As Child Struggles With Rare Skin Disease, Parents Raise Money To Get Her Help

LEDYARD, CT —At naptime, little Avery Silva rests upright in a car seat lined with a soft pink blanket, one of the few things that doesn't cause her fragile, four-month-old skin to blister.

Grandma pushes the plush-lined safety seat around a quiet room hoping the delicate girl might fall asleep sitting up, an uncomfortable yet necessary precaution to keep her alive.

Avery is a “butterfly child.”

She was diagnosed at birth with epidermolysis bullosa or EB, a rare genetic disease that makes her skin as fragile "as butterfly wings." The disease affects her throat and esophagus, too, which can cause vomiting, and requires the baby to sleep upright to avoid choking.

One out of 20,000 babies are diagnosed with EB every year, according to the Dystrophic Epidermolysis Bullosa Research Association (debra) of America. There is no known cure. (For more information on this and other neighborhood stories, subscribe to Patch to receive daily newsletters and breaking news alerts.)

“When they gave us the diagnosis, it was like ‘really, this can happen?’ You just want to pass out or drop to your knees because it’s almost like she’s a burn victim,” Silva said.

For the first three weeks of Avery’s life, her parents, Thomas and Kristin Silva, couldn’t hold her. Doing so might rip the skin off their baby’s body.

See also: Heartbreaking: Parents Can't Hold Baby For Fear Her Skin Will Come Off

Now, the Silva’s can hold their daughter by taking prescribed precautions.

Every morning, Avery's mother, Kristin Silva wraps her daughter in special bandages that aim to protect every inch of the baby’s skin. The process takes hours.

“When she’s happy and fed and she’s not sleeping I will usually start by bandaging her arms, then her hands," Silva said. "Her bad foot is still painful so I try to do that one last.”

While those prescription bandages — and that soft pink blanket — have helped protect the baby’s tissue-paper skin, Avery still struggles to breathe and eat.

“She had a feeding tube inserted because she was not getting enough calories," Avery's great aunt Jodie Dunn said. "She needs way more calories than a regular baby because her body is constantly trying to heal her wounds.”

Worse yet, the Silva’s worry about their daughter’s uncertain future.

There are two main types of Junctional EB — "herlitz" and "non-herlitz." Babies diagnosed as herlitz usually survive less than a year.

So far, genetic testing results have been unclear.

“The dermatologist does not even know what [this] means," Silva said. "So, he is sending the reports to many different doctors to see if they can give me an answer on what that means for Avery.”

Doctors told the Silvas there’s a chance Avery could be diagnosed with junctional non-herlitz with a herlitz mutation.

Kids with that diagnosis “usually make it until they are about eight years old," Silva said.

That’s enough to give this Ledyard family hope. There are doctors in Cincinnati who specialize in treating EB, and the Silvas and their friends have started raising money so they can afford to travel and pay for their daughter’s treatment.

By Thursday, they had raised 6,100 of a $10,000 goal on a UCaring Page. A family friend, Vicki Muscarella, is organizing a fundraiser entitled the "Butterfly Baby Bike Run for Avery," an approximately 30-mile bike run from New London to Montville.

The event will start at Mike’s Famous Harley-Davidson in New London at 10 a.m., where there will be coffee and donuts during registration. The run will end later that day at a benefit at the Montville Polish Club, featuring live music, food, a raffle and more.

Entrance to the benefit requires a $20 donation and is open to the public. Guests will receive a special silicon bracelet as their ticket to get inside.

For more information on the Butterfly Baby Bike Run for Avery, visit the event's Facebook page. Further information can also be found at the Team Avery Facebook page.

Kristin Silva says she’s grateful for all the financial and emotional support her family has already received from strangers.

“I have a lot of parents of EB patients I can reach out to for help now," Silva said. "Other EB patients and parents have more experience with this [disease] than any doctor."

She shares Avery’s story on Facebook, hoping to inspire others and spread awareness about EB, “the most horrible disease you’ve never heard of.” She does it for Avery, her swaddled bundle of joy.

“She could have the worst day ever and be in lots of pain, but as soon as it’s done she is smiling and laughing," Silva said. "She’s a very, very strong little girl. If I’m having a bad day, she keeps me going.”

Images courtesy Jodie Dunn