July 22, 2010 -- 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."
"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.
"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.
"The mildest patients don't even know they have it," said Marinkovich. "They occasionally get into sports at school or in the Army and do a lot of marching then notice blisters, more than their friends."
The greatest risk is infection.
"They are like walking burn victims," he said. Children with EB have an increased need for calories and protein, just as they deal with sores in their mouths, problems with their teeth and strictures in their esophagus.
Orphan Diseases Get Little Research Funds
"Funding is limited for orphan diseases," said Marinkovich, who is director of Stanford's Blistering Disease Clinic.
"Diabetes and hypertension affect so many people that drug companies are happy to jump in with therapies and make a lot of money. But with EB, if you are able to survive therapy and make it to [research and development] and make it happen, the investment is not going to pay off."
Most of the bridge between basic research and clinical biotechnology is private investors, said Marinkovich. "No investor is interested if you are not going to be profitable, so we have to do it all ourselves or get grants."
Joella Murray, whose mother Kate Murray attended the Senate committee hearing, was born with no skin on her legs. It takes her mother an hour a day to bandage up Joella's blisters.
"I think about the future, where she will go from here," said Murray, 33.
Sometimes wounds can cover up to 75 percent of the body, and can also scar the corneas or tissue in the mouth. Even the friction of eating can damage the esophagus.
Such was the case with Megan Barron, a 19-year-old sophomore at Duke University, who is covered from head to toe with bandages and relies on a feeding tube because of esophageal damage.
"I'm here to come and show support and bring awareness to EB," said Barron, a political science major. "There is a lot of stigma associated with it."
"We tend to write off these children with rare disorders because they don't have much to live for, but as far as I am concerned, this is definitely not the case," she said. "We just want a fair shot at life."
Though Barron can't play high-impact sports like soccer, she is active in the Social Democrats at Duke and helped produce a campus comedy show. "I do as much as I can," she said.
Outbreaks can be caused by stress, warm climates and infection. Any kind of friction can create a blister -- a diaper, an article of clothing, a bed sheet.
For Brandon Joseph of Los Angeles, who has the same recessive dystrophic form of EB as Barron, it was the birth itself. Most of the skin on his hands and feet and parts of his trunk were missing and the newborn was sent to the neonatal intensive care unit.
Not knowing what was wrong, the nurses taped the ventilating tube to his cheek.
"When they took the tape off, it tore his cheek," said his mother, Andrea Joseph, a 44-year-old talent manager. "We were all learning at the same time."
When the doctor finally surmised Brandon had EB, which he found in the medical encyclopedia, the family was stunned at the diagnosis.
"I was in shock," said Joseph. "I had a healthy 9-month pregnancy, but now you are told your child has this disease and there is no cure and no treatment, and you have to bathe in bleach. The first thing that runs through my head was, 'Oh, my God, how will I hold him and bathe him and nurse him?'"
Brandon was slow to walk -- "because he associated walking with falling and causing a boo boo," said Joseph, but otherwise is doing just fine.
"He can wake up in the morning with five or six blisters, depending on what his body went through the day before, and throughout the day if he has injuries, we have to pop those," she said.
Epidermolysis Bullosa Can Be Fatal
EB can be devastating to a growing child, causing the fingers and toes to fuse and leaving severe deformities like so-called "mitten hands." Chronic anemia reduces energy and growth is retarded.
"Imagine it like a burn patient with open wounds," said Joseph. "The body is in a constant state of healing. Your body is depleted of calories and low on iron and there are many other aspects of the body that come into play."
Parents must always guard for infection with proper bandaging and antibiotic creams.
"You need to protect from trauma, but not so such that you are retarding growth," she said. "The body and skin have to be able to move, breathe and grow hard with the baby crawling or it causes more problems."
Though Brandon is a "bit of a fearful explorer," he now plays soccer and baseball, rides his bike , loves Legos and has a lot of determination, according to his mother. Because water is so forgiving, he loves swimming.
His mother now is executive vice president of the EB Medical Research Foundation, which funds pioneering research at Stanford University, UCLA and the University of Southern California.
The latest Stanford research is focused on gene therapy, sampling an EB patient's skin cells and inserting the correct genes in the lab, then grafting the corrected skin back on. Clinical trials on adults will start soon.
Joseph finds support from other families with butterfly children -- how to wrap wounds, creams and salts and clothing. "What one woman tried in Michigan gets shared with families in LA," she said.
"I like to focus on the positive," she said. "We don't focus on what he can't do. We don't write a script for him. Right now, he's an amazing kid and has a great spirit about him. He has literally had to form a thick skin about what he has."
"Kids will look at him and say, 'Oh, that's gross,' but I tell him not everyone has special skin, and everyone has something different about them," she said. "The important thing is that he is not afraid of what he has."
"People are going to be curious," said Joseph, "but hopefully, not cruel."
In the meantime, Jackson Silver's parents said the Senate hearing was a "great step."
"With the support of the government and the private sector, we can cure this disease and give all the kids with it a chance at healthy and pain free lives," said Alexander Silver. "This can and must be done."
Learn more about clinical research on EB at Stanford University.
ABC News's Natalie Gewargis contributed to this report.