Ehlers Danlos Syndrome (EDS) Network CARES (EDSNC) NEEDS YOUR HELP!

[Guest guest]

We NEED your HELP Please! Ehlers Danlos Syndrome (EDS) Network CARES (EDSNC)

Needs YOUR VOTE and as many of your family/friends as you can get, to have a

chance at winning Grant money from Chase Community Giving through Facebook, to

try and save/change lives through RESEARCH.

EDS affects 1.3 million people worldwide and 30,000 " NEW " children a year will

be born with it. EDS is grossly under and/or mis-diagnosed: some 90% of those

with EDS NEVER receive a proper diagnosis or treatment within their lifetime. We

are working to change this statistic by raising awareness and funding research.

This is the very first time there is hope on the horizon for a better

understanding of Ehlers-Danlos syndrome and potentially lifesaving treatments

for those severely affect with Vascular EDS. Please Help us by giving your

support and VOTE, so we can hopefully STOP THESE deaths, through this

RESEARCH!!!

I know all to well what it feels like to have your child die without having a

correct diagnosis or a chance at appropriate care/treatment for this type of

connective tissue disorder. Ehlers Danlos Syndrome (EDS) has endure many years

of stigma, because of an associated stereotyping linking it with the circus

(freak) sideshows of the past. This has lead to numerous deaths, and

misdiagnoses. As my son laid dying, my Pediatrician told me that they think my

son has EDS. I said, What the hell is that? He said, " It's what the circus

people have " , I said, " WHAT are YOU talking about? " , He said, " Where they can

bend in a pretzel " ...I said, " My son CAN " T bend in a pretzel. " Can you imagine

being told this?

Please check out these video and Help us make a difference for those who suffer

with EDS. Thank You!!!

This is why it's so important:

What is EDS

Vote now HERE: http://apps.facebook.com/chasecommunitygiving/charities/235097

Thank you for your time. I truly appreciate it

Sincerely,

Bowen

Enclosed is Dr. Harry (Hal) Dietz's letter concerning this EDS Research.

" Vascular Ehlers-Danlos syndrome (or vascular EDS) is a disorder of the body

connective tissue the material between the cells that give the tissues form and

strength. In vascular EDS the body lacks sufficient type III collagen, a

molecule that contributes to the strength of the skin, intestines, uterus, and

most importantly, the blood vessels. People with vascular EDS live with the

knowledge that they will die from this condition at an age ranging from

childhood to young adulthood. They are also told that there are no effective

treatments. There are no medications that are known to strengthen the tissues or

delay blood vessel rupture. Attempts at surgical repair are often delayed there

is confidence that the patient will die within hours if nothing is tried. This

is because the tissues are so weak that they often simply fall apart during

surgery " akin to trying to sew together wet tissue paper. " Of all the

conditions that I care for, I hate

this one the most. It not only drastically shortens the length of life, but also

robs people of any meaningful sense of hope and quality of life always

anticipating that the shoe will drop at any moment. Indeed, all too often

children with vascular EDS lose any sense of ambition and purpose despite truly

remarkable talents and potential. To their mind, " Why bother " .

Fortunately, there is now strong reason for hope. During the study of related

connective tissue disorders, specifically conditions called Marfan syndrome and

Loeys-Dietz syndrome, we learned that many issues, including blood vessel

enlargement and rupture, do not simply reflect an inherent weakness of the

tissues due to a deficiency of the body glue. Instead, the deficiency of a

connective tissue protein, as in vascular Ehlers-Danlos syndrome, triggers an

increase in a specific cellular signaling pathway, causing the cells to behave

abnormally and to release enzymes that break down the tissues. We have early

evidence that the same process is at work in vascular EDS. In mouse models of

Marfan syndrome we have shown that a medication that is widely used for other

purposes can blunt abnormal cellular behaviors and prevent blood vessel

enlargement and rupture, leading to a fully normal lifespan. This medication is

now in clinical trial in children with

Marfan syndrome. It is now our goal and intention to make mouse models of

vascular EDS in order to learn more about the condition and to test this and

other therapies. If someone had suggested 5 years ago that a pill might be able

to treat a connective tissue disorder, I would have considered them crazy. Given

recent breakthroughs and sufficient resources for further research, I will be

shocked if a revolutionary new treatment for vascular EDS is not in general use

within 5 years. I have already begun to share this sense of optimism with

children with vascular EDS. Our job is to bring this goal to fruition. Their job

is to begin dreaming big.

While ambitious, the proposed work directly parallels our prior initiatives for

Marfan syndrome and Loeys-Dietz syndrome. Realistically, the work could start

with an investment of $100,000. This would cover initial costs for the

development of a mouse model and the recruitment of a research scientist fully

committed to this work. Expansion of the mouse colony and completion of both

mechanistic and treatment studies would require about $200,000 per year for

three to four years. "

Harry (Hal) Dietz, MD

s Hopkins University School of Medicine

Institute of Genetic Medicine