Butterfly Kids: When Skin Blisters Can Kill

Just days after Jackson Silver was born on Oct. 11, 2007, his parents' joy was replaced with horror.

As the nurse gently removed the bandage from the baby's left heel -- where blood is routinely drawn at birth -- a large patch of skin came off with it.

Jackson was diagnosed with epidermolysis bullosa or EB, a rare genetic disorder that makes the skin as fragile as a butterfly's wing. He is missing a protein that binds one layer of skin to another.

"Every morning Jamie and I wake up hoping that Jackson hasn't torn the skin off his neck and face from rubbing during his sleep," said his father, Alexander Silver. "We hope he does not have a blister in his mouth or throat that prevents him from eating that day."

Video: Families of rare diseases testify before Congress.
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"Throughout the day, we check his body for blisters and lance any with large needles," he said. "Sometimes this can be extremely painful for Jackson but we are forced to physically restrain our son and do it anyway."

EB, which strikes only about 100,000 Americans, is a group of diseases characterized by blister formation after minor trauma to the skin. With limited treatment and no cure, those with the most serious form die before they are 30.

About 22,000 children, those like Jackson, have fatal recessive dystrophic EB.

They are often called "butterfly children," and because there are so few of them, there is no incentive for the government or drug companies to find a cure.

This week, Alexander and Jamie Silver, who live in New York City, joined other families to ask Congress to fund research for rare diseases like EB, meeting with Sen. Tom Harkin, D-Iowa, and his committee on health, education, labor and pensions.

"Jackson takes a bath with vinegar or bleach to help kill the bacteria on his little body," Silver told the committee. "This bath often causes stinging pain to Jackson's many open wounds."

"And yet, through all these painful challenges that would cause most of us to simply give up, our brave Jackson's smile lights up a room, even though his body is slowly being ravaged by this disease," said his father.

The National Organization for Rare Disorders (NORD) estimates that there are 7,000 rare diseases affecting 30 million Americans. A condition is defined as "rare" if it affects fewer than 200,000 people.

Only 200 of those 7,000 rare diseases have FDA-approved treatments. In 2009 the National Institutes of Health had a budget of $30 billion and yet only $118 million goes to fund research for rare diseases.

Dr. Peter Marinkovich, a dermatologist and researcher from Stanford University, said EB is a "family of diseases," the worst of which is recessive dystrophic EB, which is Jackson's condition.

"They used to die in childhood but now, with better wound care and antibiotics, they are living in to their 20s and 30s," he said. "But a sub-set are getting invasive cancers."

Most of these diseases are inherited and range in severity from mild to severely disabling and life-threatening diseases of the skin.

Blistering occurs when the two layers of skin -- the epidermis and the dermis -- lose their connection. About 8 to 10 proteins hold those layers together and if one is defective, the entire link breaks.

It affects not only the skin, but anywhere in the body where tissues are held together more firmly: the eyelids, the upper esophagus, inside of the mouth and the genital-rectal area.

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