Forever Forward! Marching Toward A Cure

Page 6

Why Do We Climb? To Reach Our Hopes & Dreams! Ever wonder what it takes to achieve a breakthrough? Research is complicated. It’s expensive. It takes years of hard work and requires countless small steps — some forward and some back. But from beginning to end, it’s these small steps that can become breakthrough results. And this is what can change lives!

Will you march with us?

Nick Duttle, XLHED, climbs at the New River Gorge, WV.

We are determined to change lives, now and in the future… but to do it, we need your help. Will you support these important life-changing research projects? •W orking Sweat Glands and Teeth — Our XLHED project is showing us the incredible promise of in-utero replacement of missing structural proteins with their synthetic counterparts. When done at precisely the right time, this can support appropriate ectodermal structural development. We hope that this breakthrough technique might open doors for other ectodermal dysplasias. •H ealthy, New Skin — With support from the NFED, Drs. Maranke I. Koster and Peter J. Koch made an important discovery regarding skin and eye abnormalities in patients with ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Using a cellular tissue growth technique, they are hoping to harness each patient’s own stem cells to generate new, healthy skin tissue, theoretically preventing tissue rejection and fostering more permanent skin. •E ye Health… for a Lifetime — Similarly, Dr. Koster hopes that the cellular tissue growth technique might eventually be used to prevent corneal abrasions in the eyes of p63 patients.

• Research Needed for Incontinentia Pigmenti — IP can be devastating; some of the most serious challenges include major structural and developmental impact to the eyes and neurological system. Diagnosis is important but challenging. We must advance early diagnosis, treatments and cures so babies affected with this syndrome can live long and healthy lives. •F amily Guidance and Assistance — We will strive to provide support to our individuals and families, such as access to genetic testing, access to key clinical trials in the United States and abroad, diagnostic guidelines for Goltz patients, treatment and care protocols developed during our research conferences such as skin care recommendations for p63 patients, and much more. •W ider, Consistent Knowledge — We continue our ongoing goal to identify the many yet unknown forms of ectodermal dysplasia. Individuals and families tell us how frustrating it is to not have a diagnosis — and the importance of being able to name their condition and more confidently manage and take control of their health — and of their future. • International Research Conference — In 2021, the NFED is planning to hold its largest international conference in the United States. There, we will discuss recent discoveries, new treatment ideas, and current projects. We will explore cutting-edge research, present state-of-the-art treatments, and explore the NFED research agenda for the next 10 years.

“I dream of a world where no child is born with severe skin erosion and does not have to face the threat of ongoing skin infections and dressing changes.” — Ruth Geismar, mother of Ryan, AEC