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Last updated: December 02. 2013 9:17AM - 1257 Views
MARY THERESE BIEBEL mbiebel@timesleader.com



Two-year-old Ayla Spinelli plays with her mother, Amy Spinelli, on a recent afternoon in their Wilkes-Barre home.
Two-year-old Ayla Spinelli plays with her mother, Amy Spinelli, on a recent afternoon in their Wilkes-Barre home.
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EPIDERMOLYSIS BULLOSA FACTS

• EB affects 1 out of every 20,000 births.

• People with the more severe types of EB have an exceptionally high risk of skin cancer. In its most severe form, the condition is fatal in infancy.

• Blisters must be lanced, drained and kept very clean to protect against infections.

• Blisters can form in the esophagus area, preventing swallowing, and they can form on the eyes, blinding people for days at a time.

MORE INFO

Learn about more ways to help the cause of EB research and education through Amy Spinelli’s website, ebButterflyMission.org or her Facebook page, facebook.com/ebButterflyMission.



No child likes “boo boos,” but for 2-year-old Ayla Spinelli, “boo-boo toes” can be extra painful.


“I cry,” she told a visitor to her Wilkes-Barre home.


The little girl, who is a fan of Thomas the Tank Engine, watching the character “Sofia” on TV and playing with her twin brother, has a disorder known as epidermolysis bullosa, which makes her skin extra fragile and subject to blisters.


“When she started to walk she’d get blisters on her feet,” said her mother, Amy Spinelli, who checks her daughter’s skin every day and pops blisters so they won’t get worse.


“The blisters have to be lanced and drained,” she said. “You take a pin and push it through one side and out the other.”


While Ayla is prone to blisters on her feet and toes, they also can form on the little girl’s back, thighs, neck or ankle, simply from the friction of her clothes.


But her case is not as serious as it could be. “I am thanking God she has a mild case,” Amy Spinelli said.


In more serious cases epidermolysis bullosa, or EB, can result in blistering and wounds that cover most of a person’s body. There are cases where blisters and scarring are not only external but internal, and some patients can’t swallow food because the inside of the throat is affected.


Some seriously affected babies are born with large sections of skin missing because it sloughed off during the birth process. Some older children spend much of their life swathed in bandages, mummy style, as protection for the wounds. The disorder causes “agonizing pain that many of us could never imagine” and sometimes leads to early death, said Spinelli, who corresponds electronically with other EB families.


Youngsters with EB are sometimes called “butterfly children” because their skin is as delicate and easily torn as a butterfly’s wing. That has given Spinelli an idea for a fund-raiser, tentatively set for the spring, which could involve a release of real butterflies.


In the meantime, she works as an advocate for EB, trying to spread the word about the need for research and for the money to support it. When she comes home from her job as a marketing executive for the Red Cross, she said, she devotes some evening hours to advising EB families across the country on how to reach their own fund-raising and awareness goals.


“I’m a wife, a mother to twins, and I have a job. But in the evening, I’m an advocate,” she said. “When I saw how badly other kids have it, it affected me on a deep level.”


Preschool may be in the future for Ayla and her twin, but for now their grandmother, Karen Skiba, cares for them while their parents, Amy and Anthony, who is a truck driver, are at work.


Her brother, also named Anthony, is “his sister’s biggest advocate,” their mom said, explaining he never wants to take off his awareness bracelet. “Even after bath, he will say ‘EB bracelet,’ ” and want to put it back on his wrist.


Ayla’s condition does seem to be improving, Spinelli said. As recent proof, she recently found a pair of shoes her daughter seems to tolerate. Ayla is barefoot much of the time at home — that’s better for her feet — and typically wears sneakers when she goes out. But Spinelli recently found a pair of Mary Janes with a little strap that seem to be working well.


Ayla’s reaction?


“Girl shoes! Girl shoes!” she said with delight.


 
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