Taking Things For Granted

I realized over the summer that, before college, I was taking my family for granted. I was taking being surrounded by people who understood me, knew me, and loved me for granted. I'm not saying that I don't have friends here on campus or that my friends back home aren't great, but there is a certain comfort that comes from those who understand exactly what you are going through that cannot be paralleled. Out of my entire family, I probably under appreciated my mom the most. Of all the human beings on this earth, she is the single person who knows exactly what I have been through and all that I have been through. She knows all of the hardships I have faced, knows all of my faults, my strengths, my idiosyncrasies. One thing she knows that many others don't is how my ED has affected me. She may not know all of the scientific means by which I inherited my ED or the medical terms for all of my ailments, but when my skin flushes in an odd way or when I start feeling sick in the heat, she understands. Up to this point, she has been the only person who really understood all of that, and this summer really made me realize that.

Now, just to clarify, I have what I consider to be a fairly mild case of ED. Yes, by looking at me you'll notice my glasses and my retainers, but other than that, more often then not no one would suspect that I have a genetic disorder. After all, lots of teenagers around my age have braces or retainers and tons of people wear glasses. Those two things combined aren't really enough to set me apart from anyone else. But every once and a while when my skin flushes in a certain spot or a certain way it can look like I have a weird kind of rash. I can't really describe it, but by some it is called the "marble cake skin disease," if that gives you an idea. Anyway, there was one day in particular this summer that reminded me exactly how I am different. I was a couple of hours into a six hour shift at work, chatting with the girl who was working with me that day. This was my third year working with her and she is a really sweet young woman. Well, we were just chatting away, having a couple of laughs when she asks me what is wrong with my leg. Hearing this, the first thought that ran through my head was that I had a cut and was bleeding or something (I have a habit of not feeling cuts and scrapes). So I look down, expecting to see my sock stained red and nothing. It was just my leg, looking completely normal in my eyes. I guess she saw different because she kept insisting, and for whatever reason that really stuck with me the rest of the summer. Even now it kind of gets to me. I wasn't teased an enormous amount because of my disorder when I was little. I mean, children called me a vampire when I was younger because of all of my pointed teeth, but once I got braces and false teeth, I looked just like everyone else. For a while, I forgot I was different. But it only takes one little comment to pull your memory back right in front of you.

That one little comment really made me realize how much my mom has helped me throughout the years. Her understanding, her kind heart, her acceptance has been such a huge part in the foundation of my life that I really take it for granted sometimes. But this one little comment made me realize something else as well. My mom understands everything that I have been through and supports me with every step I take. She's been there to explain my own medical history to me, help me sort through treatment plans and doctors, and to help me look further into my own disorder when I wanted more information. This is all great, but there is so much that neither she nor I know, so much that neither of us, nor my doctors, can explain simply because none of us are experts on the subject. So this summer, I decided that I wanted to extend my knowledge of myself by reaching out to others who have gone through the same things I have. I finally built up the courage to email an NFED liaison about being introduced to other families. I figured if having one person who understands my symptoms is comforting and relieving, then why not try and reach out to a group of people who can understand better than anyone else what I am going through on a day to day basis? I'm not quite sure why it took me this long to try and reach out. I've known about NFED for a really long time. I've seen the conference videos, read the news articles, and gone over the family stories countless times, halfway wishing that I could get to know this group of people and halfway thinking that, for whatever reason, I wouldn't belong. Well, now I have reached out, and even thought I have just scratched the surface as far as getting to know these people, I wish I hadn't waited so long to do so. It's a really crazy feeling, after going through nearly two decades of life feeling like my mom was the only one who really understood, to find this all these great people who have shared the same troubles and worries. Now, I'm really just wondering what's going to come next. One this is for sure though, I won't be taking my family for granted anymore, and I won't take this opportunity to connect and to learn from others for granted either.

