2020 Annual Impact Report
2020 was filled with unprecedented global, health, economic and social challenges. That makes it doubly important that we all pause and look back on some of the great things that we’ve accomplished…with you at our side.
Please join us in a review of NFED’s 2020 achievements!
Our mission is to empower and connect people touched by ectodermal dysplasias through education, support and research.
A Brief History of the National Foundation for Ectodermal Dysplasias
- April 1978 – Charles (Charley) Richter is born to Mary Kaye and Norman. Mary Kaye begins a relentless search to understand why her young son is different than the other infants and struggles with dry skin and an intolerance to the summer heat.
- September 1979 – After being misdiagnosed, blamed for her son’s condition, and told incorrectly that he has brain damage, Mary Kaye learns that Charley has a rare condition called hypohidrotic ectodermal dysplasia (HED). She is determined to help other families identify and learn about this little understood syndrome – and help their own children!
- 1981 – Mary Kaye Richter and 12 other families affected by ectodermal dysplasias establish the National Foundation for Ectodermal Dysplasias (NFED).
- 1987 – The NFED establishes a Treatment Assistance Program (TAP) to help individuals with dental, cooling and hair needs.
- 1993 – The NFED is serving families in 20 different countries.
- 1995 – A Dental Implant Program is launched with support from the L. Marie Heard Bequest.
- 1996 – In a breakthrough moment, the gene for x-linked HED is identified.
- 2000 – The NFED holds its first international Family Conference in the United Kingdom.
- 2005 – The budget reaches $1 million, enabling expanded research and program support.
- 2010 – Mary Kaye Richter retires after nearly 30 years as executive director.
- 2016 – Twins with XLHED are treated in utero with ER-004. Initial results appear promising, indicating the development of functional sweat glands and additional tooth buds.
- 2019 – The third largest Family Conference in NFED’s history held in Chicago with 426 attendees.
- 2020 – The NFED helps two expectant moms travel to Germany to work with Dr. Holm Schneider at the University of Erlangen. There, they receive in-utero ER-004 treatment for their yet-to-be born sons with XLHED. Both boys are born with functional sweat glands.
- 2020 – The U.S. Food and Drug Administration grants Breakthrough Therapy Designation to EspeRare’s protein replacement therapy, ER-004, allowing the treatment to be fast-tracked during development and trials in the United States.
- 2020 – Due to COVID-19, the NFED hosts its first-ever virtual Kays’ Kids Camp.
A Rare Journey
While ectodermal dysplasias are incredibly rare, research shows they actually occur more often than we once realized. Data suggest from 3.5 to 7 of every 10,000 children born are affected by some form of ectodermal dysplasia.
- More than two million are living with an ectodermal dysplasia worldwide, with more than 116,000 in the United States. Many of these individuals have not yet been officially diagnosed.
- There are more than 100 different genetic types of ectodermal dysplasia. Many individuals have yet to identify their specific syndrome.
- Symptoms of ectodermal dysplasias include a combination of two or more anomalies of the hair, nails, sweat glands, teeth and skin.
- Because ectodermal dysplasias are sometimes confused with other less severe conditions, it is often misdiagnosed, misunderstood, and in some cases, goes undiagnosed and untreated.
- Funding for treatment and research is difficult to secure, meaning treatment options are scarce.
“People affected by this rare condition must organize, they must network, they must advocate, and they must drive research. The alternative is to be forgotten and to allow our issues to linger for generations.”– Karl Nelsen, unknown type, parent and NFED Board of Directors President)
Thank You to Our Major Partners!
(annual gift of $20,000 and above)
The Geismar Family
Incontinentia Pigmenti International Foundation
Louis J. and June E. Kay Foundation
The Louis & Gladyce Foster Family Foundation
Brian & Evelyn Randall
The Vora Family
Coming Together in New and Virtual Ways
With COVID-19 surrounding all of us and all of our families throughout 2020, the NFED staff and board put on their thinking caps and got busy! We explored incredible new territory, creating virtual versions of several of our in-person programs.
Kays’ Kids Camp
In July, the NFED went virtual with our first ever online Kays’ Kids Camp.
Every Wednesday in July, Camp Director Aubrey Vora and team offered fun and creative weekly Zoom activities for three age groups: Littles (0-4), Kids (4-11) and Teens (12-17). Kids (of all ages!) enjoyed crafts, scavenger hunts, story times and games. And perhaps most important, they got to see and talk to their NFED conference friends during the interactive sessions.
Aubrey and NFED staffer, Kelley Atchison, were instrumental in making the Virtual Kays’ Kids Camp a success. Now, we all have our sights set on our next in-person Family Conference. We can’t wait to share the latest breakthroughs, help parents make new friends, and watch kids reunite with their buddies face to face!
