Chase Community Giving - EDS Type IV

[soxfan22]

As many of you who are on Facebook might know, Chase Community Giving is holding a contest on Facebook that will give the winning charity $1 million for research.

The cause for which I am voting is Vascular Ehlers Danlos Syndrome (Type 4).

I will attach a video below that really illustrates the devastation this condition causes, a condition for which there is no cure. EDS affects collagen production, thereby leading to thinner and weaker than normal endothelial lining. This leads to premature rupture of arteries, often the aorta. Many patients begin having manifestations of their condition as early as 10 years old, and many succumb to the condition before the age of 50 - often battling ruptures of arteries and organs along the way.

Why is this important to me?

When I was 8, my Grampy died at 61 years old from a Ruptured Abdominal Aortic Aneurysm (AAA). He was a seemingly healthy, fit, 61 year old man. His only medical Hx was a hernia in his 20's (in retrospect, this is a common problem in PTx's with EDS IV).

Four years later, my Uncle Calvin passed away unexpectedly at the age of 41, also of a ruptured AAA. My mother had suddenly lost her Dad and a brother within a matter of four years. At this point, suspicions were raised that our family had a predisposition to developing AAA's. However, this was 1989, and no formal genetic testing was done.

At that point (1990'ish, which made me 13), my parents had abdominal ultrasounds done on both my sister and I to use as a baseline moving forward. We were fine, and are still fine today.

Fast forward to April 2008. My aunt Jeannie (mom's sister) was sitting at her son's baseball game in Old Lyme, CT, when she suddenly felt a sharp pain in her back. She couldn't have been a more fit woman, working out at the gym daily, and having just celebrated her 50th birthday weeks earlier.

She knew this was not a "normal" pain, and so she left the game and drove herself to Yale. The ER at Yale was packed, so she drove to New London. At the ER, they diagnosed her with a kidney stone, ran some tests, and off she went. Two nights later, the pain returned in the middle of the night, and off she went to the hospital.

This time, they diagnosed her with a Renal Infarction (think MI, but in the Renal Artery)...She was at L&M in New London for a couple of weeks, and seemed a bit better, but, she just wasn't right. The Nephrologist who was caring for her said "we don't know what this is, we need to send you to Yale".

She was at Yale for six weeks, suffering a few strokes while she was there...There is much much more involved, but I will spare the details...There were many times we thought the worst, but prayed for the best!

A geneticist came in and started observing her physical attributes for signs that might point to something like Marfans Syndrome. Long story short, he thought it was Ehrlos Danlos IV (vascular), and the tests came back confirming this diagnosis.

My aunt Jeannie is doing very well today, and when I say that is a miracle, I am not overstating.

**Interesting side story...When the blood work was out and we were waiting, we knew they suspected this EDS. My dad's sister knew what my mom's family was going through, and so she got on the Internet and did some research...She found the leading expert in EDS IV to be a physician in Seattle. My aunt emailed this doctor, saying "a friend of hers might get diagnosed with this condition, can you tell me about it".

The doctor in Seattle wrote back "thank you for the email...we are already aware of your friend's situation, as Yale has already contacted us". My aunt never said her friend was at Yale in her original email, and never gave my aunt Jeannie's name.

So, after her official diagnosis, they tested my mom, my uncle, and my other two aunts...Another of my aunts tested positive, and so her kids had to be tested...One of them has the mutation and hence, the diagnosis (he is 30)...Additionally, one of my aunt Jeannie's sons also has the condition (he is a sophomore in college). My mother tested negative, thereby making testing my sister and I, as well our children, unnecessary (the gene mutation is Autosomal Dominant).

I guess that makes six who have Vascular EDS in our family, but there are probably more, since my grandfather had many siblings himself, who also have families. In fact, one of his sisters also had an aneurysm, long before any of this was known.

My apologies for the long message.

If you have read this entire post, thank you. And if you would, please visit the link and vote for Vascular Ehlers Danlos Syndrome at:

http://apps.facebook.com/chasecommunity ... ies/235097

And please watch this video, as again, it spells out the devastation of this condition.

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Thank You.

[loria]

Done!

[verjoy]

Dear Sox~

I have already voted in the FB Chase Community Giving contest, but will try to vote again for EDS Type IV.
Good to see you!

ediited:
Great news! Each FB user gets 5 votes-so I can support EDS in addition to my other favorite-the National Autism Association!

[promoguy]

When hitting the button for a donation, check to see which one of your very local non profits are participating.

[soxfan22]

Thanks Loria, Verjoy, and Promoguy!

[promoguy]

Thanks Loria, Verjoy, and Promoguy!

For what?

[Anthony]

I am going to sleep soon - let's keep this on the up and up.

[promoguy]

Anthony, only cuz I love you big guy. At least I now know the time frame to post my vitriol.....LOL

Sleep tight.

[loria]

soxfan, you might be aware of this, but there is a phase 3 trial looking at the effectiveness of celiprolol in 'treating' this disorder (seeing if it can reduce the incidence of tears and the like i believe) anyway, they are due to wrap up in october of this year--so maybe it will bring some good news to your family in terms of potential therapies--

[soxfan22]

Loria, thanks for that. I believe my family is aware of that trial. They have all been up to Boston on a few occasions to meet with specialists, and have discussed ongoing clinical trials.

My cousin actually started a group on Facebook called "Live Gently". It has become some kind of success in just about a year's time. If you go there, you'll see they have lively discussions about their own stories, and possible treatments/research.

My two cousins (Mike and Zach) named the group "Live Gently" due to the ways they have had to adjust their lifestyles. They have been discouraged from weight-lifting and other strenuous activities. They are active people to their core, so they don't follow instructions completely! They still hike, bike, etc...

Thanks for the information!

[soxfan22]

When hitting the button for a donation, check to see which one of your very local non profits are participating.

I'm not sure what this means...However, like I said in my OP, there is no donation necessary (you couldn't give one if you wanted to, I don't believe)! Only two clicks of the mouse!

[promoguy]

My comment was in respect that the Chase program also supports very local non profits and maybe that would also be something someone might want to consider.

I apologize for hijacking the thread. But thought it was important to note.

[soxfan22]

My comment was in respect that the Chase program also supports very local non profits and maybe that would also be something someone might want to consider.

I apologize for hijacking the thread. But thought it was important to note.

Absolutely! I completely agree! Donate your time, resources, etc to whomever you wish!

[loria]

sox--this particular trial is going on in france--if you search thr the NIH porthole there is usually a link to search thru all clinical trials---(you probably know that) but maybe there has been some movement on this trial since your family has been put on beta blockers already....

[soxfan22]

sox--this particular trial is going on in france--if you search thr the NIH porthole there is usually a link to search thru all clinical trials---(you probably know that) but maybe there has been some movement on this trial since your family has been put on beta blockers already....

Thanks Loria...I will have my cousin take a look at that trial. There is one fella who has the condition who posts frequently on Live Gently that keeps a close eye on the various trials, and keeps everyone up to date as to their status in regards to whether or not they are meeting primary end points, etc.

I don't think their being put on the bet blocker was necessarily a reflection of any of the trials (at least of their outcomes)...I think the empirical evidence points in that direction, so when someone is diagnosed, they are pretty much automatically put on the BB.

I know one of the trials they are pretty excited about is this: http://www.news-medical.net/news/2006/04/11/17249.aspx. Sorry, I don't know how to make that a cool, small hyperlink...Anyway, they are studying Losartin in a mouse model that was genetically engineered to have the gene mutation that causes Marfan's Syndrome - which is similar to EDS.

So far, results have been promising. So we'll see!