Central Indiana family of ‘Butterfly Kid’ raising awareness about disorder

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AVON, Ind. (Oct. 20, 2014)-- An Avon boy with a rare disorder is said to have skin as fragile as a butterfly's wing.

Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder.  There are many genetic and symptomatic variations of EB, but all share the prominent symptom of extremely fragile skin that blisters and tears from minor friction or trauma.

EB is always painful, is often pervasive and debilitating, and is in some cases lethal before the age of 30.  There is no treatment or cure.  Daily wound care, pain management and protective bandaging are the only options available.

EB affects 1 out of every 20,000 live births and those born with it are often called "Butterfly Children" because as the analogy goes, their skin is as fragile as the wings of a butterfly.

Charlie Smith, 10 months old, suffers from EB. The Avon child was born December 19, 2013, missing nearly 20 percent of the skin on his body.

"Every day we have to treat new blisters and wounds that cover between 40% and 60% of his body. We keep sterile needles that we use to lance and drain the blisters so that they don't continue to grow and cause him pain. Every other day, we have to change the bandages that cover his arms and legs which takes over an hour. We can't hold him like a normal baby, normally we keep him on a pillow for his comfort and our ease in moving him around the house. He can't wear normal baby clothes, nothing that has to be slid down his body is acceptable, therefore no onesies/t-shirts/rompers or other normal infant clothing," explained mother Emily Smith.

EB can result from a genetic mutation in one of 18 genes. These mutations, or errors in the genetic code, do not allow the body to either produce an essential protein or produce a working form of the protein.  EB affects both genders and every racial and ethnic background equally.

EB Awareness Week was first legislated in 1984 marking the third week of October to raise awareness about what is sometimes called the "worst disease you've never heard of.”

"Any friction on his skin can cause a blisters, and those are painful. This is such a broad spectrum of blistered diseases that it needs research," said Charlie's pediatrician, Dr. Anne Stump with Step by Step Indianapolis.

To increase awareness about EB, celebrities like Pearl Jam's Eddie Vedder are helping to raise money for genetic testing research.

Emily Smith says it costs her family nearly $10,000 a month for the supplies needed to care for Charlie. Charlie's blisters must be cleaned every other day, and his wounds carefully wrapped like a burn victim.

"Thankfully, our insurance covers much of these costs," explained Smith.

Emily and Don Smith are hoping for cure.

"He has a lot of challenges that make his life every difficult, but he is a very cheerful little boy," said Smith.

Click here to more and donate to EB Awareness Week.

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