Blues For The Cure

Now this is what I call a fun fundraiser (not that collecting change isn't)! Good food, great music, and raising awareness, there is no better way to do it. This video is kind of a follow up to my last post about the development made by Edimer Pharmaceuticals and the new protein treatment for Hypohidrotic Ectodermal Dysplasia. This video stars David LaValley and his creative way of helping fund the wonderful work and research that Edimer Pharmaceuticals is doing. The event he created is called Blues for the Cure. Best of all, the event is upcoming weekend and you can go check it out! If you are in the area, I highly encourage you to go check it out and support this awesome cause!

Blues for the Cure Benefit 
Sunday June 24th 
Noon - 9PM 
Crossroads Rt. 20 Sports Pub 
1701 Park Street, Palmer, MA

Blues for a Cure: wwlp.com

Fast Tracking A Miracle

So today I have awesome news! For a while, NFED has been trying to get families and individuals to raise awareness about ectodermal dysplasias by writing to congress in order to try and spread knowledge as well as try and attain an increase in medical research funding for National Institutes of Health. Well, it looks like it might have paid off! Newly posted on the NFED website is an article about a recent development with the FDA in regards to a treatment for hypohidrotic ectodermal dysplasia (which, f.y.i., is the most common form of ectodermal dysplasia found in humans). This news is exceptionally exciting considering that there aren't really any treatments for ectodermal dysplasias, just for the resulting symptoms. The FDA has fast tracked this treatment, meaning that it is basically being viewed as a priority because the treatment or drug is aimed at meeting a currently unmet need in the medical field and it addresses a life threatening condition. This also means that ED is being viewed more seriously in the medical field, which could lead to further research into treatment for the other one hundred and something-odd types of ED. And all of this withing Ectodermal Dysplasia Awareness Month! How awesome!! For those who want more information, here is the article, word for word:

"Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked hypohidrotic ectodermal dysplasia (XLHED), today announced the receipt of Fast Track designation from the U.S. Food and Drug Administration (FDA) for EDI200, the company’s novel, proprietary, recombinant protein. XLHED is a rare orphan disease that causes a range of symptoms including lack of sweat glands, poor temperature control, respiratory problems, and hair and tooth malformations.

The Fast Track program of the FDA is a process designed to facilitate the development and expedite the review of new drugs that are intended to treat serious or lifethreatening conditions and that demonstrate the potential to address unmet medical needs. A drug that receives Fast Track designation is eligible for more frequent meetings with FDA to discuss the drug’s development plan and ensure collection of appropriate data needed to support drug approval. In addition it offers more frequent written correspondence from FDA about such things as the design of the proposed clinical trials. Fast Track designated drugs typically qualify for priority review which can further expedite the FDA review process.

"We are diligently working to develop EDI200 as the first treatment for XLHED and are delighted that the FDA recognizes the potential for this novel therapy to treat this serious, potentially life-threatening disorder," said Neil Kirby, PhD, President and Chief Executive Officer of Edimer. “Correction of developmental abnormalities early in the life of XLHED-affected patients may provide clinically-significant, life-long health benefits. We will continue to work collaboratively with clinical investigators, health authorities and patient advocacy groups around the world to develop EDI200.”

“This is a significant milestone in our long journey toward a treatment for our families. We applaud Edimer and the FDA for recognizing the importance of this product and the commitment to working toward an effective treatment. We couldn’t be more thrilled that this news coincides with Ectodermal Dysplasias Awareness Month,” said Judy Woodruff, Executive Director of the National Foundation for Ectodermal Dysplasias. 

About EDI200

EDI200 is an ectodysplasin-A (EDA-A1) replacement protein, representing the first of a new class of molecules rationally designed to correct a specific developmental disorder. EDI200 has been shown to bind specifically to the EDA-A1 receptor, activating the signaling pathways that lead to normal development. EDI200 has demonstrated substantial and durable efficacy in mouse and dog models of XLHED with notable reduction in mortality and morbidity."

For all of those working at Edimer Pharmaceuticals, and for the individuals working in unison with them, I'd like to thank you, on the small off chance that you happen to be reading this. This news is an incredible break through for the ectodermal dysplasia community. I can't wait until this treatment is out of the final stages of testing and it can be implemented on human populations across the world. Everyday I find that there are miracles happening all around us. This was one of today's miracles.

