Stem cells may be Folsom toddler's best hope against deadly skin disease

Far from home, Lonni Mooreland has been cuddling her 9-month-old daughter a little more. Smelling her baby's hair. Feeling, deep in the pit of her stomach, how fleeting that baby scent might be.

On Friday, Lonni and Jay Mooreland learned that researchers had judged their daughter healthy enough to undergo an experimental treatment that could save her from an excruciating disease – or kill her.

The Folsom family has been in Minneapolis for two weeks, preparing for daughter Sarah to become the third child in the world to get a bone marrow transplant that might cure a rare disease called epidermolysis bullosa.

Their doctor was blunt. The transplant itself can be lethal somewhere between 8 percent and 20 percent of the time.

"It is very scary," Lonni Mooreland said. "You weigh that vs. a lifetime of pain, to die in her teens or early 20s from skin cancer or something else."

Epidermolysis bullosa, or EB, is the latest in a string of once incurable diseases that could be yielding ground to the stem cells contained in bone marrow, umbilical cord blood or elsewhere in the body.

Bone marrow transplants, once primarily used in cancer treatment, have cured sickle cell anemia and other genetic disorders.

Stem cells from marrow and cord blood are being used or considered for a wide range of inborn errors, when the complex mechanics that maintain the human body miss a step, with shattering consequences.

In the recessive dystrophic form of EB that Sarah Mooreland has, what's missing is the ability to produce collagen type VII. That's a protein that helps form the little anchors that attach the upper layer of skin to the one beneath it.

Without those anchors between epidermis and dermis, the skin simply rubs away. At the slightest friction, skin sloughs off the body. Internally, linings of the mouth, stomach and intestines can blister and erode.

"This is one of the worst diseases I've ever seen," said Dr. John Wagner, head of clinical research at the University of Minnesota's stem cell institute. "It's painful. It's scar-forming. If you would see pictures of 17- and 18-year-olds, you would be horrified."

There are kinder versions, but Sarah Mooreland's form of EB turns the body into a mass of painful wounds. Children must be wrapped and bandaged, but still they blister. Toes and fingers fuse together. The scarring skin contracts around joints. Digestion is so badly disabled that a teenager can weigh 50 pounds.

If they outlast malnutrition and infection, people with this variant of EB die in their teens or 20s of skin cancer triggered by the constant cellular breakdown and repair.

At the University of Minnesota, a research review committee agreed the disease is so virulent it merits a dangerous counterattack – even in a little girl whose kidneys already are impaired.

The committee met Thursday to wrestle with whether Sarah Mooreland is healthy enough to undergo a transplant. Her own bone marrow will have to be killed with chemotherapy before she can get new marrow from her brother, a well-matched donor. But kidney problems unrelated to her EB have left her with roughly half of normal kidney function, potentially making the chemo riskier.

Wagner and the Moorelands got the answer Friday. Go ahead.

Sarah Mooreland will get a bone marrow transplant with a twist.

Bone marrow can be filtered to optimize the types of stem cells needed to treat certain diseases. Based on work his colleagues did in mice, Wagner believes the standard filtration would not work, because it would screen out whatever seems to help the body make collagen VII. So, he is doing very little treatment on the bone marrow before transferring it.

Wagner is cryptic about the details because he wants his work to be peer reviewed and published, and scholarly journals frown on having data discussed first in a newspaper.

"This is not the way we normally do things," said Wagner. "I typically communicate to the medical community first, then the families hear about it."

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