Advocacy

By Beth Orchard

I was told from an early age, I had the disorder, yet I was not diagnosed until my early thirties with x-linked hypohidrotic ectodermal dysplasia (XLHED). Being a young child with differences in my teeth, hair and skin (including lack of sweat glands) made me overly self-conscious. I was picked on and made fun.

The National Foundation for Ectodermal Dysplasias (NFED) was barely in the inception stages at that point. Not much was known then nor did we really know anyone else who had it.  I did meet a young boy at the University of Minnesota when I was taken for an evaluation. I remember my parents telling me he was more affected than I was and that I was pretty “lucky.”

Throughout my adulthood, I carried this notion that I had a foot in two worlds. One was with a group of people I did not know yet and the other was everyone else I interacted with on a daily basis. Once I was settled in Chicago, I decided to attend my first NFED Family Conference in West Virginia.

Everything shifted gears at that point when I realized that I was “just like” so many other people there, yet I was still different in that I did not look like some of the women. I had a full head of my own hair and sparse body hair. My sweat glands work enough to work out and do things outside (with limitations) but did not experience the full spectrum of issues many women faced. I was also missing a lot of teeth for which I was just starting my dental journey.

My Dental Journey

To make a long story short, I began my dental work in my late twenties and finished just before I got pregnant in the summer of 2014. It took nearly seven years of braces, dental implants, bone grafts and other work to complete my smile. I tailored which jobs I took based on how much time I could get off to do my dental work including vacation, sick and regular time off. I was also able through insurance and a lot of support from the NFED and my doctor at University of Illinois, Chicago (UIC) to get full coverage for my dental work. That is a story in itself!

The fullest part of my story has extended now into the birth of my son, Liam. We called him Little Pea before we knew what we were having and he was just as tiny as a little pea. As he grew, we decided to participate in the Newborn XLHED Clinical Trial  to dose babies with a protein that might help them grow sweat glands and teeth. There were no guarantees but we knew it may help Liam. If nothing else, it could help other children or even his kids down the road.

Our Son

My son was born in February 2015 and we went to St. Louis the following week to admit him into the NICU and participate in the clinical trial for three weeks. It was the toughest part of my life so far, having to leave my son in NICU. He was in very capable hands but I was a new mom.  I was barely able to comprehend the immensity of the grace, beauty and significance of his arrival.  Yet, he was attached to wires and machines to be monitored for the clinical trial.

Through it all, he came out just fine and our family was even stronger for it in the end. The NFED family came from their office to visit us.

I remember the biggest hugs and tears from Jodi, Lea and Mary.  The comforted me through a difficult time when Liam was not gaining weight (common for kids with XLHED). They never waivered in their love and support of our family as we went through the challenges of the trial. We met another family whose son was dosed the year prior and the team at Edimer Pharmaceuticals was beyond phenomenal. My only regret is I was not able to be part of the clinical trial in the Paris, France location.

Having XLHED

Having XLHED for me, and now my son, means that we are different. We are unique and we are beautiful in that uniqueness. Being part of the NFED family has meant lots of time spent advocating, raising money and providing support for others through the ups and downs having a genetic disorder brings. As I type this, I am awaiting the birth of our second child this summer. We are not worried about whether he or she will be affected by XLHED or any other condition.

XLHED has taught us to take life as it comes, one step at a time.  We practice presence, grace and humility in the face of adversity.  We are truly blessed to be part of this intimate, beautiful family.

The reason we are sharing our story is so that others will understand why we raise awareness and money to support the Foundation. They are working hard to get legislators to help provide dental coverage for genetic conditions. My hope is my son will be able to get his smile and not fight with insurance companies. We know with the NFED family by our side anything is possible!