Cold Showers It Is

At the moment, not a whole lot is going on. I did finally get to see a new doctor last Monday, something that I promised to keep you guys updated on. I went and communicated my concerns with her about the collapsing episode I had a while back while on campus. She, unlike the doctor I saw on campus, eased my worries by explaining exactly the reasons why she thought it was not a seizure: one, the two most common types of seizures, grand mal and petit mal, are fairly distinctive and did not fit the description of my episode, and two, of the two most common types of fainting, vasovagal syncopes and cardiac syncopes, the former seemed to fit my situation like a glove. With vasovagal syncopes, "the episode often occurs  while  standing  in  a  warm,  crowded environment,  or  when  the  patient  is emotionally upset or stressed. Blood drawing or  public  speaking  may  cause  fainting. Episodes are more common when the patient is tired,  hungry,  ill  or  dehydrated.  Older children report a  feeling  of  warmth, a  'cold sweat,' or nausea before they faint. Witnesses describe the child as being pale with  dry skin.  The  loss of  consciousness  typically  lasts less  than  one to  two minutes. The patient may be pale, sweating, or generally feel 'washed out'  for a period of a few hours. If the patient returns to the upright position too quickly, loss of consciousness may recur. Rarely, seizure activity (stiffness or shaking) may occur as the patient wakes up" (source here ). Now that sounds like what happened to me. The other kind of fainting is caused by some abnormality with the heart and its function, such as rapid or abnormal heart beat or heart blockages. I did tell my doctor what my friend Mandy said (her blog can be found here), about it sounding like a possible first seizure, and while she was hesitant she still gave me a referral to a neurologist who I will be seeing in August. In the mean time, she did have some of her nurses run a few tests to get a better idea what she was dealing with. They ran an EKG to check my heart which returned as normal (though the first time the nurse ran it, one of the electrodes must have been loose because she ran it a second time, which scared me for a minute). The rest of the tests were blood tests, specifically testing my thyroid, glucose levels, my liver, and my chemistry profile, whatever that means. All of those tests came back normal, but one thing was a bit off. With the handwritten lab results that were mailed to me, my doctor wrote in "mild anemia, take 'one a day teen girl,' discourage blood  donation for now" under other. So as far as the seizures go, she thinks that are highly unlikely, but wants me to check with a neurologist anyway, and I am lacking a bit in red blood cells. I walked away from that doctor's visit taking that as good news. After all, it could have been worse. There is one thing that does kind of suck though. My doctor told me that just in case taking hot showers are triggers for fainting spells for me, I should lay off turning my bathroom into a sauna in the mornings. Taking cold showers is definitely not going to be easy to get used to.

*** By the way, while I was typing this blog, my cat decided that he wanted to help by typing up his own little bit. I thought I'd respect his creative license by sharing it with you guys as well.

"(stiffness or fgggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggggg777777777777777777777777777777777777777777777777777777777777777777777777777777777777777777777◘96o9pshaking) may occur as the patient wakes up" (source here ). t655555555555555555"

What do you think?***

Zip-A-Dee-Doo-Dah

I thought that this morning I'd start the day off with an uplifting little video. It's of a little girl with ED singing zip-a-dee-doo-dah at a talent show with confidence. 

YouTube video description: "My 4 1/2 year old daughter singing at the NFED Talent Show and 'wow-ing' the crowd. She has EEC Syndrome and is almost completely blind. It just goes to show that nothing can stop her! She ROCKS!"

This video made my heart smile.

Sweating In Alaska

A few days ago, I promised you guys some stories from my Alaska trip as soon as I could get some pictures to go along with them. Well, I finally got a chance to download some photos! So sit down and relax because it is story time.

