Baby With the 'Worst Disease You Never Heard Of'

Kiira at two months old. Photos courtesy of the Kinkle family.

Parents in California are speaking out about their baby daughter’s rare genetic disorder in the hopes of raising awareness and research funds for the condition. “I never would wish this upon anyone, knowing she is going to live a life of pain,” Kristi Kinkle tells KCRA, explaining that recessive dystrophic epidermolysis bullosa (commonly called EB) makes skin-to-skin contact with her infant Kiira nearly impossible.

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The condition, affecting only one out of every 20,000 newborns, causes skin to be so fragile that it can blister or even tear from the slightest touch or bit of friction. It means that Kiira’s parents and sisters, ages 2 and 4, must be extremely careful about how they make any contact with the 4-month-old.

“I don’t think they get it,” Kiira’s dad, Jason, tells KCRA about the older girls. (Yahoo Parenting was unable to reach the Kinkles for comment.) “Every night they pray that her ‘owies’ go away, but I don’t think they understand the severity of it.” Kirsti explains that the only way to pick Kiira up is with a soft blanket wrapped around her as a protective barrier. She and Jason must also spend one to two hours a day individually bandaging their baby’s fingers and toes to protect them from rubbing against each other. A fund has been set up to assist the family with ongoing medical expenses, because while the Kinkles have medical insurance, but it does not cover the estimated $10,000 to $20,000 yearly cost of the daily at-home treatments.

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“They say it’s the worst disease you never heard of,” Kirsti says, quoting a tagline of DEBRA, the Dystrophic Epidermolysis Bullosa Research Association of America, which is dedicated to fundraising for research in the aim of finding a cure. The organization’s executive director Brett Kopelan, of New York City, says the phrase popped into his head when his 7-year-old daughter, Rafi, was born with the disorder, and he began researching the prognosis online.

“A little piece of your heart kind of breaks every day,” Kopelan tells Yahoo Parenting, explaining how he must watch Rafi endure the daily excruciating pain that comes with bathing her blisters and wounds. “It’s hard. It’s really hard to inflict pain on your child every day. This disease is about pain.”

Though it’s fragile skin that’s the most visible part of the disease, Kopelan explains, EB is actually a connective-tissue disorder, caused by the body not producing any collagen-7, which is the sticky protein that holds together our two layers of skin. Without that protein, friction causes skin to easily tear or blister, and Kopelan says his daughter must be wrapped chin to toes in bandages at a cost of $32,000 a month (thankfully covered by the family’s insurance, although not by most), and travel to school in a motorized wheelchair “because sneakers would tear her feet apart.” She also takes several pain medications, including methadone and Neurontin.

But there’s a host of secondary symptoms to EB, he says, including anemia, osteoporosis, muscular-skeletal issues, and gastrointestinal problems caused by the esophageal blisters that often necessitate the use of a gastronomy tube. “Eating is almost impossible, so a lot of these kids have growth issues,” says Kopelan.

The disease also worsens as kids grow, and brings with it a shortened life expectancy due to the high rate of systemic infections (sepsis), malnutrition, and cardiomyopathy (a weakening of the heart muscles). Because of the already-heightened risk to Rafi’s life, Kopelan says he and his wife made the difficult decision for their daughter to undergo a bone marrow transplant when she was 3 through the University of Minnesota, a leader in EB research. The theory is that the new cells would be able to produce collagen-7 — and they have — but not to the extent they’d hoped for.

Baby Kiira’s blistered fingers.

Still, Kopelan says he wants the Kinkles to know one thing: “There’s hope now.” In the years since Rafi’s birth, the research into EB has come along way, with work currently being done to develop a topical-cream treatment, gene therapy, and a collagen-7 replacement therapy. A clinical trial is currently underway at the Lucile Packard Children’s Hospital Stanford, which has a special clinic devoted to EB. The trial, open only to those over 18, is using skin grafts to infect the stem cells of five patients with a virus that’s carrying the correct gene. The hope is that that gene will insert itself into each patient’s chromosomes, basically correcting the disease, and also that the FDA will allow a phase-two trial with children after the adult clinical trial comes to an end in February.

“The problem with this disease is when you’re young, you’re getting wounds that never heal,” Dr. Alfred Lane, Stanford professor of dermatology and pediatrics who is leading the clinical trail, tells Yahoo Parenting. “So we want to get these kids when they’re newborn and infants. We’re hopeful for a lifetime of therapy.”