I’ve mentioned in previous posts that six of us in my family are affected by AEC syndrome, which is one of the ectodermal dysplasias syndromes. The ectodermal dysplasias (ED’s) are a group of approximately 180 heritable disorders that affect the ectoderm, which is the outer layer of tissue of a developing baby. It is estimated that as many as seven in every 10,000 children are born with an ED syndrome.
The ectoderm contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. During embryonic development, these and/or other parts of the baby’s body, including the lens of the eye, parts of the inner ear, the fingers and toes, or nerves, among others, may fail to develop normally.
My family is affected by the AEC Syndrome, formerly called Hay Wells Syndrome. AEC syndrome is short for anklyloblepharon-ectodermal dysplasia-cleft lip and palate syndrome. It is one of several ectodermal dysplasia (ED) syndromes that affect ectoderm as well as structures that do not derive from the ectoderm. While this particular syndrome is extremely rare, there are six cases in my family. My sister, Denyse, and I are both affected, as are our children: Dyllan, Danielle, Delores (Denyse’s kids), and Mister (my son).
Delores at birth. She had a bilateral (both sides) cleft lip and cleft palette.
Danielle, Me, Denyse, and Dyllan in 2003. Obviously, Denyse and I are bald. Dyllan had a cleft lip and palete, which has been repaired.
Delores in 2007. You can see her scalp erosions and cleft lip repair.
Mister in June 2008. You can see the scalp erosions in this picture.
Delores trying to hold Mister. She was 2 in the picture, he was about 7 months. She only outweighed him by a pound and a half.
Delores and Mister at his first birthday party. As you can see, they are buddies. Many kids affected by the Ectodermal Dysplasias struggle with Failure to Gain Weight. Delores is one of them. At two and a half, she is now a whopping 22 pounds 14 ounces. Mister, who just turned one, is 21 pounds 2 ounces.
A couple of years ago, Dyllan, Danielle, Delores, and I were featured in a publication that is aimed at helping kids with ED be adopted when placed in orphanages due to their anomolies. Aren’t we cute?
(—please note, because the publication was distributed internationally, the spelling of Displasia appears different–)
Being affected by a rare disorder is challenging. Fortunately, we have the NFED. The National Foundation for Ectodermal Dysplasias is the authoritative resource for information on the ectodermal dysplasia syndromes. My family has been involved with the NFED since its inception in 1981, as we were among the few families that attended the very first family conference.
The NFED exists to help meet the needs of affected individuals and their families, and to help us find ways to lead a more normal life. What does that really look like?
The Treatment Assistance Program: the NFED provides financial assistance to families for their dental care, wigs, air conditioners, cooling vests or other medical care associated with ED.
The Research Program: the NFED has funded nearly $1 Million in research. In fact, the research that the NFED has helped fund is responsible for isolating the gene that causes the Hay Wells Syndrome (p63) as well as determining the cause of skin erosions in affected individuals. These breakthroughs offer hope for even more effective skin management!
Through the Annual Family Conference, the NFED gives affected individuals an opportunity to meet and network with other affected individuals as well as learn more about the disorder.
The NFED also has a newsletter, called the EDucator, which provides families with current information on research break throughs, treatment breakthroughs, and the like.
In addition to all of this, the NFED also has a scholarship program for affected individuals, to help them pursue college and/or career training. I personally received a scholarship from the NFED that helped me get through nursing school.
Because the NFED has been a part of my life for most of my life, they truly are like family!