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!