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.

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!

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!

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.