In 2022, I gave birth to my first child, a beautiful little girl named Nola. I’ve always wanted to be a mom, and my dreams came true that day! Upon her birth, the nurses whispered amongst themselves and nervously looked over their shoulders at me as they cleaned her up and took initial vitals before bringing her to me to hold for the first time. She was born with terrible sores on both ankles, with her feet turned in so much that they suspected clubbed feet. I am a very calm person in the face of stress and was able to calmly assess the incredible situation before me. Having no idea what we were up against, I allowed the medical staff to bandage her feet as best they could. They said they’d never seen anything like it before. They were terrified that I would not take it well and relieved when I was calm and allowed them to do their jobs.
From there, it was a whirlwind of doctor visits and hospital trips for the first few months of her life—several times a week—with three different doctors: an ostomy nurse who was an absolute angel in helping us navigate healing our daughter’s feet; an orthopedic surgeon to assess the possibly clubbed feet; and a plastic surgeon to supervise the process and heal the scarring. When she was about 6–8 months old, we were able to stop seeing these doctors due to her being healed enough that they felt we no longer needed them, and she was cleared of the possibility of clubbed feet. Her scarring is existent but minimal. We still did not know the cause.
She began walking the week she turned a year old and has so far been a normal, rough-and-tumble toddler. When my son, Enzo, was born 15 months after my daughter, he had the same terrifying sore on one of his feet! We were immediately filled with fear and grief as we realized it was not some freak accident that my daughter had been born that way—now we had a second. This time was different. The nurses were not afraid or taken off guard. They seemed prepared, almost. They bandaged his foot, and the process began again. This time, a pediatric dermatologist was called in. She took one look and declared her suspicions of EB, ordering a test for him. It was explained to us—two now terrified parents—with the caseload of information that had been dropped on us.
We took our son home to care for these sores again. We cleaned and managed and bandaged the wound just as we had 15 months before, crying over our child’s screams of pain that a newborn should not have. The test came back positive, and our journey began. Enzo were diagnosed with Dominant Dystrophic EB (DDEB). More doctors—the same ones—who, oddly enough, were now familiar with EB as well. It was almost as if our daughter’s case raised flags for them to do research on the condition to improve their ability to provide care, only to meet it again from the same parents.
My daughter and I were tested, and of course, she is positive—but so am I. I am the carrier. My heart was crushed. I’ve lived my whole life with no signs or issues—or so I thought. I learned that my seemingly medical anomalies and mystery acid reflux were all caused by EB! My son is now 4 months old, and his sore is healed. We are now working to minimize his scarring. We were somehow blessed that their skin is not so affected that they blister with any pressure. They seemingly have no new blisters once healed from birth.
I grew up with what doctors called “stress-induced acid reflux,” being told by doctors that I was being dramatic and forcing myself to vomit for attention. It turns out it was directly caused by my undiagnosed EB. Upon my daughter’s birth, no one knew what it was. Only one doctor had ever seen it before but did not know what it was. We spent months treating her wounds as “burns,” knowing very well they were not burns at all but having no idea where to start otherwise
We face the unknown of the future. Just because my kids don’t break out in sores and blisters with any pressure now doesn’t mean they can’t or won’t in the future, and we don’t know if or when they will ever be affected.
- Niki, Mom to Nola & Enzo
