Nine-year-old Zuzia Macheta pretends she is a ballerina, tiptoeing around in a frilly pink skirt and doing something she has longed to do her entire life—showing off her tights.
Born with a devastating skin disease called epidermolysis bullosa (EB), Zuzia was unable to wear tights—something most little girls take for granted—until recently, because her skin would come off when she tried to remove them.
Pediatric Blood and Marrow Transplant Physician Jakub Tolar, MD, PhD, describes EB as “the worst disease you’ve never heard of.” The rare condition affects about 1 in 20,000 babies in the United States. It occurs when a child is born missing a protein in his or her genetic code. Without the protein, the child’s skin blisters and tears from even minor friction, contact or trauma.
EB also affects some of the body’s internal tissues, such as the mucosal linings in the mouth and esophagus, making eating extremely painful. In addition, people with EB run the perpetual risk of infection and, over time, become predisposed to skin cancer. The most severe forms of the disease can be fatal.
Sylwia Macheta, Zuzia’s mother, recalls a day back in their native Poland when Zuzia fell and badly injured her knees. Zuzia cried out, asking why she couldn’t run like other kids without suffering.
“That was the moment I told myself I would do everything in my power to help her,” Sylwia said through a translator. “And I was able to keep my word.”
Through social media, the Machetas learned about a clinical trial at University of Minnesota Masonic Children’s Hospital, under Tolar’s direction, that offers a chance for a cure. Masonic Children’s Hospital is the only place in the world where a cure-focused EB therapy is available. Other treatments focus on bandaging to prevent infection.
Then they learned that the travel and treatment would cost about $1.5 million. The Machetas set a goal of raising the money within two years.
As part of their fundraising campaign, Zuzia’s parents allowed her to go on television and tell her story.
Sylwia recalls the moment well. “And she said, and this is a direct quote: ‘There is a doctor in America. He is magical. He has a way to treat kids like me. He can give me new skin.’”
Within 55 days, the family had met their goal.
At the University of Minnesota, health research and patient care often intersect. Healthcare professionals identify a need in the clinic or hospital, then research scientists set to work on solving the problem. In this case, a parent’s plea a decade ago to help her children who were suffering from EB prompted Tolar and his colleagues to start looking for a cure. The mother sought out the team because of their expertise in bone marrow transplantation.
What Tolar and his colleagues discovered after about a year and a half of experimentation was revolutionary: Bone marrow transplantation, used primarily to treat blood cancers originating in the bone marrow itself, could help people with a disease in a completely different organ—the skin.
“This had never been done before,” said Tolar, who directs the University of Minnesota’s Stem Cell Institute. “I didn’t know it at the time we started this research 10 years ago, but it opened a totally new field in transplantation biology.”
This breakthrough builds on a legacy of innovation in blood and marrow transplantation at the University of Minnesota, where the world’s first successful bone marrow transplant was performed in 1968.
“It’s important not to see this as a one-off,” Tolar says. “It’s not. It’s really a continuation of what this place is about and how deep we go in traditions.”
The EB treatment is part of an early-phase clinical trial, but it’s also considered the standard of care because there are no other cure-focused alternatives.
“The individuals who have EB, they don’t have an option,” said Tolar. “They are like my kids with leukemia: if you don’t do something, they die.”
About 30 kids have participated in the clinical trial so far, and Tolar and his team have tweaked the protocol four times.
“We have learned from every single kid who has been transplanted,” he said.
Zuzia Macheta is the first participant in the most recent phase of the treatment study, which involves receiving a bone marrow transplant from a half-matched donor like a sibling or parent. In this case, Zuzia’s younger sister, Ala, served as a donor. The trial also involves three infusions of special “nurturing” stem cells after the transplant is completed.
“The plan is that they will rebuild the skin and the mucosal lining much better than the [bone marrow] transplant alone,” Tolar said.
The treatment is technologically intricate and expensive. However, a gift from the Richard M. Schulze Family Foundation has made it available to kids like Zuzia. Tolar said the flexibility philanthropic support provides is crucial to being able to explore new ideas and change protocols based on evidence in real time.
Life is much better for Zuzia today. Before her transplant, wounds covered her legs from her mid-thighs to her ankles—which is why she couldn’t wear tights. Today, she’ll proudly show her new skin to anyone. Changing her bandages used to take 90 minutes; now it takes 15 minutes to cover the remaining unhealed skin.
Before, she could never fully bath because contact with the water caused excruciating pain. Now, Zuzia takes baths and likes trying out new scented soaps. She also hated the rain because raindrops hitting her fragile skin could cause harm.
“Now she likes rain and describes it as being tickled,” her mother said.
What’s more, Zuzia and 7-year-old Ala can now tickle, tackle, and hug each other freely.
“Ala was always told to be careful. Now they jump from bed to bed, they run, they horseplay,” Sylwia said. “I still catch myself repeating the old warnings—be careful, don’t run, you can hurt yourself—and she says, ‘Mom, it’s after the transplant. My skin is good now.’”
“Dr. Tolar, his gift to us was normalcy.”