HOUSTON – Mark LaBarbera says his 15-year-old daughter, Haylee, is his hero.
And after sharing the family’s story, it’s easy to understand why.
Mark isn’t exaggerating when he says, “She’s almost like a burn patient. What she goes through every single day, some people don’t go through in a lifetime. It’s an incredible feat for any person.”
Haylee and her 11-year-old sister, Abbie, were born with EB, a simple acronym for a very complex, debilitating disease known as Recessive Dystrophic Epidermolysis Bullosa.
EB is caused by an inherited genetic abnormality that leads to a lack of functional collagen, resulting in chronic, painful blistering of the skin. It can occur in various forms, from mild to severe. The LaBarbera sisters have the most severe – and rare – form of EB. Their skin is so fragile that the slightest touch or minor friction can cause blisters. There is no cure or treatment for EB, except for daily wound care and bandaging.
Mark, along with his wife, Jen, calmly and matter-of-factly described the disease and how it has affected their lives physically, emotionally and financially as they and their daughters sat in the dining room in the home of Jen’s parents, Jim and Pat Polly of Houston. They selected the location because their North Strabane Township townhouse is crowded with their daughters’ medical equipment.
Haylee LaBarbera was born in Tunkhannock, a small town about 35 miles northwest of Scranton, the second of the LaBarberas’ three children. Their son, Andrew, born four years earlier, was healthy. It was “quite obvious,” Mark said, Haylee was not.
She had blisters on her lips, hands and feet, and when the nurses began suctioning the fluid from her mouth, slivers of her tongue came off as well.
“I was startled. The doctor was startled,” Mark said. “She’s crying and flailing and nobody knew why. It was pretty traumatic.”
In fact, Jen said, “The nurses were afraid to touch her.”
Doctors considered flying Haylee to Penn State Geisinger Medical Center the night she was born, but opted, instead, to await the results of a biopsy. In the meantime, Jen began to research her daughter’s symptoms when she stumbled upon DebRA of America, the only national nonprofit dedicated to funding research and providing services and programs for those with EB.
It was Jen who made the diagnosis – but not before additional damage was inflicted on Haylee’s skin. Haylee had been hooked up to various montiors, and when the adhesive pads attached to the leads were pulled from her chest and forehead, chunks of skin were ripped off.
“It was really trial and error back then,” Mark said. “Doctors didn’t go to medical school to take care of kids with EB. A lot of doctors aren’t familiar with it because it’s so rare.”
But they’ve learned a lot since then.
By the time Abbie was born, the LaBarberas were living in North Strabane. They returned to Southwestern Pennsylvania to be closer to their families for emotional and physical support. (Mark’s parents live in Penn Hills.)
Even though the couple were told the odds of winning the lottery more than once were greater than having another child with EB, they soon discovered that wasn’t the case.
But Abbie’s skin lesions have not been as severe as Haylee’s. Mark believes Abbie has tougher skin because she was handled much more gingerly at birth, the beneficiary of the knowledge her parents gained from Haylee’s birth.
Abbie was born at St. Clair Hospital, and when it was apparent she, too, had EB, Mark said the doctors deferred to him regarding her care, and she was taken almost immediately to Children’s Hospital in Pittsburgh.
The early years
EB did not affect the girls cognitively, but Haylee experienced other developmental delays, and she did not walk until she was 4 years old. Jen said a lot of people with EB use wheelchairs. Haylee and Abbie don’t, but they do use walkers.
“We always tried to encourage the girls to walk and crawl and exercise,” Jen said.
But it hasn’t always been easy.
“You don’t want to encourage your daughter to crawl when you see blood running down her leg,” Jen said.
Abbie loves to dance, and she’ll attend classes regularly, knowing full well the pain – and blisters – that will accompany them. She also enjoys swimming.
Still, the girls’ mobility can be awkward, the result of extensive bandaging, much like that of a mummy, that’s required to prohibit movement as much as it is to offer protection.
“Haylee is constantly raw,” said Mark, estimating that as much as 40 percent of Haylee’s body has no skin.
When the girls were toddlers, Jen would cut out the tags from their clothes and turn them inside out to prevent any seams from irritating their skin.
“Haylee is constantly wrapped,” Jen said. “If it were up to Abbie, she would never be wrapped. When their skin breaks down, it heals, but not completely.”
Over time, the disease has progressed, attacking and spreading over their bodies both internally and externally. Haylee’s fingers have fused together, although she has partial thumb movement, and she has lost her fingernails and toenails. The girls have developed blisters on the linings of their esophagus, mouth, stomach and upper airway, and their tongues are webbed and attached to the bottom of their mouths.
“They’ve gone through times when they couldn’t even swallow their saliva,” Jen said, noting they’ve had surgery to insert a balloon to expand their esophagus.
And even though they both have feeding tubes, Haylee continues to struggle with nutrition. She has an iron deficiency that requires regular transfusions.
The medical expenses associated with the girls’ disease are quite high. They obviously require specialized care, and the place they receive it is at the EB Center at Cincinnati Children’s Hospital, the only hospital in the United States with protocols in place to treat EB patients. Dentists, ophthalmologists, cardiologists and surgeons from across the country who have trained themselves to treat EB patients periodically gather at the center to provide medical care. The family makes two to three trips a year, depending on what surgeries the girls need, and whether they can afford it.
Mark and Jen both work full time, and Mark has taken on a part-time job, but much of the girls’ out-of-state and out-of-network care is not covered by the family’s health insurance. To help ease their financial burden, Consulate Healthcare of North Strabane will hold a fundraiser, Taste of the Town, Sept. 26 (see related story).
“I think we’ve seen every specialist out there,” Jen said. “It’s so reassuring going to Cincinnati because the anxiety is so high every time you move them around on a bed. What would be outpatient for many requires overnight stays for the girls.”
The couple said they have been blessed, however, with medical insurance that covers the girls wound-care supplies, which cost $20,000 per month. Since 2000, George O’Hare, owner of Jeffrey’s Drug Store in Canonsburg, “has gone above and beyond” to help the family obtain the specialized bandages.
“We’re very thankful,” Jen said. “In other states, some parents have to rewash bandages because they’re not covered by their insurance.”
The LaBarberas also are grateful to Canon-McMillan School District, which has been gone the extra mile to accommodate the girls. Since heat can cause spontaneous blistering, when Haylee was in middle school, the district provided air-conditioning in rooms where she has classes. Haylee is now a sophomore at Canon-McMillan High School, and Abbie is a sixth-grader at North Strabane Intermediate School.
Every morning, Haylee gets up at 5 a.m. to begin the lengthy – often painful – ritual of undressing and redressing her wounds before getting dressed for school. A nurse helps Haylee on weekdays; her mom helps her on weekends.
“Haylee likes summertime – and not for the weather,” said Mark, referring to the fact she can sleep in during the summer.
Haylee and Abbie are each accompanied to school by a nurse familiar with EB, who helps the girls with their walkers and books, and will change their bandages if needed.
Haylee is a straight-A student and an award-winning artist. In middle school, she was named Artist of the Year. She enjoys drawing, sculpting and painting, and she likes to read and write. Abbie said her favorite subject is math.
Although the girls had little trouble socializing as youngsters, as a teenager, Haylee has become more sensitive about her appearance. Because of her challenges with nutrition, she is shorter than other girls her age, and her mother applies enough makeup to hide any blisters that apear on her face.
Through Facebook, however, Haylee has been able to connect and commisserate with other teens struggling with the same disease.
“We got used to the stares and the questions,” Mark said. “As she gets older, she’s more self-conscious. I’d rather have somebody come up and ask what happened rather than have the gawking and staring.”