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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