How an Ectodermal Dysplasia Diagnosis and Advocacy Expanded Our Family

How an Ectodermal Dysplasia Diagnosis and Advocacy Expanded Our Family
By: Becky Abbott, Director, Treatment and Research Advocacy When my first son Aidan was born, his pediatrician noted that he had leathery skin and dark circles under his eyes. The doctor assured us that he wasn’t worried, and neither were we. I thought Aidan's symptoms were merely common family traits that were passed down. During his first few years, Aidan had severe allergies, continual respiratory illnesses, extremely sensitive skin, and would spike high fevers with ear infections and everyday colds and viruses. Antibiotic prescriptions became routine, as did moisturizer applications several times a day to protect his skin. When he was two, we noticed that most of his teeth weren’t coming in. We received a referral from our dentist to visit Children’s Wisconsin Dental. It was during our first appointment with them that we first heard the term ‘ectodermal dysplasia'. Our next step was a referral for another appointment with Children’s Wisconsin Genetics Center to see a genetic counselor and geneticist to confirm if Aidan did, in fact, have an ectodermal dysplasia. We were so close to an official diagnosis after years of visits to specialists, but our insurance wouldn’t cover the genetic testing. It wasn’t until 2017, when Aidan was twelve that we were able to participate in a study at the National Institutes of Health (NIH) that confirmed that Aidan had X-linked Hypohidrotic Ectodermal Dysplasias (XLHED). From the moment I had first heard the term 'ectodermal dysplasia’, I started doing research. One of the first resources we found was the National Foundation for Ectodermal Dysplasias (NFED). The NFED became my go-to resource for my persistent questions, and I quickly started to rely on them for up-to-date information and support. Our family began to connect with other families through events and online support groups, and we learned more about ectodermal dysplasia from them. The NFED staff and families provided us with suggestions on many topics, one being what type of clothing and sunscreen would help protect Aidan and keep him cool. One of the symptoms of many of the 100+ different types of ectodermal dysplasia is a rare skin condition, so it’s important to always keep the skin healthy to avoid secondary health issues. Discovering UPF 50+ sun protective clothing has been great for our community because it shields UV rays and helps keep the skin cool. Exactly what we needed. Soon after we learned Aidan may have ectodermal dysplasia, we were being denied insurance coverage for medically necessary treatments to treat and repair his oral and dental anomalies. Since Aidan was born missing teeth, he has needed a denture since around the age of five. After repeated insurance denials and setbacks, our family decided we wanted to raise awareness about the issues we were experiencing. In February 2016, we traveled to Washington, D.C. for the first time to share our story. We wanted to educate our legislators and Member of Congress about ectodermal dysplasia, congenital anomalies, and the insurance coverage issues our family, along with many others, were facing. None of the legislators we met with had ever heard of ectodermal dysplasia. Eventually, other families and patient advocates joined us to form a grassroots advocacy campaign and family-driven advocacy committee led by the NFED. After spending time educating our Senator and hearing Aidan’s story, she was inspired to write federal legislation. Our advocacy committee continued to grow, and we garnered more and more bipartisan support for a bill Aidan had the privilege of naming: Ensuring Lasting Smiles Act (ELSA). With this bill we’re working to ensure that everyone born with ectodermal dysplasia and other congenital anomalies will have access to health-insurance-covered medically necessary procedures that are needed to maintain health and overall function, and confident smiles. Each legislator that signs on is a small victory, and we continue to celebrate each one. What started out as a small group of advocates led by a small patient-advocacy group, quickly developed into hundreds of advocates. We have now built a group of over 60 organizations that support ELSA! By the end of 2021, in the middle of the 117th Congress, our bill was one of the most popular bills in the U.S. House of Representatives, which was a big win for all of us! We continue to fight to get ELSA passed through U.S. Congress each year at the NFED’s Advocacy Day on Capitol Hill. If passed, this federal legislation would require private insurance to cover medically necessary services resulting from congenital anomalies.

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