Research at Johns’ Hopkins Offers Hope for EDS

Posted on July 1, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Research Information, Treatment | Tags: , , , , , , , , |

Update – 2/4/2011:  The information contained in this article is published with the permission of EDS Network C.A.R.E.S., for whom this letter was originally written by Dr. Dietz.  It’s through the relentless pursuit and dedication of this group that this project is happening at all.  They are a fabulous group of patients, families, and friends who work tirelessly for research that will save the lives of all those affected by Ehlers-Danlos Syndrome.  I am proud to call them my friends.

 

This is a copy of a letter written by Dr. Hal Dietz of Johns’ Hopkins University regarding a study aimed at developing a way to medically manage the vascular complications such as aneurysms and arterial rupture that can go along with Ehlers-Danlos Syndrome.  For patients with these serious issues, surgical intervention can be every bit as life-threatening as the problem itself.  Finding a non-surgical way to treat such deadly complications can radically change the outcome for patients with this diagnosis.  If successful, this treatment could mean a virtually normal life-expectancy for my son’s generation of VEDS patients.

Dr. Hal Dietz

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 unless 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’s 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.

How You Can Help

When I lost my first husband almost 13 years ago, this sort of treatment was unimaginable.  I’ve spent most of the time raising my son with the fear Dr. Dietz describes so accurately in his letter; knowing that the “shoe could drop” at any time and there would be little anyone could do about it.  Reading this letter for the first time brought tears to my eyes and left me shaking; almost afraid to believe the possibility was real.

Now, with that reality well-rooted in my mind and in my hopes, I and other families facing this disorder have set about the urgent business of securing the funding needed to see this thing through to the end.  We’ve successfully carried on the backs of an all-volunteer army the difficult task of raising enough money to cover the intial investment required to begin the project.

Thanks to an online voting competition on Facebook, you have an opportunity to help us keep this research going.  The Chase Community Giving Challenge is a contest where different charities compete for votes with the top vote-getters receiving the largest grants.  First place will receive a grant for $250,000; second through fifth places will each receive $100,000 and the remaining charities in the top 200 will get a grant for $25,000.

When the contest started on June 15th we shot to first place and held on for five days, but now have fallen to fifth place and are fighting hard to stay in the top five and secure one of the $100,000 grants.   You can help us do that – and maybe make it back to #1 – by voting for EDS Today and then getting as many of your friends and family to do the same.

Rarely do  people get such a genuine opportunity to make the sort of difference they can right now by helping us secure this funding.  Voting will end on July 12th, with winners announced on the 13th.  With YOUR help, we can change the future for my son and thousands of children just like him – all it takes is the decision to do so.  Click on the picture below to get involved and help make this happen!!

Click to Vote on FB

Click and VOTE for EDS Today to help fund Research

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Survey Results: Vascular Type

Posted on May 7, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Research Information, Symptoms of Ehlers-Danlos syndrome | Tags: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |

What Vascular EDS Patients are Saying:

The symtoms and percentages listed below are from the informal online survey I’ve had posted for a few weeks now.  These results are only for the patients who identified themselves or their loved ones as having the Vascular type of Ehlers-Danlos Syndrome. 

Also, these results are changing every day as more and more people are signing on and taking the survey – what a great problem to have!  So far, a total of 270 people have filled one out. 

If you’ve already completed one, THANK YOU!!  If you haven’t had a chance yet, please do so as soon as you’re able.  The more we know and understand about ourselves, the better equipped we will be to advocate for each other and work to get the care we so desperately need. 

You can also keep up with results as they come in through Facebook; Ehlers-Danlos Network C.A.R.E.S. will be posting tidbits as part of the May Awareness campaign. 

And YES – I am going to post the list of symptoms for the other types including those who haven’t been able to have their type identified. 

Symptoms Percentage #
Family history of EDS 50.00% 30
Premature birth 41.70% 25
Clubbed foot 11.70%   7
Hyperelastic (stretchy) skin 18.30% 11
Thin, translucent skin 75.00% 45
Large or prominent round eyes 60.00% 36
Lobeless ears 53.30% 32
Sleep with eyes half-opened 58.30% 35
Flat footed 55.00% 33
Visible veins (part of translucent skin) 75.00% 45
Easy bruising 85.00% 51
Atrophic scarring 31.70% 19
Hip dysplasia 3.30%   2
Scoliosis 21.70% 13
Positive Beighton scale 16.70% 10
Hypermobility of large joints 30.00% 18
Hypermobility of small joints 48.30% 29
Arthritis 35.00% 21
Inguinal hernias 15.00%   9
Umbilical hernias 10.00%   6
Frequent nosebleeds 20.00% 12
Reynauds syndrome 30.00% 18
Numbness/tingling in extremities 33.30% 20
Migraines 45.00% 27
Chronic constipation 26.70% 16
Aneurysm or arterial complication 63.30% 38
Bowel perforation 23.30% 14

 

Important Note!!

It’s super critical to remember that just because you may share a symptom on this list does not mean you have Vascular Ehlers-Danlos Syndrome.  The official diagnostic criteria – as defined by the National Institutes of Health – is listed below:

Major:

  • Arterial rupture
  • Intestinal rupture
  • Uterine rupture during pregnancy
  • Family history of the vascular type of EDS

Minor:

  • Thin, translucent skin (especially notable on the chest/abdomen)
  • Easy bruising
  • Characteristic facial appearance (thin lips and philthrum, small chin, thin nose, large eyes)
  • Acrogeria (an aged appearance to the extremities, particularly the hands)
  • Hypermobility of small joints
  • Tendon/muscle rupture
  • Early-onset varicose veins
  • Arteriovenous carotid-cavernous sinus fistula
  • Pneumothorax/pneumohemothorax
  • Chronic joint subluxations/dislocations
  • Congenital dislocation of the hips
  • Clubfoot
  • Gingival recession
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