The ectodermal dysplasias (ED’s) are a group of approximately 150 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 Hay Wells Syndrome. The Hay-Wells Syndrome (HWS), also known as the anklyloblepharon-ectodermal dysplasia-cleft lip and palatesyndrome, 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 (fewer than 200 known cases) 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 Zane (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 palette, which has been repaired.
Delores in 2007. You can see her scalp erosions and cleft lip repair.
Zane in June 2008. You can see the scalp erosions in this picture.
Delores trying to hold Zane. She was 2 in the picture, he was about 7 months. She only outweighed him by a pound and a half.
Delores and Zane at Zane’s 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. Zane, 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.
So, how can we help the NFED?
Casey, the store owner at Pretty Scrappy, has agreed to host a charity collab kit. I am asking designers to join with me to create a charity collab kit to benefit the NFED.
Theme- Hope. The NFED logo is a hot air balloon, so anything that flies (hot air balloons, airplanes, helicopters, birds, etc) with a cheerful feel.
Kit Name- Lifting Hopes
Colors- Get the palette here: Lifting Hopes Color Palette
Due Date: 01/20/2009. The kit will be sold in February 2009, to coincide with National Ectodermal Dysplasia Awareness month. Kit proceeds will be donated to the NFED.
What do you need to do: Submit 3 papers (or more) and 5 elements (or more). Please do not create multiple re-colors (copies of the same item in different colors). Choose only one (at max, two) colors for each item. Each paper should be textured.
Alphas count as one. Items submitted must be Scrap 4 Hire (S4H) friendly, as Pretty Scrappy only sells S4H and/or CU products.
PLEASE– Please use this to name your files KitName_DesignerNameorIntials_productname. For example…. my file names would look like this: LiftingHopes_lvd_paper001, etc, etc.
If you would like to participate, please let me know. Then create your contribution, zip it up, upload it to a file sharing site (such as 4shared, Mediafire, or Rapidshare) and send me the link(s). Once I have received your files, I will let you know so that you can remove the link(s). I will be compiling the files for the collab and files will be QC’d by Scrappy Shannon. Collab previews will be done, so you do not have to create an individual preview.
I am really looking forward to being able to give back, and with your help, I know we can make a difference. We can lift hopes for the future!
Thanks so much.
Lady V dZine