Epidermolysis bullosa (EB) is a rare genetic disorder that causes severe skin blistering, bleeding and sores.
Often called “the worst disease you’ve never heard of,” EB is caused by a mutation in a person’s genetic code. There are many types of EB, but all of them affect the skin and other connective tissue within the body. For a child with EB, even minor friction, contact or trauma can cause the skin’s layers to separate and blister, and eventually scar over. Certain forms of the disease can also affect the lining of the mouth or esophagus, the membranes over the eyes or the digestive tract.
EB is a devastating diagnosis for families. But there is hope. University of Minnesota Masonic Children’s Hospital is an internationally renowned treatment center for children with EB. Here are five things you should know about the EB center at University of Minnesota Masonic Children’s Hospital.
Our EB program is built around the specific needs of EB patients. We bring blood and marrow (BMT) transplant physicians, pediatric dermatologists, genetic counselors, specialized nurses and many other experts together in a “one-stop-shop” clinical setting so families have easy access to care. These experts collaborate to create individualized care plans for each EB patient.
All of the specialists in our center have also developed EB-specific best practices and equipment. For example, if a child is having surgery on the hands to separate fingers that have scarred together (which can occur as a side effect of EB), our team will use special tape, dressings, surgical table covering and other equipment designed to minimize blistering or trauma to the skin.
If a blood and marrow transplant (BMT) is part of the recommended course of treatment, patients can rest assured that University of Minnesota Masonic Children’s Hospital offers one of the nation’s best pediatric BMT programs.
“Our doctors and staff understand the severity of the condition and its impact on the patient’s daily life,” said Pediatric BMT Physician Christen Ebens, MD, MPH. “Everyone at our center approaches EB patient care with a high level of empathy and compassion.”
We understand the complex challenges that children and families face following an EB diagnosis. For that reason, our center employs care coordinators that help families manage appointments, equipment, supplies, medications and other needs. We also provide a range of support services, from physical therapy to pain management to social work.
Patients with EB have high nutritional needs because their bodies are constantly healing the skin. Getting enough calories can be a real challenge—especially if the patient’s EB causes sores that make eating painful, or if scarred hands make self-feeding difficult. Our team has nutritionists who specialize in EB care, to help patients get the nutrition they need.
Our Child-Family Life Services team helps children cope with the stress and anxiety of hospitalization by providing hospital-based activities and play opportunities, including events involving siblings whenever possible. Child-Family Life specialists also help educate families and prepare children for medical procedures. Finally, our children’s hospital offers a range of family-friendly amenities, from the Blythe Brenden-Mann Foundation Wellness Center to special events to Integrative Health programs.
The experts at our EB center are constantly working to advance EB research and make promising new treatments available for patients.
Currently, we are focused on developing therapies for systemic treatment, including stem-cell transplants that replace the missing or damaged protein in a child’s genetic code. We are also exploring gene therapy treatments for EB. During gene therapy, cells are collected from a patient’s body, and then modified to correct the genetic mutation that causes EB. Those cells are then reintroduced into the patient. Our team is also investigating the use of gene-corrected skin grafts or bioprinting technology in EB treatment.
Children with less severe types of EB can also access leading-edge topical treatment studies, said Pediatric Dermatologist Kristen Hook, MD, who specializes in EB skin care.
Our families have formed a tight-knit community to share information and resources with others affected by EB. This network has also been a powerful driver of advocacy efforts and philanthropic support for research. Some of our current and former patient families have chosen to relocate to the Minneapolis-St. Paul region because of access to care and the comfort of being surrounded by other EB patients and families.
Families from around the world visit seek out University of Minnesota Masonic Children’s Hospital for EB treatment. When it is time for our patients and their families to return home, we work with their local physicians and specialists to ensure that patients continue to receive the care they need.
International patients visit University of Minnesota Masonic Children’s Hospital also have access to interpreters, culturally competent care and support as they navigate living in a foreign country while caring for a child living with extensive medical needs.
The program’s international reputation has resulted in a deepening of EB expertise across the hospital.
“One of the benefits of being an international destination for EB care is that all of the referral services, from dental care, to hand therapy, to nutrition, all have deep expertise in EB,” said Pediatric Dermatologist Kristen Hook, MD, who specializes in EB. “Our colleagues in medical specialties across the hospital all have EB-specific knowledge.”