Posted on November 14, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Life's Lessons, Related Disorders | Tags: Celiac disease, EDS, EDS IV, Ehlers-danlos syndrome, gastroparesis, Rare Diseases, Vascular Ehlers-Danlos syndrome, VEDS |
The WHOLE WIDE WORLD should know there is a girl in central Florida with a beautiful smile, and an even more beautiful soul whose name is Emily and who is in very, very poor health right now. To say she is fighting Vascular Ehlers-Danlos syndrome would be serious enough; but for Emily, vEDS is just one small piece of a very complicated medical puzzle. Emily is only 18 years old but has spent a great deal of her young life in and out of hospitals due to the relentless combination of diseases she is battling.
What struck me cold and left me speechless last year, was reading a post on Care Pages in which she tells her story. She not only writes about her diagnosis with VEDS, but also of her life-long struggles with surgeries and ongoing complications and all with such an honest optimism that I found myself hoping with her; genuinely hoping – not just that she’d get home from the hospital that time, but that she’d experience a quality of life she’s been chasing for as long as she could remember.
There isn’t a single shred of self-pity or cynicism in the story that she tells, and in an instant I was acutely aware of my own petty, ridiculous list of complaints. Yes, I’d lost a husband to this awful disease; and yes, I’m fighting for my own son’s life in his battle with it . . . . but here before my eyes, staring back at me from my computer were the words of someone who’d only known life from within the walls of a body bent on destroying itself. And laced throughout this unbelievable story was a tangible, indisputable hope.
I subscribed to her page and have eagerly read every post her mother has written over what will soon be a year as she describes the ups and downs they’ve experienced; and, for a while it seemed things were going very well for her. But recently, the news has been getting progressively worse and I’m noticing a steadily growing knot in the pit of my stomach every time there is an update.
It’s easy from a distance, from a life still undisturbed by tragedy, to throw hope around like confetti or magic fairy dust. Saying things like, “hang in there” or “it’s going to get better” comes easily to many and for the most part is sincerely meant to encourage those who are struggling. But when the ground you’re standing on has vanished from beneath your feet more than once, words like those are empty and useless – the sound of them can actually become painful; and saying them is something that you’d never in a million years consider doing. Real hope on the other hand, is another matter altogether.
It is a precious, rare, and fragile thing;
it is a gamble on getting hurt-
on knowing damn well what the odds are,
knowing damn well that things don’t always work out,
and managing somehow to allow yourself to risk it anyway.
I suppose that’s the point of hope when you think about it. If it were as simple as saying “I know it’s going to be fine – there’s nothing to worry about ” well, then, you wouldn’t need hope in the first place, would you?
Who better than a young woman like Emily would understand the odds, the history of disappointments, the risk involved in letting herself hope? And yet, there in her own words, it’s unmistakable. Reading her incredible story, I felt the unfamiliar sprouts of hope growing in my own closely guarded and cynical heart.
To my own surprise, I began to envision a life for her, for my son, for the thousands of children and adults like her. For the first time in nearly 13 years I couldn’t hold back the hope. It floated up within me like a balloon finally released from the tight grip of a child’s hand.
Watching it take flight, I saw more clearly than I have in years that while I cannot control the battles that come, I can choose to keep my heart and my eyes open to the possibilities.
I am hoping for Emily’s recovery. I am hoping for her life to finally take off and blossom. I am hoping for her to know the freedom and quality of life she’s dreamed about. I am hoping for her mother and her father to see their daughter strong and healthy again. I am hoping for Emily to live. Not just to survive, but to LIVE.
There has been a lesson for me in these last several months as I’ve read their stories; and that is to remember that hope is never wasted; it is not some easily found nor easily kept trivial state of mind. It is an essential part of surviving any of life’s hardest things, regardless of how long or short our lives may be. It is as innocent as any dream we’ve ever held dear and flies in the face of all the ration and reason we work hard for as adults.
Though hope itself holds no real power over outcomes in our lives, it does hold power over our hearts and minds. Hope sets the tone for the way we live each mysterious day, all of which we spend in anticipation of the unpredictable , uncontrollable events awaiting us all.
Posted on July 1, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Research Information, Treatment | Tags: aneurysm, arterial complication, arterial rupture, EDS Research, EDS Type IV, Ehlers-danlos syndrome, Marfan Syndrome, Vascular Ehlers-Danlos syndrome, VEDS |
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.
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!!Read Full Post | Make a Comment ( 3 so far )
Posted on March 29, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Symptoms of Ehlers-Danlos syndrome, Treatment | Tags: EDS, Ehlers-danlos syndrome, John Ritter, Loeys-Dietz Syndrome, Marfan Syndrome, Rare Diseases, Research, VEDS |
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.Read Full Post | Make a Comment ( 1 so far )
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.Read Full Post | Make a Comment ( 2 so far )