The Numbers

Today, I thought I'd share an interesting little graph that I found that shows the frequency of incontinentia pigmenti have been recorded in various states in America from 1865 to 2009.

Obviously, for this specific type of ED there really aren't many cases that are seen. But for ectodermal dysplasias in general, there are said to be about seven cases for every ten thousand births internationally. This includes about one hundred and fifty different kinds of ectodermal dysplasias and doesn't include those that are misdiagnosed or never diagnosed at all. There can even be individuals diagnosed with ectodermal dysplasia- type unknown because of the fact that they don't seem to fall cleanly into one type of dysplasia. That is one of the reasons dealing with ED can be so difficult- there are so many symptoms and so many types that it can frankly be quite overwhelming.

Lucky

To specify, the type of ectodermal dysplasia that I have is called incontinentia pigmenti. The frequency of this particular kind of E.D. is unknown and is really just specified as rare. In my case, my dentist was the one who diagnosed me (kind of weird, right? a dentist diagnosing a genetic disease mainly known for its dermatological features). This particular kind of E.D. is characterized by skin abnormalities mainly (and lethality in males), also with the possibility of hair loss, dental abnormalities, and eye abnormalities. There is also the risk of IP affecting the brain which can result in delayed development or intellectual disability, seizures, and problems. I've always considered myself lucky when it came to my personal case of IP. My case of inocontinentia pigmenti included eye problems, dental problems, and skin problems. My eyesight is pretty terrible; for quite a few years I had to deal with retinal bleeding and built up scar tissue. My teeth are just as bad: I'm missing ten permanent teeth and ended up growing an extra canine in between my front two teeth when I was little (that made for an embarrassing school photo). My skin isn't terrible, but it still isn't normal: just imagine not having sweat glans, having strips of skin that just won't grow hair, and having your skin randomly flush to reveal an intricate, rash sort of looking pattern every once in a while. Despite this, I really do consider myself lucky. Lack of sweat glans and all, I don't have a sever case. I am perfectly mentally capable, I don't have seizures, and despite my eyes, teeth, and skin issues, it's nothing that I can't handle.

Putting Faces to the Name

The faces of some individuals effected by ectodermal dysplasias, as well as some more information on NFED and the most common side effects.

What is ED (Ectodermal Dysplasia)?

"The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth.  When a person has at least two types of abnormal ectodermal features—for example, malformed teeth and extremely sparse hair—the individual is identified as being affected by ectodermal dysplasia.

The conditions are a remarkably diverse group of disorders which may also affect other parts of the body. The ectoderm contributes to the formation of the lens of the eye, parts of the inner ear, the fingers and toes, and nerves, among others. Therefore, ectodermal dysplasia may cause these parts of the body to develop abnormally.

There are more than 150 different types of ectodermal dysplasias.  Symptoms range from mild to severe. Only in rare cases does ectodermal dysplasia affect lifespan and very few types involve learning difficulties."

~ National Foundation for Ectodermal Dysplasias

Fifty Fifty

When I was born, the doctors observing me told my mother that I was going to die. Or, to be more precise, that there was a high likely hood that I would die. Considering that I'm here typing this now, they were obviously wrong. When I continued living, they informed her that there was a fair chance that I would be mentally retarded. That didn't happen either. Instead, I'm currently a successful college freshman who is very much alive and not mentally handicapped in any way (unless you considered the lack of sleep that all college students seem to suffer from a handicap). My doctors told my mom that I was a medical miracle. Instead, I prefer the nickname that one of my friends came up with after hearing the story: the fifty fifty girl.