Research Information

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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First Results from EDS Survey

Posted on April 28, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Research Information, Symptoms of Ehlers-Danlos syndrome | Tags: , , , , , , , |

In early 2010, I created an online survey for patients (or their family members) to complete.  The idea was to gather some basic information on ourselves as a community because the better informed we are, the more capable we are to advocate for ourselves and our loved ones. 

So far, more than 220 surveys have been completed and more are coming in every day.  I’m leaving the survey open in hopes that one day it will include at least 500 responses.  I am trying (desperately) to figure out a more efficient way to share some of this with everyone, but for now, just a straight out post will have to do.

If you haven’t taken the survey, please go to the page titled “EDS Survey” and click the picture for the link.  You can also complete one on someone else’s behalf – as long as there is only ONE survey per patient. 

SO – without further delay . . . .  here’s a little bit of info from what folks are saying so far.

Type of EDS:

Out of 225 completed surveys,  the breakdown in types goes like this –

Classical 18.4 %

Hypermobility  46.4%

Vascular  24.1%

Kyphoscoliotic  1.4%

Arthrocalasia  0.5%

Tenascin-X Deficient 0%

Dermatosparaxis 0%

Type not specified 9.5%

 

Symptoms:

Remember, these reflect answers from ALL of the respondents.  I’ll try to provide breakdowns on symptoms by type as soon as I can.

Family history of EDS – 46.4 %

Premature Birth – 31.5 %
Clubbed Foot – 5.4 %

Hyperelastic/stretchy skin – 50.0 %

Thin, translucent skin – 59.0 %

Large or prominent round eyes – 28.4 %
“Lobeless” ears – 19.4 %
Sleeps with eyes half-opened – 28.8 %

Flat footed – 55.4 %

Visible Veins – 71.2 %

Easy bruising 80.6 %

Atrophic scarring – 48.2 %

Hip dysplasia – 18.0 %
Scoliosis – 33.8 %

Positive Beighton scale – 54.1 %

Hypermobility – large joints – 78.4 %

Hypermobility small joints 80.6 %

Arthritis – 51.8 %

Inguinal hernias – 7.7 %
Umbilical hernias – 6.3 %

Frequent nosebleeds – 25.7 %

Reynauds syndrome – 7.3 %

Numbness/tingling in extremities – 57.7 %

Migraines – 62.6 %

Chronic constipation – 43.2 %

Aneurysm / arterial complication – 19.4 %

Bowel perforation – 5.9 %      
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Paper Mountains

Posted on January 30, 2010. Filed under: Life's Lessons, Research Information, Uncategorized | Tags: , , , |

Surely everyone deals with piles of paper in various corners of  their home; or, at least I like to think I’m not the only one.  It occurred to me this morning while searching for my glasses (my cat is fond of knocking them off my nightstand) and I paused to straighten a pile of papers on the floor beside my bed, that what is not so common is the fact that in this pile of childrens’ drawings, school assignments, random phone numbers, receipts, and long forgotten bills, were several pages of articles from obscure medical journals about microbiology – regenerative medicine – procollagen synthesis – aortic aneurysms, etc. 

Every morning and every night I see that stack as I step over it getting in or out of my bed, but this morning for some reason,  I saw the irony of it.  There on my hands and knees, near-sighted and vulnerable, I realized for the first time (at least consciously) how incredibly and starkly unfair it all is – and that somehow in the last 12 years it has become so commonplace to me that most mornings I never even notice them.  For a moment I was amused at the thought- then was reminded of the injustice of it all.    And then, way back against the wall I saw my glasses – good try cat, but not good enough.

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Desperate Measures

Posted on January 26, 2010. Filed under: Awareness, Related Disorders, Research Information | Tags: , , , , , , |

It’s strange what being the parent of a child with a rare, life-threatening or debilitating genetic disorder can do to a person.  There’s even a movie out right now about it – “Extraordinary Measures”, with Harrison Ford and that other guy from the “George of the Jungle” movie my kids still like to watch.  You’ve probably seen the previews; it’s about a dad who quits his job to partner with a scientist and push the science to develop a life-saving treatment for the disease.  Oh yeah – it’s a true story. 

