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!
Virginia, thank you so very much for sharing your story. I read this from top to bottom–and learned quite a bit about ED (I can’t spell it!!). I’m copying the pallet now and will have something to contribute to the NFED collab. ~Stacey (Pretty Scrappy)
Jeanette Bollinger says
I would be honored to be able to contribute to this kit! I have a son with special needs, so I know how important these types of fundraising efforts are! I will get started ASAP!
Jeanette (Jeanette Bollinger Designs @ Stone Accents Studio)
Thank you for your message on my blog. I would be happy to contribute to the kit for such a worthy cause. I’ll get started on it after Christmas and send my contribution when it’s done. I wish you so much luck with this collab kit and I am sure it will be an enormous success.
Hugs, Vicki xx
Linda Walton aka bobbysgirlforever says
I am over from Vicki’s (A Work in Progress) blog and would be MOST honored to help the NFED Charity Collab by contributing to the *Lifting Hopes* kit!
I will also try to post about this on my blog later tonight.
Thank you SO much for sharing so much information so as to help educate all of us on ED’s.
Wishing you and your PRECIOUS family a VERY Merry Christmas Virginia!
Snowsmoon's Design says
I would be honored to donate a kit to this. I will contact the above right way. And post it on my blog to invite others as well.
Dawn aka Snowsmoon’s Design
Hi! Just finished reading your post and I would be very happy – and honored – to take part and contribute to the kit. I’ll be contacting you on your yahoo address.
May you and yours have a wonderful holiday season.
I too would be honored to contribute to this kit. I will send you an e-mail with all my information.
Thanks again and have a wonderful Christmas!
I am not a designer, but I do have a son with an isolated bilateral cleft lip and palate, so am aware of the challenges around craniofacial differences, as well asl copign with surgeries, and the whole host of other issues. I just wanted to say I think it is great that you are doing this collab kit. I just found digital scrapbookign a couple o fmonths ago – give me some time and I may start designing but not yet. I’ll definitely be watching for that collab when it comes out!
Hi Virginia, I have just come from Vicki’s blog to see if I can help too. What a wonderful idea a collab kit is and I would certainly love to contribute.
Hi Virginia! I would love to take part in this collab. Thank you so much for sharing your family’s story with us!
Hi Virginia, my heart goes out to you all..thank you so much for making us aware of ED..
I only just saw the message on MD Forum so emailed you straight away, you should have it now.
Hugs – Linda
Hello. I was researching my sons condition on the internet and came across your website. My son has Hay-wells syndrome. I was wondering if I could ask you a few q
sam johnston says
Have only just come across this site. I have an 8 yr old daughter with haywells and could have passed as a twin to your delores a few years ago. Same blonde sparse hair flat nose and we have to this day thought Gabbi just had an enviable body figure. I didn’t realise that being skinny and yes you would understand, i don’t just mean thin, was one more of the many symptoms. I would love to share more experiences. Just as a general, we have no prior history of haywells in the family, so gabbi was a huge shock but one that has made our family complete. would love to hear from you. cheers sam j