Risky bone marrow transplant can help children with terrible blister disease

It is the worst disease you have never heard of, a deadly condition that targets children.

It causes them to blister and develop open wounds with the slightest touch.

Now, a new, but risky treatment is giving families hope.

There are bright red blistered skin, excruciating open wounds, outside and inside their bodies. However, these kids are not burn victims.

They were born victims of EB, Epidermolysis Bullosa.

Dr. Jakub Tolar says, “This is one of the most awful diseases I've ever seen."

Krista Boyd’s son has EB. She says, “Any type of sheer force or little trauma could cause these huge blisters to form."

Her son, Keric, was born with EB. His body lacked normal collagen type-seven, a protein that holds the top and bottom layers of skin together.

Dr. Tolar says, "And that's why their skin sloughs off."

Keric's first few years were spent wrapped in bandages. Today, he's a different kid, thanks to a risky stem cell treatment. The bone marrow transplant procedure has helped some kids, but others have died because of it.

“We know this is dangerous, but living with EB is very dangerous. It's very unsafe to have EB because you know you're going to die of it."

First, doctors at the University of Minnesota use high-dose chemotherapy to wipe out the immune system. Then, donor stem cells are injected. The cells make their way to the skin and secrete collagen type-seven. If the treatment works, it makes the skin more resistant to blistering and can encourage healing.

"This is the first time they have an option of actually living close to normal lives."

Today, Keric is more concerned with his dance moves than his condition, and his mom is thrilled.

Krista says, "We never imagined it could be so good."

Dr. Tolar says of the 19 kids enrolled in the transplant trial, five died because of EB, or from transplant complications.

Right now, the University of Minnesota has the only program in the world that's using bone marrow and cord blood stem cells to treat EB.

No child has been 100% cured with the treatment, but many like Keric are living near normal lives with just a few lingering wounds to care for.

RESEARCH SUMMARY

BACKGROUND: Epidermolysis Bullosa (EB) is a rare genetic disorder that makes the skin so fragile that the slightest friction causes blisters and skin tears due to lack of collagen in the skin. EB is usually noticeable shortly after birth or detected early on in a child's life. If children with EB do not die of infection early on in life, many with the disease do not live beyond their 20s or 30s. EB can lead to an aggressive form of skin cancer. It is estimated that up to 12,000 people in the United States have some form of EB. The eyes, mouth, throat, and other internal organs are also affected by this disease. In some countries, even euthanasia has been considered for newborns with the severest forms. While children will live long term, the severest forms of EB are generally lethal. Until recently there was no treatment and no chance for cure. (SOURCES: www.sciencedaily.com, www.debra.org, www.niams.nih.gov)

SYMPTOMS: The major sign of all forms of EB is fragile skin that blisters. Other symptoms are loss of fingernails and toenails, excessive sweating, difficulty swallowing, and redness of the skin. The skin blistering and tearing can lead to serious complications. Skin cancers can eventually form from the blistering and tearing. EB also occurs internally, and can lead to nutritional problems and many other complications. (SOURCE: www.mayoclinic.com)

CAUSES: Most people with EB have inherited the condition through faulty genes they received from one or both parents. Genes are located in the body's cells and determine inherited traits passed from parent to child. They also govern everybody function, such as the formation of proteins in the skin. More than 10 genes are known to cause the different forms of EB. It's also possible to develop Epidermolysis Bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell. (SOURCE: www.mayoclinic.com)

PREVENTING BLISTERS: In most forms of EB, blisters will form with the slightest pressure or friction. You can help to avoid blistering by keeping rooms at a cool temperature. It is important to apply lubricants to the skin to reduce friction and keep the skin moist. Use soft clothing that requires minimal handling when dressing a child. Avoid carrying a child with EB, especially from under the armpits. Using sheepskin on car seats and other hard surfaces will provide softness for the skin. To help prevent scratching a child can wear mittens at bedtime. (SOURCE: www.mayoclinic.com, www.niams.nih.gov)

NEW TREATMENT: At one time, research on EB was limited to describing the disease and understanding what happens in the layers of skin. Today, research focuses on finding gene mutations and their effect on the tissues, copying genes, reproducing gene mutations for research to correct them, inserting healthy genes to replace missing or mutated genes, and screening those who may have a gene mutation causing EB. University of Minnesota Physician-researchers John E. Wagner, M.D., and Jakub Tolar, M.D., Ph.D., have for the first time used stem cells from bone marrow to repair the skin of patients with a fatal skin disease with EB. "What we have found is that stem cells contained in bone marrow can travel to sites of injured skin, leading to increased production of collagen which is deficient in patients with EB." Tolar was quoted as saying.
(SOURCE: www.niams.nih.gov, www.sciencedaily.com, www.health.umn.edu)


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