A Picture is Worth a Thousand Words

I really don't have much of anything to say today, but I came across this picture that I thought was just beautiful and I wanted to share it with you all.

This is six year old Hali, who has ED, having some summer fun.

You guys have no idea how much I love this picture :)

To read the story that goes with this image, click here.

Want To Connect With Others With ED? Want an iPad2? Look No Further!

Things have been crazy lately. With the semester winding down, tonight is the first night in a while where I really don't have to do anything (and I can even sleep in tomorrow morning!). It's pretty awesome, especially after a few nights of going to sleep around one thirty when my normal bedtime is about two hours earlier. So what do I do with all my free time? Well scan the latest news on NFED.org for some new information to share with you guys, of course! No critical life changing breakthroughs today, but I did find something that I thought was worth sharing. The Nation Foundation of Ectodermal Dysplasia is currently asking those with ED to take part in a registry that they are creating to help diagnosed individuals and their families connect with other families that are affected by ED as well as clinicians and scientists. There is even a function on the website where you can submit questions to experts about ED at no cost to you. The page lists these as their main focuses:

Objectives

• Characterize and describe the ectodermal dysplasias population.
• Assist the development of recommendations and standards of care.
• Facilitate in the planning of clinical trials.
• Accelerate and facilitate clinical trials by locating potential research participants quickly and efficiently.

It's really simple to take part in this registry. All you have to do is click here, register on the website, and complete your profile. It took me about twenty minutes to complete total (granted, I didn't know some of the answers to the questions they posed, but you aren't required to answer every single one so no worries there). And the cool part is that this registry isn't limited to just the United States- it's international! There are groups from Australia, Austria, Germany, Belgium, Denmark, France, Italy, Mexico, Netherlands, Belgium, Luxembourg, Norway, Spain, Sweden, Turkey, and the United Kingdom that are all taking part in this! And as an added little bonus, everyone who registers as part of this registry before July 18, 2012 and answers all of the questions is eligable to win an iPad2! So go check it out now!

Know Your Body, Know Your Symptoms

Today was a very educational day for me, but it started off by a pretty scary experience. It started this morning while I was getting ready just like every other day. I woke up about eight o'clock, laid in bed for about fifteen minutes piddling on my iTouch, then grabbed my clothes and my towel to go take a shower. While I was showering, something happened that's I've never experienced before: I collapsed in the shower. Not only once, mind you, but twice. It was really strange. I was almost done when I started feeling a little nauseous. It rapidly went from a feeling I barely noticed to the sudden feeling that if I didn't sit down right away I was going to throw up. While trying to get out so I could go sit down, I fell. I don't remember falling. I only remember knowing right before that I was going to fall, going limp with no way to break my fall really, and then that I was on the ground. After that, I tried getting back up, only to be greeting with another wave of nausea and the shower tiles yet again. When I finally did get out and get to sit down, I felt rather confused and a bit dazed. Of course the medium pitched ringing in my ears didn't help this either. When I left the bathroom, I also caught a glace at myself in the mirror: I had no color in my face whatsoever and I hardly recognized myself. What had just happened?

Well, to be honest, I can't answer that question just yet. I haven't been fully examined by a doctor so I don't know if this was just some random one time incident or if I should be worried about it happening again in the future. But, being my normal curious self, I wasn't just going to sit around and ignore what had happened. It turns out that one of the possible side effects of Incontinentia Pigmenti is actually seizures. Shows how much I know about my own disorder, right? Well this got me to thinking... If this actually was a seizure, what does that mean? How would I know if it was a seizure? If it was, is it typical for such a thing to start nearly two decades after someone is born? So for answers to all these questions, I referred to my in house expert on seizures and epilepsy: Mandy, A.K.A. EpilepsyBlogger. 

What she told me frightened me a bit; she said that my experience this morning sounded a lot like the experience of someone having their first seizure, and that it's common for seizures to start when a person is between eighteen to twenty years of age. She also said that having little to no warning before a seizure is pretty common place as well. Granted, she isn't a doctor herself and isn't qualified to dictate what is and isn't a seizure, her short talk with me prompted me to look into this a bit more. While the nurse on campus chalked it up to a lightheaded sensation, more or less, I'm definitely going to get this checked out more once I get back home after finals. If more mornings like this are to be in my future, the least I can do is be better prepared. Maybe that way I won't have to miss class and work to get checked out again.

Anyway, the point that I wanted to get across with this post is a fairly simple one: know your body, know your symptoms. Ectodermal dysplasias come with such a wide variety of symptoms that it's better to be over informed and know of symptoms that are possible that you don't even have then to be ill prepared in the face of a medical emergency or unusual situation. To be prepared is to take care of yourself. Just something to keep in mind.

The Boy Who Doesn't Sweat

The boy who doesn't sweat.: 7 year old Owen McCulloch has ectodermal dysplasia, a disorder that among other things, makes him unable to sweat.


This is a video that I thought was awesome. The part that really got me was when he said having ectodermal dysplasia was fun because he got ice blocks. Check it out, just click on the link!

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!