Virtual Conference Seminars
Also during the month of July, the NFED hosted weekly Conference from Your Couch seminars for our families affected by Goltz syndrome, ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, HED and ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome.
Helping Our Families
Treatment Education, Guidance & Assistance
The NFED is committed that every person with ectodermal dysplasia has the fundamental right to:
- A functional set of teeth – and a smile,
- The ability to keep cool, with air conditioning and cooling vests, and
- A head of hair they can be proud of – just like their friends!
We offer guidance and need-based assistance to families seeking help in providing these for their loved ones.
In 2020, donations to the TAP allowed the NFED to:
- Purchase cooling vests for two young girls affected by ectodermal dysplasia
- Provide genetic testing stipends to five adults and one young boy
- Funding for dentures were awarded to one young adult, one teenage girl and one young boy
The NFED added two new Dental Treatment Centers, bringing our total number of participating centers up to 22:
- Luu Dental Implant and Orthodontic – Monterey Park, California
- general dentistry, prosthodontics, oral surgery, periodontal therapy, orthodontics therapy
- general dentistry, prosthodontics, oral surgery, periodontal therapy, orthodontics therapy
- Georgia Prosthodontics Smile Specialists – Lawrenceville, Georgia
- prosthodontics, restorative dentistry, implant dentistry
“After receiving a quote for over $50,000, I called the National Foundation for Ectodermal Dysplasias (NFED) asking for advice. From Kelley, I received empathetic support and the practical tools I needed to get my journey started.”– Jamie Sommerville, XLHED
A Year of Hope
Dedicated to a Cure
The NFED has funded research studies at more than 40 centers around the world and have sponsored numerous scientific conferences for specific syndromes, classification and therapies. NFED-funded research projects have identified genes for numerous ectodermal dysplasias, established treatment protocols and characterized many of the syndromes.
- $3.6M invested in research since 1987
- 118 research studies and trials
- 1,000+ participants from NFED families
Transforming the Future
With your help, NFED is working to rebuild the future for everyone with ectodermal dysplasias – a future where:
- Infants are born with all of their sweat glands
- Children develop a full set of their own teeth
- We identify female XLHED carriers (a major, unmet need)
- Currently unknown/undiagnosed forms of ectodermal dysplasias are classified
- We advance new skin and corneal tissue regeneration research on AEC and EEC syndromes
“Obtaining the Breakthrough Therapy Designation for ER-004 has been made possible by the efforts of the NFED and the XLHED patient community at large over the last 30 years.”Caroline Kant, CEO of EspeRare
In 2020, Pierre Fabre partnered with EspeRare to begin clinical trials in Europe. Trials are expected to begin in the United States in the near future!
The Incredible Power of One Mom
Can you imagine securing pre-approval for international travel, taking eight COVID tests, and arguing with your local airport security – all so you can travel to Erlangen, Germany in the midst of a worldwide pandemic? That’s exactly what Emily Nelson did last August – with help, travel assistance and much love from her entire family and the NFED!
“So proud of you, Emily, and thankful for NFED and Prof. Dr. Schneider’s work. My nephew is a huge blessing and knowing you were all there to help support and make this a reality is so incredible. Thank you everyone for your continued efforts towards a cure, for my daughters, future grandchildren, nephews and nieces. Thank you!”Kristina Crane, Emily’s sister
Planning on an International Scale
The NFED has established tremendous success in past research conferences and resultant research projects. With your support, we have helped propel:
- In-utero sweat gland growth for infants with XLHED
- Early research into skin of those with p63 forms of ectodermal dysplasias (AEC and EEC syndromes)
- Classification of more than 100 specific types of ectodermal dysplasias
- Better characterized numerous syndromes
- Developed skin care guideline for babies affected by AEC syndrome
- Developed the Ectodermal Dysplasia International Registry
In October 2021, the NFED is holding its largest International Ectodermal Dysplasias Research Conference to help catalyze additional impactful treatments for those affected by ectodermal dysplasias. We are bringing together some of the best scientists from around the world to brainstorm on how to apply the latest scientific advances to our community.
Aptly titled, “Translating Discovery to Therapy,” the NFED’s 2021 conference will serve as a one-of-a-kind worldwide ectodermal dysplasias’ think tank, promoting open discussion and an exchange of ideas among today’s leading researchers and clinicians. This conference is designed to create opportunities and overcome key barriers in treatment and research.
