Epidermolysis Bullosa: Worst Disease You Never Heard Of

Dec. 19, 2011— -- The pain never ends for Tripp Roth, a 2-year-old boy who has outlived all medical predictions with a fatal disease that has taken his sight, speech, and scars his body from the inside out; the severest form of EB, junctional epidermolysis bullosa.

The tiny toddler, who has blisters on his face and hands, has not been outside for a full year. He spends his life swaddled in bandages, being rocked in the arms of his mother, Courtney Roth, or his grandmothers.

Tripp breathes with the help of a trachea tube and requires sedatives so that his caregivers can bathe him, an excruciating process that takes three hours.

Infections and trips to the hospital are never-ending and there is no cure for the disease. The thousands of supporters who have rallied behind the family call it "the worst disease you never heard of."

Born with epidermolysis bullosa, a genetic disorder that affects 1 in 50,000, Tripp is missing skin on much of his body and what skin he does have is as fragile as a butterfly, and can easily erode. He is missing a protein that binds one layer of skin to another.

The disease is a spectrum of inherited skin disorders, whose hallmark is a blistering response to minor injuries, heat or even rubbing or scratching. 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.

There is no effective treatment, other than bandages and antibiotics to avoid trauma and infections.

But Tripp's mother, who gave up a nursing career after Tripp's birth, said she derives inspiration from the remarkable little boy, who just won't stop fighting. Initially, doctors said he wouldn't live beyond a year.

"He certainly astounded his doctors," said Roth, a 26-year old divorcee from Ponchatoula, La.

"He is just amazing. I have always said that from the beginning," she said. "I have never been sad around him and I try not to cry around him. We've made it to where he is in the happiest environment possible. His spirit and personality are what keep me going."

But Roth, herself, has also been an inspiration to others. She recently was named one of ABC's "Personal Heroes of 2011."

She was selected because of the overwhelming number of letters and emails from supporters around the country, many of whom had never met Roth, but read her blog, "EB'ing a Mommy" and a Facebook page, "Prayer's for Tripp."

The blog, which Roth began three months after Tripp was born, has nearly 2,000 subscribers and 3 million page views; the Facebook page already has 30,000 members.

"I started my own Facebook page, but when it reached the friend limit of 5,000, a lady from the community started one for him," Roth said.

"It's also just amazing, the incredible people who pray for Tripp and our family every night," she said. "They say things like, 'He has touched our lives,' "We hug our children a little tighter,' and 'I have more faith and pray more.'"

Roth said Tripp was "absolutely gorgeous" when he was born, with just a small blister on his head, a few on his back and deformed fingernails.

Doctors diagnosed him immediately, but Roth had no idea what the disease meant.

"Then I went online and saw a completely terrifying picture," she said.

Tripp had trouble breastfeeding because of the sores in his mouth and eventually needed a feeding tube. He's still tiny, as well, weighing only 27 pounds in his bandages.

"It's so hard," Roth said. "Obviously he can't speak. He can communicate well, but we have a hard time and from what I can see in his mannerisms, he definitely looks in pain all the time."

Bath Time Is the Worst of All

Amy Sneed Barrios, a local TV reporter who has become a friend of the family, said she recently witnessed bath time. "It was pure torture for the little boy. He cried and shivered the whole time," she said.

Roth writes in her blog that sometimes they forget Tripp's brain is "intact 100 percent."

"He knows when we are whispering about it, or trying to spell the word 'bath,'" she writes. "We even renamed it, but he figured that out, too. He's just too smart. He can sense my anxiety, too, I think."

Still, the boy has developed the ability to play the drums, when his sores have receded enough for him to stand up, which he has been unable to do for the past two months.

Recently, Kevin Clash, who is the voice of Sesame Street's "Elmo," was so impressed, he wrote a special song for the boy.

Roth said she could not handle the exhausting medical routines and emotional exhaustion were in not for her mother, Anita Hotard. The family, devote Catholics, say they draw from their faith, and each other.

"We just do what we have to do," said Hotard, who is one of seven and raised three children of her own.

Roth has now moved in with her parents.

"We were given a little angel and we have to take care of him," said Hotard, 51. "I would hope anyone would do the same. It has its rewards and he is happy because his mom is so happy. She is always upbeat around him because that is what he deserves. He is in so much pain."

"If he can do it, I can do it," she said. "I don't have near the agony and stress he has."

Their hope is for Tripp to be pain free and to live a normal life. "But I am not sure that will happen," she said. "He is here for a reason and a purpose, and I am assuming God is not finished with his mission."

But Hotard admits her daughter has her "trials," and Roth choked on a few tears when her mother whisked away Tripp so she could talk to ABCNews.com.

"I don't know how I would do it without my mom," Roth said. "We really lean on each other. … We take care of each other and when she is tired, I pick up the slack and she picks up the slack for me."

Roth writes in her blog that she sometimes wishes that God would take Tripp "home" so he wouldn't suffer anymore. "It's a terrible, guilty feeling," she said. "I go through so many emotions a day that it's not even funny."

But Christie Zink, a Minnesota mother of three who learned about Tripp's story through social media, said meeting Tripp for the first time compelled her to advocacy.

"When I found her blog, I stayed up an entire evening reading it," she wrote to ABCNews.com in an email. "I knew that I had to reach out to her. .. .I felt incredibly compelled to do something."

Since then, she has helped raise funds for the EB community through a video dedicated to Tripp. Zink, a photographer, also helped organize an awareness event at Louisiana State University in October. Afterwards, she met Roth and was allowed to watch Tripp bathe.

"Seeing his pain first hand and watching his mom and grammy so beautifully care for him, was humbling to say the least," writes Zink, 36. "Out of the corner of his eye, one tear started to fall. I watched as it ran down his face and at that moment his pain became so real that I could feel it and my heart broke. That tear just really spoke a million words."

To learn more about epidermolysis bullosa and to help, go to the http://www.debra.org (DEBRA) or the Puck Fund.