The only way I can really describe my trip was to say that it was amazing. Of course, the landscape was gorgeous, the people were fantastic, and the feeling of giving back to such a wonderful community was just outstanding. I and a group of eleven others went to Anchorage, Alaska and helped lay down the foundation and the building blocks for a garden for Alaska Child Services and the children in their care. It was just a fantastic experience all around. Now, when it comes like mission trips like this, there are always a couple of moments that seem to stick out more than others, moments that will stay with a person forever. For me, over the course of my trip, there were exactly two moments like that for me: one, when I took part in a sweat lodge, despite my less than adequate ability to sweat, and two, when I climbed a mountain. 

Now something that I want to clarify before diving any deeper into the stories was that with both of these events is that people told me I could not do them. In today's blog, I'm just going to talk about the sweat lodge, but I'll go into climbing the mountain later this week. With the sweat lodge, once the man who in charge of our mission group heard that not all of my sweat glands work, he was ready to drag me kicking and screaming out of that sauna like environment. Unknown to him, however, I can be an extremely stubborn person. Just because my epidermis isn't exactly normal doesn't mean I can't participate in activities that get a little hot. Similarly, just because a boy can't sweat at all doesn't mean he can't play baseball, or just because a man doesn't have teeth or hair doesn't mean he can't become a well known actor (Michael Berryman comes to mind here). Our ED does 

make us different from others, but it doesn't mean we are 

incapable of doing what others can do. We are just like everyone

else, perhaps minus a few teeth. 

Anyway, as I was saying before, I do have a habit of being a 

rather stubborn person at times. I felt like this was an opportunity

that I really shouldn't miss, so I called my mom and once our

group's chaperon heard from her that she thought it was alright

for me to go in as long as I was hydrated and had the opportunity

to leave if I needed, he relaxed. I don't know how to explain the

actual feeling of sitting inside the sweat lodge. The only words that

comes to mind are rejuvenating and a kind of relaxation that 

borders on liberation. Of course it was incredibly hot. There were

ten of us in a room about the size of a non-luxury minivan sitting

around a furnace topped with steaming stones that hissed violently

whenever water hit their surface. We sat in there for an hour and

a half praying (it was a religious experience and a big part of the 

mission trip for us) and it was such a moving event, not only

because it was such an intense form of prayer, but because I was

to actually participate and last through the entire thing. In my

childhood, whenever it would come to sports or the heat, or even

my junior year when I tried out for drum corps, it always came

down to whether or not I'd be able to participate because of my

sweat glands. This time, though, I could feel the heat surrounding

me, seeping into my lungs with every breath I took, and I over

came it. It was the first instance that I can remember where

my genetic disorder didn't play a part in my consideration with

whether or not I should push forward or leave; I just sat and prayed,

and it was wonderful. 

I guess what moved me the most about this experience was that

I felt like I was no longer held back by worry or doubt. Just because

I have ectodermal dysplasia doesn't mean my life has to be different

from anyone else's. And the same goes for everyone else with ED. Just

because someone has a genetic disorder doesn't mean his or her 

life is change for the worse. It just means he or she is a little different,

like I am. It doesn't change someone's quality of life in a bad way.

If anything, it improves quality of life because it makes a person

more aware of how blessed they are. At least that is how I view 

my own personal disorder. Others may disagree with me, but that

is something that really stood out to me on my trip to the sweat 

lodge in Alaska. And the best part about it? My mom's response 

when I took a sweaty picture of myself afterwards and sent it to her:

"You can sweat! YAY!"

Follicle Fate

Oops! I typed out this blog last night only to hit save instead of publish because I was so tired. Sorry for that! Today I have two videos to share with you, both dealing with a charity called Follicle Fate. The founder, Sean Vora, does a much better job of explaining his vision and charity than I ever would, so I'll just leave it to him to explain. The first is a welcome video and an explanation of his charity, and the second video is the end result of his efforts. Enjoy!