Projects and Potential Future Breakthroughs
- Professor Maranke Koster in North Carolina – continues work to find treatments for people affected by p63 syndromes such as AEC syndrome and EEC syndrome. Nineteen individuals have provided skin biopsies for her study to develop a treatment using stem cells to treat skin erosions.
- Richard A. Lewis, M.D., M.S. at Baylor College of Medicine – helping individuals/families identify the specific ectodermal dysplasia syndrome affecting them.
- Dr. Angus Clark at Cardiff and Vale University – “Development of Non-invasive Prenatal Diagnosis (NIPD) Assay for X-linked Hypohidrotic Ectodermal Dysplasia (XHED)”
- Tim Houser, M.S. at cyberDerm, Inc. – “Dynamic Capacitance Imaging of Sweat Gland Distribution and Activity”
Knowledge is Power!
Helping Our Families Understand Ectodermal Dysplasias
The NFED stands with open arms to welcome families who have just been diagnosed, to answer their questions, to point them toward resources, and to help calm their fears. We provide individuals and families affected by ectodermal dysplasia with a place to turn for reliable information, support, a peer network, and hope. Our website and publications empower individuals and families with facts and experience-based knowledge that even their doctors often cannot provide.
In 2020, the NFED offered bi-monthly webinars dedicated to helping families better understand the ins and outs of living with ectodermal dysplasia.
- How to File Your Ectodermal Dysplasia Insurance Claims Like a Pro
- Find Answers to Your Most Pressing Health Concerns Caused by Ectodermal Dysplasias
- How to Treat Nasal Rocks, Ear Wax and Other ENT Issues
- Ectodermal Dysplasias 101: Learn About Different Types and How They Can Affect Your Body
- Learn How New XLHED Clinical Trial Could Affect Future Generations of Your Family
- Ectodermal Dysplasia: How to Treat Your Skin, Hair and Nail Symptoms
Fighting for a Smile
Advocacy and the Ensuring Lasting Smiles Act (ELSA)
- Requires that medical insurance policies cover the medically necessary treatments due to congenital anomalies, such as dental treatment associated with ectodermal dysplasias.
- Eliminates fighting with the insurance company and the long string of denials!
- Ensures that necessary treatments can no longer be classified as “cosmetic.”
- Families no longer need to decide if their child gets a full set of teeth or a college education.
2020 Virtual Advocacy Day on Capitol Hill – June 24
- 568 advocates representing 49 states plus Washington, D.C.
- 2020 Bill Leads: Senator Tammy Baldwin (D-WI), Senator Joni Ernst (R-IA), Congressman Collin Peterson (D-MN) and Congressman Denver Riggleman (R-VA)
- Co-sponsors: 53 co-sponsors in the U.S. Senate and 313 co-sponsors in the U.S. House of Representatives
Volunteering in a Pandemic
- In 2020, approximately 400 volunteers generously contributed their time to help the NFED serve our children and families.
- In total, volunteers logged in about 5,000 hours. That’s pretty amazing considering we were in the midst of a pandemic!
- Families from across the United States hosted local events (many virtual) to raise money and awareness for the NFED.
Meet some of NFED’s 2020 Family Fundraising Heroes
- Alex Super Smiles, OH (virtual) – The Carroll family in honor of Alex Carroll
- Blue Jean Days, IL – The Kluzek family in honor of Christina Kluzek
- Fishing Trip, TX – The Walker – Reed family in honor of the Randi Walker family
- Halloween Bash – Hosts, Keith and Ruth Geismar and Bruce and Alice Geismar – in honor of all those affected by ectodermal dysplasias and Ryan Geismar
- Minnetonka 5K – Hosts, Karl and Nancy Nelsen and Tyler and Erin Nawrocki – in honor of Sammi Nelsen and Ava Nawrocki
- Nikko for NFED Quilt (virtual) – The Reidenouer – Vecchini family in honor of Nikko Vecchini
- Sweat It Out, SC (virtual) – The Duke family in honor of Nicholas Duke
To learn more about NFED Family Fundraising, contact Lea Richardson at 618-566-6875 or firstname.lastname@example.org.Volunteer
TOTAL INCOME: $1,378,514
Gain on Extinguishment: $77,200
Sales, In-Kind, Misc: $40,970
Special Event Registrations: $33,475
TOTAL EXPENSES: $784,961
Family Support: $300,233
* Data from NFED’s 2020 Audited Financial Statements
Together, WE are the NFED!
The NFED is made up of more than 10,000 individuals, families, medical and educational professionals, and organizations determined to bring awareness, support, treatment, hope and answers to all those affected by ectodermal dysplasias worldwide.
Your gift gives a child with ectodermal dysplasia the ability to say “Yes!” to life. To contribute to the NFED, donate now.Donate