Born This Way

Suzanne Brown ignored her painful eyes for years, always thinking, “I’m fine.”  But she wasn’t fine.  In 2017, she noticed that she was going to bed earlier in the evening because “my eyes were done.” Affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, Suzanne found a treatment that changed her life.

A Cause Worth Fighting For!

Jeanne Wang wanted to give back to the organization that helped her when her son was diagnosed with a rare syndrome called EEC. She quickly found that education and raising awareness empowered her!

Important Discovery Made in AEC and EEC Research

By Maranke I. Koster, Ph.D. and Peter J. Koch, Ph.D., University of Colorado School of Medicine Since our last research update, we have been hard at work to understand the basis for skin and eye abnormalities that occur in patients affected by anykyloblepharon-ectodermal defects-clefting (AEC) syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. These two ectodermal dysplasias are caused…

A Treatment for Corneal Erosions in EEC?

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…

We are Family! My Brothers, Sisters and Me!

By Chris and DeAnn Huxman In 2001, our second son, Tyler, was born with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. We had never heard of EEC, had no information about it, and had no idea what the future would hold.  We didn’t know where to turn or where to find information. While searching the web for anything about EEC,…

Sharing the Excitement of Research

By Maranke Koster, Ph. D. I first became aware of the NFED, and of ectodermal dysplasias, while investigating the role of a gene by the name of p63. The striking similarities between mice lacking a functional p63 gene and individuals affected by ectodermal dysplasias suggested a role for p63 in these disorders. Sure enough, it…