Don't Sweat It Walk Update

Today's post is going to be a short little thing because I'm rather short on time tonight. But I do have exciting news! The woman I emailed about hosting a Don't Sweat It walk has replied to me! And at a kind of scary fast rate, at that. I suppose that just means she is great at her job. Anywho, when I emailed her I just had a few simple questions ("How old do you have to be to host a walk? I host a walk at nineteen?", "Is it worth it to host a walk in Texas, or has everyone with ED up and left the state?", etc. ) and she answered everything she could. She told me an approximate number of people with ED who live in Texas would sit somewhere at about two hundred. If that's the case, then hosting a walk wouldn't be unreasonable at all, assuming that I could get in touch with those people and they came out to support and brought some friends with them. She also stated that since I'm over eighteen I can host the event by myself (or at least sign all the paperwork by myself) and that the walk didn't have to be in June. June just happens to be when most of the walks take place. Along with all that, as well as the numbers for some other people I might want to contact if this thing actually happens, she sent me the majority of the forms that I would need to fill out in order to host a walk. A lot to take in in just a couple of days right? This went from being a little idea to an actual possibility over the course of a weekend! I'm actually getting pretty excited over this! Anyway, that was my little update for today. I'll keep you posted as I learn more, and if this walk ends up happening you guys will be the first to know! Can't wait to start walking!

Swim for Sweat - James Paisley Video

For today's post, I thought I'd post this awesome video I found while surfing youtube! I'll be honest, I was first browsing work out videos in the hope that I could actually will myself into working out today, but that didn't happen, so instead I went looking for something to share with you guys! That is when I found this little beauty. I personally find it really inspirational. It is a short video (five minute video clip/photo montage set to music) about a man named James Paisley who has a child with ED and wanted to raise awareness about ectodermal dysplasia and about NFED (the National Foundation for Ectodermal Dysplasias). To raise money, he set his eyes on completing the Maui Channel Swim, a ten mile swim from Lanai to Maui. In doing so, he managed to raise over twenty nine THOUSAND dollars! How great it that?! Check the video out!

Don't Sweat It Walk in Texas? I Hope So!

So I've been looking for something that I could do to get myself involved with the ED community, specifically in Texas considering that is where I currently reside. To be honest, I don't even really know if there is much of an ED community in this state. I mean, there must be, right? Texas is a pretty big place with a pretty big population, so the statistics should be in my favor. Well, what I find interesting is that there really many ectodermal dysplasia related events here, at least none that I've seen or come across in the past. I mean, there is a golf classic being hosted in Spring, Texas on August, 12th (click here for more information), but what about during Awareness Month? This month, there are Don't Sweat It Walks in Missouri, Ohio, New York, California, and Illinois, but not one in Texas. Maybe it is just the fact that those who are living with ED and are the focus of these events (meaning that they can't sweat) are smart enough not to live in Texas, but considering that this is Awareness Month and there is at least one person with ED in this state, I'd really like to see something happen. Honestly, I'd like to see one of these walks hosted in every state, or even better multiple walks in multiple cities throughout all states, but for now focusing on bringing one of these walks to my city will do. Anyway, basically what I'm trying to get at is that I'm thinking about trying to host one of these walks! I'm an individual who is affected by ectodermal dysplasia and not all of my sweat glands work, and if no one else is going to host a walk in Texas, why not me? I'm not rightfully sure how many people would show up if I did try and pull this off, or if it would even be a possibility this year because of it being such short notice and with my job and all, but I figure it's worth inquiring about at least. So in an effort to do so, I've emailed someone with NFED and I guess we will just see what happens! I'll keep you updated and let you know what she says if she replies tomorrow. For now, keep collecting that change for 30 Days of Change and have a good night!

30 Days of Change

I'm back from Alaska! The trip was truly amazing and for me there were some really profound and moving moments, but I'll write another post about that later when I can accompany it with pictures (I can't find my camera cord!). Today I wanted to fill you guys in on a small fundraiser that NFED is doing. It is called "30 Days of Change," and it's a really simple fundraiser in honor of June which is Ectodermal Dysplasia Awareness Month. Throughout a normal day, everyone collects a few random coins that just jingle around in their pockets after a trip to the grocery store, trip to the gas station, etc. The idea is that you put those couple of coins in a change box every day during the month of June and then mail in the change box as a donation. They even have a simple calendar to follow if you need little reminders or a little push (which you can download here). I figured that with today being the first day of Awareness Month and the first day of this awesome fundraiser, it was the perfect thing to post about and share! For more information about 30 Days of Change and to request a change box from NFED, check out this link. I myself will be participating and I hope you do too! Every penny counts. Also, because of Awareness Month, I'm making a vow to myself and to you guys that I will update my blog every day during the month of June! Wish me luck with that, and remember to save your pennies!

