Treatment

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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TAD Coalition – The Ritter Rules

Posted on March 29, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Symptoms of Ehlers-Danlos syndrome, Treatment | Tags: , , , , , , , |

Actor John Ritter

Named for actor John Ritter, who died from an aortic dissection, the Ritter Rules offer practical guidelines for patients to equip themselves with and increase their chances of accurate diagnosis and treatment.  There are many diseases and risk factors at work, just one of which is Vascular Ehlers-Danlos Syndrome, but other genetic syndromes and lifestyle issues also put people at risk. 

Take a few minutes to go over these; share them with friends and family.  So many of these deaths are preventable but without the right information, survival is a lot less likely. 

My husband died from an abdominal aortic aneurysm but also suffered other arterial dissections and complications that weren’t diagnosed early because his symptoms were misread.  Inform yourself and the people you love so that you’ll never find yourself in that awful situation. 

TAD Coalition.

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The Other Side of the Nightmare

Posted on March 18, 2010. Filed under: Ehlers-danlos syndrome, Life's Lessons, Treatment, Uncategorized | Tags: , , , , , |

Twelve months ago I was forced to face an idea that terrified me.  Our local orthopaedic surgeon who was treating my son for the ACL tear in his right knee was telling me – in front of my son no less – that surgery was the only way to stop the worsening damage, keep my son out of pain, and keep him out of a wheelchair in adulthood.  He may as well have loaded a pistol, cocked it, and pointed it at my son’s head.  That was the feeling – that was the terror I felt all the way to my toes. 

“Surely he’s not serious”, I thought to myself, trying to maintain my composure.  “He doesn’t understand . . . . surgery could kill my son . . . he’s supposed to know that”. 

The dialogue in my head was  nearly audible; like trying to carry on a conversation with a radio blaring right beside me.  All my sirens, all my warning bells, red flags, you name it – were on high alert and that whole “fight or flight” mechanism we still carry around in our DNA was in Warp-Speed-Turbo-Drive-Mama-Bear-Mode.  The doctor continued talking calmly, telling us what “bad shape” the knee was in; that the injury had  worsened and his knee would continue to deteriorate unless we fixed it. 

Surgery was the one thing I feared more than anything else for my son.  Having lost my husband eleven years earlier, the geneticist who’d guided us carefully through that awful time gave me sobering, direct instructions with regards to my son’s care once he was diagnosed with the same life-threatening disorder. 

“Never allow him to have surgery – of ANY kind – unless it is to save life or limb; surgery is every bit as life threatening for your son as it was for your husband.” 

His words have been my mantra for all these years.   I learned some terribly difficult lessons during my husband’s illness – this is one I would make sure to remember.

Having surgery is so dangerous to my son and thousands of others like him because of the disorder he inherited from his father, Vascular Ehlers-Danlos Syndrome (VEDS).  For patients with VEDS, the soft tissues of the body – the skin, ligaments, etc. – and most importantly the veins and arteries that make up the vascular system are seriously compromised and weaker than in the rest of us.  The skin may not hold sutures, the tissue could tear severely, and even minor trauma could cause rupture of vessels, arteries, or organs.  Many VEDS patients are living with serious aneurysms and dissections and are NOT having surgery because of that risk.  How could I possibly consider surgery for a knee injury?

Two months and about five specialists later, including a surgeon at Children’s Hospital in Boston at Harvard Medical School, I was getting one clear, consistent message.  If I did nothing, if he continued to live with a torn ACL and torn meniscus, the outcome would be very poor.  Most likely, more tissue would tear, he would have more pain, less mobility, and start developing arthritis as early as his late teens.  As it was then, his knee was going out on him almost daily; with torn bits of tissue getting wedged between the bones in his leg preventing him from either straightening or bending it completely.  He could be standing perfectly still, turn to go in another direction, and be on the floor in a moment with no obvious cause. 

Figuring out what to do and then doing it was one of the hardest decisions I’ve ever faced.  However, once I started to research a little, I found some groups online for families with EDS, and I reconnected with old friends whose lives are touched in one way or another with Vascular EDS.  Some are patients who live with serious complications; some have survived unbelievable surgeries – procedures that were unimaginable when my husband was alive.  Many are parents just like me; raising kids with this horrifying disease and fighting like hell to get good information and find a cure.  Some are parents who’ve already lost their kids because there wasn’t enough information, or worse, because there was no diagnosis.  And yet they fight on for the rest of us, and for our kids; they put their hearts back out there on the line and risk getting them broken all over again just to make sure we and our children have a chance.

From where I sit now, safely on the other side of that nightmare, I am filled with wonder and gratitude.   I am filled with wonder at how I even got here; how such terror and late night panic attacks actually led me to the bravest group of people I’ve ever had the good fortune to know. 

My husband, my family, and my friends all have always given me their full support; but no one understands the heart-stopping reality of this disease better than someone who’s had to bury someone they love because of it.  Or someone who lives life everyday not knowing if the pain in their side is just a pain in their side or if the aneurysm they’ve been carrying around for years finally giving way.

In twelve months’ time, I’ve learned more about the possibilities of science and of the things regular people can accomplish when completely committed to a cause and to each other.  I’ve met more people living “normal” lives with Vascular EDS than I ever dreamed.  People I have never seen face to face and whose voices I’ve never heard – have fought this battle with me – cheering me on; giving me crucial information that in some instances probably saved my son’s leg if not his life.  So much of surviving Vascular EDS depends on the patients themselves and their support of one another.  As much as medicine and science is doing to help us all, without the open, loving support I have witnessed and experienced first hand, far more people would be lost. 

Years ago, before my son’s knee got worse and I found this dilemma staring me in the face, I debated the question of how involved I wanted to be with other EDS families; whether or not it even made sense to open up myself to more hurt.  Plainly put, whether or not I could handle getting close to someone who I could lose.  Could I survive that kind of grief again?  Did I even want to try? 

What a stupid question. 

It is only through opening my heart and risking that pain that I have found comfort; that I have found solidarity and been freed from the loneliness I lived with all those years.  Yes, it scares me.  And yes, it hurts – but isn’t that the point?  Being scared and being hurt are part of life – whether disease is in your life or not.  Being alone doesn’t have to be.  Why on earth would I choose that?  My life is indescribably richer, fuller because of  people who opened their own hearts, who willingly risk getting hurt themselves. 

Without them, without their late night emails, their obscure medical articles, their understanding, their crying with me, laughing with me, setting me straight when I needed it . . . I would still be terrified and alone.  I know enough about this disorder now to understand that undoubtedly there will be times in the future that I will again be forced to face my worst fears, that I’ll experience the paralyzing terror that comes when your child is in danger.  But now I also know, when that time does come –  I’ll not be facing it alone. 

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