Then Comes Baby in a Baby Carriage

The other day I was caught really off guard by a question a woman I was talking to asked me. I can't remember exactly how we started our conversation (I believe we were talking about sports, I'm not really sure), but I do remember that I told her I was never interested in many because of the very likely possibility of overworking myself and overheating because not all of my sweat glands work. Naturally, this lead to her asking why and to me responding, "I have Incontinentia Pigmenti." Once I explained what that meant a bit more, she asked me how one gets such a thing, to which I responded it is an x linked genetic disorder and it is thought that my mom is a carrier. That's when the really surprising question came, the one that kind of shushed me into shock. What does that mean as far as you having children goes?


I'll be honest, I've never really thought about it a whole lot because I don't want to. The genetic disorder I have, it can be pretty lethal in males, so the few times I have thought about the possibility of having children in the future, I've tried to push the idea out of my head. I mean, why should I even be thinking of having children in the first place? I'm only nineteen and me having children is not going to be happening anytime soon. But that still doesn't change the fact that  when I do settle down eventually, the idea of passing on my genes scares the pants off me. Just because I have a mild case doesn't mean they would necessarily have the same luck, and if I do have a boy, what kind of risk would I be putting him at simply by conceiving him? What if having children of my own was too much of a risk for them? Would I be okay with adoption or with an egg donor? Would my husband? How would I feel about not having a child that is not biologically mine? All of these questions from a single inquiry from a woman who was practically a stranger.


In all seriousness though, this is a major concern of mine, as I'm sure it is for many women out there, as well as men. For those whom having a family is very important, the possibility of passing on one's own genes can be terrifying. No one wants to believe that they imparted undesirable qualities on their loved ones, especially their own children. When the day comes that I'm ready to settle down with someone I love and start a family, I hope that I am strong enough to face whatever comes my way, but until I'm older and know more about my own genes and how they might effect others, I just have to focus on keeping myself healthy.

Needles and a Hero

Sorry for my long, unexpected absence, especially since the blog was in it’s infant days. It still is, in fact. So to make up for it, a more personal post…

The thing that was hardest on me as a kid was probably the needles. I hate needles, can’t remember a time when I didn’t. Something about a sharp object penetrating the skin… To me it just seems wrong, even if necessary. Even today I’ll sometimes tear up when I have to get a shot or have my blood drawn, and when I was little I would just flat out bawl. Anyway, when I was younger, in my pre-diagnosis days, coming in contact with needles was a pretty common occurrence for me. Around the age of four or five, I was having blood drawn at least once a week for various blood tests as doctors were trying to figure me out (or at least that’s the way I remember it. I recognize the fact that this might not be realistic possibility depending on the amount of blood that was taken during every session and that the recollections of four year olds aren’t too reliable around fifteen years later, but bear with me). They were ruling things out left and right, but that didn’t quite seem to slow down the rate at which they were testing. All of this was torcher for me, the girl who hated needles. I just wished they would stop whatever it was they were doing and leave me alone so I would be band aid and needle free for an extended period of time. The only pleasant thing that came from this was the bonding time I had with my mom. She knew exactly how much I hated needles, so every time I had to go get my blood drawn, afterwards she would take me to the little gift shop that was a few doors down and buy me a stuffed animal to help me calm down and stop crying. Needless to say her money wasn’t only going towards doctor bills. Even with the gift shop overcharging for TY beanie babies and the fact that there was no real reason for me to be quickly gathering a collection of over one hundred stuffed animals (not all from after shot sessions, but a fair amount of them), she would still always buy me one to make me feel better. I still have every single one of those beanie babies at home, and during those rough times and whenever I’m sick or have to have a shot or something of the sort, I always think back to those stuffed animals and how much my mom cared for me then and always.

This is the Father's Day HERO Bear. I have one just like it at home, and I cuddled it for years. Probably my most loved stuffed animal from my childhood.

Show Me Your Teeth!

One of the more difficult things about having an ectodermal dysplasia are the problems that can arise with the teeth. From missing teeth to random additional teeth to disenigrating teeth and everything in between, dealing with dental issues can be a huge hassle and can sometimes cost as much as a college education. I myself have had/am currently in the process of having around thirty grand worth of dental work done, all before I hit the age of twenty. I have ten permanent teeth missing, grew an extra tooth in between my front two teeth, still had a few of my baby teeth when I was eighteen, and lots of other goodies. The strangest thing (strangest thing to me, anyway) was the way I would loose teeth: they wouldn't fall out, they would disintegrate. Dealing with dental issues is no fun thing, but with the right dentist (and the right insurance) anyone, even those with ED, can have a beautiful smile!

Want more information on what can be done regarding dental work for those with ED? Check out this newsletter to see some amazing before and after photos! 

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