Forget the Apple, I Need a Doctor

Phew! Finally, some time to just sit down and relax. Now that finals are over, I'm moved back home for the summer, I've got everything set up for my mission trip to Alaska (leaving on Monday, so excited!), and got everything lined up with my summer job, I finally have some time to just breath. But with the semester being over and me being back home, that brings a new challenge: doctors. When my mom heard about that incident I had about a month ago when I collapsed twice without warning, she instantly when into protective mode, trying to figure out what exactly she could do to help me regardless of being six hours away. Her first course of action was to try and get some medical advice on what might have happened and to get me into a doctor. There was only one problem: I didn't actually have a primary doctor.


Now when it comes to someone's health, doctors play a huge part. The hard part is finding the right doctor for you. In my personal case, my medical history and incontinentia pigmenti has always made finding the right doctor for me difficult, especially because of the fact that I have so many of them. A primary doctor, optometrist, dentist, orthodontist, periodontist, prosthodontist, dermatologist, neurologist, otolaryngologist, geneticist... The list goes on and on. And it isn't only the number of doctors I have that makes finding the right ones for me difficult, but also the sheer number of practicing doctors in the area that I live. I can't count the number of optometrists my mom went through when I was little before she found one she approved of and that I liked. The same went for my primary care doctor. It took so long to find one that I liked that I stuck with her until I was eighteen, regardless of the fact that  I was the only teenager in a waiting room full of toddlers. It took a really long time to find someone whose advice I trusted when it came to my health, especially because of my ED. The more medical care that someone requires, the more trust they have to put into the hands of others when it comes to areas they don't understand. The many optometrists I met with before I found my permanent doctor, for example, all stated that I needed eye surgery because of the large amount of scar tissue around my retinas from my eye problems and the retinal bleeding I suffered from for many years. Eye surgery at the age of about six, mind you. But my mom kept looking until she found a highly recommended doctor who said otherwise. Now there isn't any signs of eye surgery in my future and I didn't have to undergo that unnecessary risk. Finding trusted and qualified doctors is difficult, but finding a doctor who you have faith in makes all the difference and really helps put your mind at ease. Unfortunately for me, my nineenth birthday put a wrench in my peace of mind because many of the doctors I had were solely pediatric doctors. That of course means I have to deal with the looming task of starting the search all over again.


So on that day when I collapsed, suddenly that problem was brought to my mom and I's attention. When I turned nineteen I lost my primary doctor and my neurologist (among others), the two doctors that I now need to check in with, both of whom knew my medical background very well. Of course there are plenty of other great doctors out there, but sometimes the idea of trying to explain nineteen years of medical history to someone who has only read of the condition I have in a textbook is rather daunting. My mom even got recommendations from her doctor for both a primary care doctor and a neurologist for me, only to find that all of the doctors recommended were either not accepting new patients at the time or would not treat nineteen-year-olds. Not a great time to need a check up, right? Well, that was back in April. Now it's May and I haven't collapsed again since then, but my mom still wants me to get checked out, just in case. For right now, we took the simplest approach to finding a new doctor for me: I have an appointment with my mom's doctor! She has been with her for so long and talks about me so often that she practically knows me any who, so it is worth a shot. Having a primary doctor wouldn't be such a big deal if I could see a neurologist without a referral, but alas that is not how the world works. I have an appointment with her on June 4th, shortly after I get back from Alaska. If she comes up with anything conclusive, I'll keep you guys updated. For now, take care of yourself!

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! 

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.