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!