Its’ also the kind of story that people like me look at and think “Wow! That’s just like what we go through with EDS.”  Haven’t actually seen it yet, but that is actually what I think.  That is actually what I hope for someday. 

Long before the movie was made, families like this have been doing extraordinary things in their quests to find treatments and cures for their children; whether to save their lives or at least improve the quality of what life they have left.  And long after the movie is forgotten, the newly inducted members of this ever-growing group of parents will continue to lie awake at night wondering which medical journal, which doctor, which article has the missing key to their child’s disease.  They will feel driven to do it; they will feel compelled to do it, and they will feel heart breaking guilt when they do not succeed. 

One thing you find yourself doing, especially now that the internet has exploded with untold treasures of medical research just waiting to be mined, is sifting through long, wordy and usually incomprehensible research articles that may contain even the tiniest connection to your child’s disease.  Every once in a while, if you’re very lucky, you may even see a story of someone with the disease on T.V., or a doctor testing a new treatment which holds promising possibilities. 

That’s when your mind starts to whirl, flying through every scrap of information you’ve ever memorized, looking for the elusive missing pieces.  That’s when you get a little more desperate than usual (you’re always desperate), which is what happened to me a few weeks ago. 

In December, I saw a story on 60 Minutes about breakthroughs in a field called “Regenerative Medicine” in which doctors use different methods to trick the body into growing or repairing missing or damaged tissue.  My heart pounded in my throat as I watched – was I really hearing and seeing what I thought I was?  Could this be true?  I imagined all sorts of implications for my child and the millions like him around the world.  I knew my very basic knowledge of cell formation was too limited to know if this could be for us or not.  So I did what any other parent of a child with a rare genetic disease would do: I hopped on the internet. 

For about three days I scoured websites, located all major research institutions in the U.S. exploring this field, AND – talk about hitting the jackpot – I found the emails of several of the doctors featured in the story!!  (It’s not that hard, really).  So, again, I did what any self-respecting-parent-of-a-child-with-a-rare-genetic-disease would do – I sent out about ten emails to prominent doctors at prestigious institutions – I was making cold-calls (or whatever it’s called for emails). 

I came to my senses a couple of weeks later when I had received no replies and remembered that there are M-I-L-L-I-O-N-S of families going though the same thing as me, and surely no less than two-thirds had probably done equally as desperate things.  More than likely, the servers at those hospitals had crashed from the influx of emails from parents like me.  Oh well, at least I’d taken a shot at it, right? 

But then . . . out of nowhere – I got an email response from a vascular surgeon who works with the Institute for Regenerative Medicine in Pittsburgh.  HOLY COW!  I skimmed it faster than my mind could read – looking for key words, like “possibility” and “hope” or “promising potential“, but found none. 

The email essentially said that as of right now there are no applications for the treatment in Ehlers Danlos patients, and they simply didn’t know about the future.  And then he told me how to take care of a child with vascular Ehlers-Danlos syndrome; at least he was covering his bases.  So – I moved on, and threw myself into the Chase Giving Challenge on FB and pretty much forgot all about the other emails. 

But today, when I opened my inbox, there was an email I thought was from another EDS patient I’d been told was going to contact me.  I opened it quickly, started skimming, and soon realized that – OH MY GOD – (OMG is not adequate in this situation!) it was a reply to the email I’d sent to the doctor on whom the majority of the 60 Minutes story was focused. 

Heart racing, adrenaline pumping, I backed up and started re-reading; actually reading this time.  O.k. – it was from his associate – he was helping respond to emails – they were very backed up after the show – just like I thought – blah, blah, blah – and then, the meat of it.  Which I’ve copied for you here:

Re your specific inquiry…

1.      None of Dr. Badylak’s research has specifically addressed your area of interest

2.      While ECM shows substantial promise to repair damaged tissue, I do not envision that it would be effective in reversing the root cause of your son’s affliction 

3.       ECM and tissue engineering in general, offer promise to treat tissue defects, but the use of such procedures would require surgical interventions.”

 The rest was “thank you for your interest”, “blah, blah, blah”, “etcetera, etcetera,” – balloon popping . . . .bubble bursting . . . . . eyes getting teary . . . heart breaking all over again. 

Where the hell is my coffee?

I have to go to work now.

Damn.

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