head to Army crawl.
“She is the happiest child,” Gay said. “For all the stuff she’s been through, she’s not a whiner. She doesn’t fuss. ... She’s happy-go-lucky.”
During the early days following her birth, when physical contact with Haleigh was limited, her father rubbed her head, something she still enjoys.
“She melted his heart,” Gay said.
Haleigh had another surgery to band her pulmonary artery and remove her extra finger. She still faces a heart catheterization in January and another heart surgery to remove the band and build a heart chamber wall in February, possibly earlier.
For fear of having another child affected by the syndrome, Gay said she and her husband have opted not to give Haleigh a sibling.
The Gays were told there was a 25-percent chance that Haleigh wouldn’t survive delivery and another 65-percent chance she wouldn’t make it through her first heart surgery.
“I’m blessed,” Gay said, despite the financial and emotional burdens she and her husband now face. “We’re lucky. ... She’s a miracle.”
Denise Parrish, Georgia Health Sciences University Media Relations Manager for Clinic Affairs, said the Radiothon is the largest single fundraiser for the medical center. Last year’s event raised $210,000, the most ever.
“All the money that is raised locally, stays local,” Parrish said. “The money goes to anything from special needs equipment, blanket warmers to BiliBeds (to treat jaundice) ... even to things that make kids feel better in a children’s hospital, like video games, DVD players, things like that.”
One-time donations are accepted. Also, donors can become “Miracle Makers” with a $10 per month donation.
Donations can be made anytime by visiting www.georgiahealth.org/giving.
During the Radiothon, donations can be made by calling (877) 719-KIDS (5437).