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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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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What the heck am I thinking???

Posted on January 26, 2010. Filed under: Life's Lessons | Tags: , , , |

Why in the world I think I have time to blog is beyond me – but then again, I’m not that good at managing my time.  I just know that I always have a LOT to say when it comes to this subject; probably too much to say if you ask my family. 

There’s not much point in going in to too many details right now about how I wound up here;  it’s too close to my bedtime for that.   What matters at the moment is that I AM here; stuck in a life with a “rare” disease in my family that turned my world  upside down 12 years ago and still has it spinning sideways most of the time. 

It is called Ehlers-Danlos Syndrome; Vascular Ehlers-Danlos Syndrome to be specific and for 12 years I have alternately ran from it, hidden from it, raged at it and completely ignored it.  It occurred to me this past year that it doesn’t seem to care what I do; IT isn’t going away. 

So here I am . . . in a staring contest with the monster in my closet – waiting to see who’ll blink first.  I am, for the moment, over the terror it used to evoke in me, and more than anything am really, really pissed off at it.  It took a good friend of mine two weeks ago – someone who was doing well; who was supposed to make it longer, you know – beat the odds.  But the damn thing snuck up on him and got him in his sleep. 

Walking away from my friend’s funeral, after having shoveled dirt on his casket, I could feel the anger starting to rise inside me – again.  I don’t mean the normal-part-of-grieving-anger.  I mean the anger you feel when you’ve been hounded for years and finally get sick of it.  Like when the scrawny little kid on the playground eventually snaps and goes crazy on the bully – beating him to a pulp. 

Maybe I’m just finally tired of being bullied; maybe I’m realizing that staying huddled in a corner with the blanket over my eyes is far less safe than I had thought.  It is what it is – whether I hide or not.  I might as well stand up – stare it straight in the eye – and give my best shot. 

But for now, it’s my bedtime – conquering the monster will have to wait til morning.

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