Bringing people together is one of the things the National Foundation for Ectodermal Dysplasias (NFED) does best – especially when it comes to advancing ectodermal dysplasias research.
The foundation’s mission is not just about connecting patients and families; it’s about engaging researchers and scientists, and elevating shared enthusiasm about the important questions we’re striving to answer. This is no small feat, given the rarity of these syndromes and the limited existing research.
Putting a Human Face on Science
The Foundation consistently succeeds in humanizing the science and here’s why. We share the stories of our NFED families. We put a human face to the research and show how their efforts transform lives, not just one, but many.
That’s why Ruth Geismar gave the opening remarks at the NFED’s Complex Wounds in Ectodermal Dysplasias Conference at the Children’s Hospital of Philadelphia on November 4-5. In a room filled with more than 22 researchers and young investigators from four countries, NFED staff and board members, Ruth shared her son Ryan’s miraculous story.
A Decade of Care: Ryan’s Journey to Healing
“Ryan was born in 1998, under the expectation of a normal delivery,” Ruth said. “However, our world was turned upside down when, upon his birth, the doctor announced that the baby had a severe rash and further complications, including a cleft palate, missing digits on his toes, and fused eyelids. Ryan was rushed to the neonatal ICU and a geneticist was quickly summoned to help with a diagnosis. By day two, we received the diagnosis of ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, but treatment options were limited. With 70% of Ryan’s skin eroded, we felt lost, scared, and devastated.”
The NFED connected our dermatology experts with Ryan’s care providers to create a treatment protocol where none existed. There was not a dry eye at the conference as Ruth described how caring for these skin erosions became all-encompassing for her young family for the next decade. Round the clock dressing changes, 24/7 care, frequent infections–even life threatening ones–became their new normal. But with time, dedication and innovative care, Ryan slowly began to heal.
Ryan didn’t just survive his significant skin erosions, today, he’s thriving! But, along the way, those wounds caused him and his loved ones immense suffering. Now 25, Ryan attended the Wound Healing Conference with his mom as living proof of what’s possible when great minds and caring hearts come together.
Ruth’s story was a poignant reminder for everyone in the room why they had gathered: to put their brilliance to work for the Ryans of the world. For the next two days, they shared their expertise in brainstorming how these wounds could not only be treated better, but prevented.
Collaborating for Change
Mary Fete, NFED executive director, addressed the importance of this meeting.
“The Wound Healing Conference was a remarkable collaborative effort, uniting some of the world’s brightest minds to tackle a critical challenge faced by a vulnerable population. It’s a true honor for the NFED to contribute to something so impactful and meaningful. I am so grateful for all who made this happen- staff, board members, presenters, Dr. Liao, and our incredible research partner, Maranke Koster.”
A Diverse Group of Experts with a Common Goal
Becky Abbott, NFED’s director of research and treatment advocacy, had spent countless hours reviewing publications and identifying potential participants for the conference.
“We invited incredible participants, patients, clinicians, researchers, and students, from all backgrounds to share their expertise with a common goal,” Becky said. “The discussions were energetic and the action items left me with hope for our community. I’m grateful that the participants sacrificed their time and busy schedules to attend. Our organization is blessed to be able to hold these events that will hopefully lead to life-changing protocols and therapies. Together through these lasting connections we will develop a path forward to help the most vulnerable in our community.”
There was genuine fellowship happening around the tables, over dinner, and even walking throughout the city! Attendees were kind and compassionate, truly curious about the issues and committed to finding solutions.
A Special Thanks: Acknowledging Key Contributors
We especially thank Eric C. Liao, M.D., Ph.D. and Maranke I. Koster, Ph.D. who hosted the conference with us. In a future blog, we’ll share more about our next steps for this critical wound healing research. But, today, we celebrate the people who bravely came together. Like the NFED, they recognize the enormous work ahead of us but are committed to the effort. This research will require significant funding and we will have to be creative and relentless to raise it.
Emotional Connection
At the end of the Conference, Ruth had an emotional moment with a researcher from Italy.
“Daniela Di Girolamo, Ph.D. said she was so moved and touched by Ryan’s story,” Ruth recalled. “Together, we stood there and cried. It was a powerful moment.”
Dr. Di Girolamo works in the lab of Caterina Missero, Ph.D. who also attended.
“I first met Caterina at the very first NFED Skin Erosion Workshop in 2003,” Ruth said. “To see her 20 plus years later, still so invested in this research is a testament to her dedication and commitment in helping these children with severe skin erosions. She and so many of the other attendees are amazing scientists and humans!
I was blown away. It was a truly special, even overwhelming, experience. It makes you feel like there’s good people in the world! – Ruth
New to the NFED staff, it was Greg Klimovitz’s first experience participating in an event of this kind. He was humbled by everyone’s commitment to this rare cause.
“I was deeply moved by the brilliant minds gathered around the table,” Greg said. “They shared their expertise with one another as field experts committed not only to research, but to people. People with names, like Ryan who was listening with all of us. They knew this was deeply human work that required connection and collaboration, innovation and commitment. I was inspired to watch it all unfold in real time.”
Hope for the Future: The Conference’s Lasting Impact
The impact of the conference was clear. For the 40 individuals who attended, it wasn’t just about research; it was about purpose. It was about making a difference.
This international research conference focused on wound healing was the NFED’s third in 24 years, and the new partnerships forged in Philadelphia are a source of hope and promise. The foundation is immensely grateful to every care provider, scientist, researcher, affected individual, and donor who has stepped up to support this critical work for the last two decades.
Collaboration is how we developed treatment protocols that have literally saved lives for children with severe skin erosions. Together, we are closer to a future where children with skin erosions will no longer have to suffer. The magic happens when we come together.
