Corneal abnormalities are a major clinical issue encountered by patients affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. EEC is caused by dominant mutations in the p63 gene, meaning that EEC patients have one copy of the normal p63 gene and one copy of the mutant p63 gene. It has been suspected that removing the mutant p63…
A Lighthouse to Guide our Lifeboat
By Jenny Steele Three years ago, we heard the term ectodermal dysplasia for the first time. An internet search introduced us to the NFED. With a few clicks of the mouse, we found a wealth of information and a community of people who understood what we were facing. The NFED family would become a lighthouse…
EEC Chick at Work
By Heather McKelvie I volunteer for the NFED because I want to be part of something that is bigger than myself. When I was growing up, I secretly hoped that someone I knew would have a child with EEC, or at the very least, with a cleft lip and palate, or ectrodactyly. I imagined that…
Top 10 Reasons to go to Family Conference
10. Be inspired or be inspiring! 9. Have an experience you will never forget, like dancing Gangnam Style on stage with all your friends. 8. Meet the family liaisons and enjoy their opening ceremony antics! 7. Meet the NFED staff in person! 6. Show off your talents during the talent show! 5. Learn new ways to care for…
Together, We Will and Can Make a Difference!
By Julie Claeys When our son, Carver, was diagnosed in 1995 with hypohidrotic ectodermal dysplasia (HED) at just four months old, we found the NFED. I remember talking with Beverly from the foundation and her peaceful, calming voice assured me that they were there for us. It wasn’t long before I found myself selling raffle…
Cool Activities for a Hot Summer
Summer time is upon us and that means there will be some incredibly hot days. For those of us that can’t sweat properly, it’s especially important to have some cool activities for those hot summer days. We allowed Mister, our 6 year old that is affected by Hay Wells Syndrome, to join the swim team. …