Noah Miller battles the painful reality of AEC syndrome, bravely adapting to daily challenges most children take for granted.
Six-year-old Noah Miller just wants to play. He wants to climb the ladder on the slide at the park, swing a baseball bat like his older brothers, or walk the family dog. But doing any of those things can cause the skin on his hands to crack, bleed, and become infected, taking months to heal.
Noah was born with ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome. AEC is one of approximately 50 types of ectodermal dysplasia. His father, Brian, sadly recalled how shocking Noah’s skin looked when he was born. It was bright red, raw, and weepy on his head, chest, and buttocks. He looked like a burn victim.
Doctors quickly discovered other signs of AEC: his eyelids were fused shut, he had a cleft palate, abnormal nails, and later, severe hearing loss and bladder issues. He has only developed three small teeth. However, the fragility of his skin remains the biggest hurdle.
The threat of infection was real and potentially life-threatening in his first years of life, since the skin was missing on a large part of his body.
A long journey
Brian, a former EMT, became Noah’s full-time caregiver. Together with his wife, Jessica, the Millers have spent six years managing painful wounds, infection risks, and ongoing medical appointments. Noah sees a team of specialists to monitor and treat his skin, hearing, and other health concerns.
He was three years old when his head and chest healed, but then, the skin on his hands broke down and has been a problem ever since.
“He got what looked like a mosquito bite, but it was a skin erosion on his finger when he was about three,” Brian said. “When that erosion appeared, the skin started to slough off and moved to all 10 fingers and spots all over his hands. It was to the point where it was almost like the skin was just pulled off.”
They tried numerous kinds of bandages, creams, ointments, and courses of antibiotics to manage and prevent the wounds and keep him infection-free. However, it was often trial and error. Last October, Noah’s doctors agreed to Brian’s request to try long-term antibiotics. Brian says the skin is finally healing, but it’s very slow. The concerned parents don’t know how long he can stay on that regimen.
Holding out hope for the future
The skin fragility makes everyday tasks, like holding a pencil, fork, or toy, difficult. The wounds can still easily cause his hands to bleed. Despite this, Noah is a bright, funny, and thoughtful kindergartener attending a school for the deaf, where he’s learning to communicate using sign language. But even that comes with pain.
Noah is determined to keep up with his older siblings, who love sports and outdoor activities. He’s learned to catch a football using his arms and adapts to activities as best he can. However, many things, like skipping a rock or crossing the monkey bars, simply are not possible — yet. The Millers remain hopeful that with time and the right treatment, his skin will finally heal. The National Foundation for Ectodermal Dysplasias (NFED) has led research into AEC for more than two decades. The goal is to better understand skin fragility and develop targeted treatments. Our team of dermatology experts has an established treatment protocol that has helped save lives. Our hope is that we can determine a way to not just treat the wounds but prevent them. No child with AEC, like Noah, should have to endure this kind of pain and health issue.
