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.

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!

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.

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