EB is rare, with only one diagnosis in every 20,000 live births. It comes as the result of a genetic mutation where babies are born without type VII collagen.
“Type VII collagen is a glue that holds layers of the skin together,” says Doctor Jakub Tolar, M.D., a University of Minnesota pediatric blood and marrow transplant physician who specializes in EB. “So what these children don’t have is the glue or a Velcro kind of attachment that holds the two layers of skin together.”
There are three ways a child can be born with epidermolysis bullosa. If the condition is autosomal dominant where a person has EB, there is a 50 percent chance with each individual pregnancy that the genetic mutation will transfer to their child. Babies can also be born with EB through a chance mutation. The parents would be unaffected, but the children of their child would have a 50 percent chance of also being born with EB.
In Brian’s case, the situation was autosomal recessive – both of Brian’s parents were carriers of the genetic mutation. When two carriers of the recessive gene have a child, there is a 25 percent chance the baby will be born with EB. Brian’s older sister doesn’t have EB but is a carrier of the gene, while Brian has the condition and can pass it along.
There is no cure for EB, but doctors like Tolar are looking for ways to minimize the blistering and improve the quality of life for people with EB. Life with EB means constant pain. EB children have difficulty just walking, and a lot are limited to wheelchairs. “It’s a miserable existence,” says Tolar. “Everything they do revolves around this disease.”
For the past seven years, Tolar has researched ways to replace the missing collagen through bone marrow and stem cell transplants in clinical trials. Healthy cells are taken from donors with functioning type VII collagen and given to patients with EB. Before the transplant can take place, patients must first undergo chemotherapy, otherwise their bodies would reject the new cells.
U.S. Clinical Trials
Patients are given GCSF, a drug that stimulates the production of stem cells and granulocyte white blood cells.
Minnesota University Masonic Caner Research Center
Patients receive a bone marrow transplant from a healthy unaffected donor and are treated with mesenchymal stem cells.
Stanford University School of Medicine
Cell grafts are taken from patients with Recessive Dystrophic Epidermolysis Bullosa. The missing VII collagen of the cells is corrected in a culture and the modified cells are transplanted back onto the patient.
Tolar’s transplants have yielded victories in the EB field. The results of successful transplants can immediately change the lives of children with EB. Their blistering is significantly reduced, and things like sports become possibilities. “They change from an anxious and typically depressed child into somebody who is more like a regular 5-year-old or 10-year-old kid.”
Tolar has treated patients whose ages ranged from nine months to 21 years. The younger patients are, the better they respond to the treatment. “I would love to take him [Brian],” says Arlene about the clinical trials. “I’m just so afraid of it all.”
Brian never had any serious medical complications until a year and a half ago when he developed esophageal strictures because of the internal blistering. It interfered with his ability to eat food, and he choked on everything. “His swallow ability got so bad, he couldn’t even swallow his saliva,” says Arlene.
It took a series of four surgeries and airplane rides to Cincinnati Children’s Hospital to fix Brian’s throat, but he is still considered luckier than some. EB children’s throats and stomach linings can become so heavily scarred and blistered that they require a feeding tube to get nutrients or tracheas to breathe.
There are significantly limited resources available to EB patients beyond the dressing changes, and there are no guarantees with the clinical trial. The results can be fatal. After undergoing the transplant, some of Tolar's patients died of infection and one died from chemotherapy side effects. But progress requires research, and that takes time and money.
“They don’t have 20 years to wait for that magic cure,” says Tolar.
Brian’s mother tries to have Brian in bed by 8 p.m., but because of the dressing changes, she says, it’s “near impossible to get everything done” in time for a curfew. “I’m trying to get him to do reading comprehension at 9 p.m. and the kid’s exhausted,” says Arlene.
Brian’s dressing changes interfere with how the family uses the house. When Brian occupies the bathroom, no one else can use it. He’s colonized with bacteria, and the bathroom has to be completely cleaned and sterilized before and after he’s done to prevent infection between Brian and his family. This tedious pop-up tent treatment method inspired Emerson to take action.
“I want to donate something that’s going to make a difference right now,” says Emerson.
Tiny houses are a money-saving environmentally friendly concept turned movement that had always piqued Emerson’s interest. She attended a workshop by Tumbleweed, a tiny house company and began thinking about building one for Brian. Emerson decided to take the concept and tweak it – most tiny houses are built on trailers, but instead of a tiny house on wheels, she designed the Honey House to function as mobile medical unit. It has cost upwards of $50,000, and Emerson had to do heavy-duty fundraising to get it started.
“There’s nothing I can do from the cure end,” says Emerson, “But there are things we can do from the care end to help Brian’s life.”