Musings of a Marfan Mom

Support Ehlers-Danlos Syndrome Research!

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Today I write on behalf of my friends with Ehlers-Danlos syndrome, a disorder related to Marfan syndrome. There are multiple types of EDS (affecting 1.3 million people worldwide) and NONE have real treatments available to them, let alone cures. One of the most serious of these, vascular-EDS, is particularly close to my heart.

At the end of my freshman year of college, during a routine exam, my geneticist said he was SURE I had vascular-EDS. He was reluctant to give me any details about the illness until I threatened to go home and Google it myself.

He was hesitant because vascular-EDS is a death sentence. With vascular-EDS, aneurysms develop anywhere in the body and organs can spontaneously rupture. There is no way to predict when this will happen, nothing to do to prevent it. The average life-expectancy is in the mid 40s. Children have died from just doing a cannonball into the pool.

However, hope is on the horizon, and that’s where YOU come in. The Ehlers-Danlos Syndrome Network has been named a finalist in Chase bank’s Community Giving Challenge. They are up for a $1,000,000 prize. What would this money do for the foundation? Well, Dr. Hal Dietz has designed a “mouse model” of Marfan syndrome (basically, mice with Marfan). Our mice have dramatically increased doctors’ knowledge of Marfan syndrome, such that we now have an average life expectancy. The prize money would allow Dr. Dietz not only to create a mouse model of vascular-EDS, but to do other EDS research as well.

Go here to vote for the EDSN!!! Then, tell all your friends!

[youtube=http://www.youtube.com/watch?v=pmrF8Uh-Hyk&feature=player_embedded]

Below, please read what Dr. Dietz has to say:
Vascular Ehlers-Danlos syndrome (or vascular EDS) is a disorder of the body’s 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…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.”

Harry (Hal) Dietz, MD
Johns Hopkins University School of Medicine
Institute of Genetic Medicine

THANK YOU! Together, we can make a difference.

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One Comment

  1. Thank you for your support of Ehlers Danlos Syndrome Network CARES. My daughter has this disorder, and her first diagnosis was that she had Marfans. I immediately contacted your foundation and learned a great deal about it. We later were told it was Ehlers-Danlos sundrome but she is listed as marfanoid habitus in her diagnosis. The disorders are indeed closely related. This mother thanks you for your Musings of a Marfan Mom.
    Thank you!

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