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Shared Experiences

Posted May 22 2010 10:35am
The bond that exists amongst all parents of special needs children does so because of many shared experiences, even more so for me with parents of children with hydranencephaly of course! For example, unlike many more predictable conditions, hydranencephaly is different for every child and a completely different adventure for every parent. The reminder that you're not the only mother on the verge of crazy sometimes, is a wonderfully therapeutic event!  

For me, lately, I have been feeling very on the verge of crazy. There are many reasons why, most stemming from lack of sleep and the fact that every day is a prime example of that unpredictable adventure with hydranencephaly that I mentioned before. Fortunately, my current adventures are not necessarily of the medical nature, but rather a constant battle with "professionals', equipment providers, and the desire to reach out to someone somewhere that can enlighten me on more optimistic care for wherever it is that we may be heading in the next month and a half...oh, and the fact that we don't know where we'll be living in a month and a half has a little to do with the crazy adventure we are on. 

In my pursuit in knowledge information, the pursuit that is neverendingly intriguing to me, I come across various articles and persons of interest. Once in a while I'll get a wild hair and decide that I want to contact some of these people, who are likely more than overwhelmed in contacts from personal connections and colleagues to ever take a moment to read my interest in the research, experience, or medical journal they have contributed to involving hydranencephaly or similar conditions. I don't really expect a reply, ever, but the hope... with help from stories such as the one that premised the movie "Extraordinary Measures"... still exists that one day someone "important" will take note and shine the spotlight on my pursuits.

The following post, from the Children's Rare Disease Network Blog , gives me relief in knowing that I'm not the only "crazy" momma out there sending random emails to people in high places in desperate attempts for information, guidance, and maybe even a dose of greater hope:

Desperate Measures
May 5, 2010 by Debbie Vaughan
Filed under Family Life

This is one of the posts from my blog, “Coming Unglued”, about life with Ehlers-Danlos Syndrome which is a rare connective tissue disorder in which the body’s ability to produce enough collagen is severely limited due to genetic mutations. In 1998, my first husband died from the Vascular form of EDS; two weeks later my son was diagnosed with the same condition. In this form, people are prone to aneurysms, arterial ruptures/dissections, organ ruptures, and other life-threatening complications. Like most rare diseases, there is no cure – and there is no treatment. And for us, there is no way of knowing or predicting what the disease will do or when it will do it. I started blogging because I’ve found that the key to surviving this journey is in connecting with as many other people going through similar situations as possible. Raising a child with a rare disease is hard enough. Doing it alone . . . well, that’s just uncalled for.

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 about it – “Extraordinary Measures”, with Harrison Ford and that other guy from the “George of the Jungle” movie my kids still like to watch. 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 based on 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.

Last 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 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! 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 gotta’ go to work now.


Amazingly enough, I've lived that very same experience... almost as if I had written that article or this woman stole this story straight out of my mind, since I've never before shared it with anyone else. I'm happy, Debbie Vaughn, that although the diagnoses are different we are able to share this experience and the pursuit of "extraordinary measures" for our children ( I like extraordinary, rather than my descriptive of crazy ).... and know that we're not in this alone! There indeed, are M-I-L-L-I-O-N-S of us parents who are on a relentless search for greater hope in helping our children... good look on yours :)
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