National Foundation for Ectodermal Dysplasias

Our mission is to empower and connect people touched by
ectodermal dysplasias through education, support, and research.

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Why You Should Care About the XLHED Research Study

MaryKayeChuckCharleyRichterBy Mary K. Richter

NFED Founder

People often ask me what I think of the research underway using a protein replacement to minimize the effects of hypohidrotic ectodermal dysplasia.  At this point in my life, I realize that my response would change dependent upon the stage of life in which I or my son was.

If he was young, I would suppose I would be somewhat disappointed that the treatment hadn’t come along in time to make a difference for him.  It would be easy to question why one should be excited if you don’t see any personal benefit.  If he was a teenager, I might have an attitude that suggests we’re doing just fine and what difference would it make at this point.  Even if he was an adult, the real ramifications may not seem apparent.

But that of course, all changes when one becomes the grandparent of a child carrying the gene.  All of those old feelings of wishing things were different come flooding back.  The realization of needing to again go through much of the angst is painful.  But this time around, there is one huge change.  As I look at my precious granddaughter, Charley, I know that the protein won’t be helping her but it will be helpful for her to know there are options when she comes to child-bearing age.  That change is enormous and is one that leaves me very hopeful for the future.

The reality is that all of us are interconnected by a gene.  The NFED often talks about being a big family and we really are, not only emotionally but tied together by genes that make that bond more special.  I often say I didn’t know what I was doing when thoughts of a foundation surfaced and if I accomplished anything it would be a miracle.  Now that same opportunity exists for families of childbearing age who can choose to be part of a larger miracle for all of us and for generations to come.

We do not yet know the results of the research taking place and while we are hopeful of a positive outcome, the one thing we do know is that research can only move forward with willing participants.  I am extraordinarily grateful to the families who have already stepped up to the plate.  Your courage and determination humbles all of us.  But more will be needed. 

As I look at little Charley, my prayer remains that the difficulties experienced in past generations will come to an end not only for her but for everyone in the next.

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