Luke’s brothers~ Skeeter and Russell, and sister Deanna, all also have Chiari malformation. Skeeter has had 5 brain surgeries, Deanna a decompression surgery last January, and Russell had his first surgery this past August.  Russell is also affected by EDS and syringomyelia (a fluid filled cyst within the spinal canal).

We are blessed to have a large family and we were chosen to take care of such special children. While some of the children are affected by these rare diseases they all look out for one another and especially Luke.  He is very precious to them and with his PKU his diet is very strict and a metabolic formula must be consumed each day. They are all very careful and watch him closely.

So as you can see our home is full of adventure and needs. We are truly blessed and have an overwhelming sense of love and protection. They may all have rare diseases, but the diseases don’t have them.

Some of its wisest members are the mothers and fathers who’ve already crossed that chasm once and who, instead of turning their backs and continuing their lives in the opposite direction, fix their eyes on those of us still walking this treacherous road and on our children; pouring their hearts, their souls, their experience and all the love they had for their own children into ours.  

Such wisdom only comes from life’s hardest lessons learned, and theirs – regrettably – are lessons they can now apply only to the children of others.  It is their hindsight, their regrets, their “If I had it to do overs” that serve as the only road map available for this journey of ours.

Many in our group serve as surrogates, knowing they’ll have no children of their own because they’ve chosen not to risk passing on the disease that brings us all together. With all their strength and determination, they walk along with us, loving our children as their own – loving us as though we are family. 

There are also several others who, like me, do not carry this disease but who loved someone who did; someone whose grave we stood beside and to whom we said “goodbye” far too soon.  And now, like living in a land where we do not speak the language, we are raising our children as best we can, hoping to choose wisely, and wishing that we bore the pain in the place of our sons and daughters.  

The collective wisdom and experience this Council brings to bear serves as our reference when any of us, as I did recently, face a new experience with our children and have nowhere else to turn.  As is the case with virtually all rare diseases, there are precious few in the field of medicine who, though they may have the best intentions and sincerity of effort, can offer any actual valid guidance. 

At even the most prestigious well-respected hospitals and institutions, very few doctors or surgeons will have seen a child or adult with a body like theirs.  While some may have a vague memory from medical school about Ehlers-Danlos Syndrome, almost none will have diagnosed it themselves — not through any lack in their qualifications as a doctor, but simply as a result of the rarity of the disease.

Sounding the Alarm 

On a Tuesday night a few short weeks ago around 10:00 p.m. I was the one sounding the alarm, posting on our internet support group a message about my son.  For our children, and for the adults living with Vascular EDS, virtually all sports and activities are off-limits.  Because of the high-risk of injury, aneurysm, organ and arterial rupture that follows them their entire lives, very few athletic options are available.   But, in hopes of finding a way around that difficult reality, I’d signed him up for a community swim team that a few of his life-long buddies are on.  He’s always loved swimming and being able to do something he loved in a team environment was definitely a chance worth taking. 

After the first night’s practice he was understandably tired, but he was also excited and quick to tell me how much fun he’d had.  The coaches had already moved him up to the intermediate group where most of his friends were placed and I could hardly wait to share the good news with my friends online. 

But before I’d had a chance to share my excitement, the moment was gone. After the second night of practice, reality crept back in and like the stupor following a night of drunkenness, I felt sickened by the dizzying truth of what his body can actually handle. My son was in pain; his jaw was hurting and difficult to open.  His shoulder, which has become increasingly loose-jointed over the last year, was in more pain than he’d had so far.  He came to me quietly when no one was around and this normally very active boy, who just one night before was bursting with joy and anticipation at the possibility of a team sport he could enjoy with his friends, told me with tear-filled eyes he didn’t want to go back – he couldn’t go back – because the pain was too much. 

By the time he finished telling me about it, I learned it was more than just his jaw and shoulder; it was his knees, his ankles – all of which are dependent on the one ingredient his body cannot give him — collagen.  Aside from his vascular system, his joints will pay the highest price for this deficiency; possibly bringing on arthritis as early as adolescence – as early as now. 

Once the kids were in bed, I grabbed my laptop and retreated to my bedroom – ignoring all other responsibilities for the night.  I sat alone on my bed and went looking for what has now become my lifeline; a close-knit group of people formed over time with others just like me – desperate for guidance and understanding. 

I typed at a furious pace; ignoring the tears of anger running down my cheeks. “How dare this damn disease take something else from him!” was running across the screen of my mind like one of those annoying crawls on T.V.  How was I supposed to handle this?  Should I take him to the doctor?  Did he need to go to the dentist?  Or, was this just “normal” muscle pain from a new activity?  Would taking him to a doctor or dentist even do any good?  What were the odds they would even be able to give me good advice?  What experience could they possibly draw from to help me sort this out?  The stream of words became a flood of anger, confusion, and pure, raw emotion – and without worrying how any of it may have “sounded”, my rational mind was no match for my mother’s heart that was breaking – again – for the losses my son has endured, and will endure, throughout his life.   

Having thoroughly emptied myself into this cry for help, I sat back on my pillows and took a long, deep breath.  Still utterly confused, and now emotionally drained, I could relax just a little knowing I’d sent up my flare; knowing someone would see it, and knowing help would soon come.  

Within the hour I received my first response from a mother in Canada who’d lost her son seven years ago at the age of 13.  He had experienced chronic jaw pain off and on in the weeks before he died from a thoracic aortic aneurysm.  As has been the case in many such messages, regret was the tone of her voice; telling me now what she had intended to do but never got the chance.  She had been concerned about his jaw; she’d planned to take him to the doctor, but then one night it was over.  At home in his bedroom with her son in her arms, she held him as he closed his eyes and slipped away from her.  Her pain was as evident now as it surely must have been that night when the unthinkable settled in on her and her family in the most merciless way. 

She was quick to remind me it didn’t mean that’s what my son was dealing with, and didn’t want to frighten me; but she also felt compelled to let me know the possibility was out there and until I’d gotten her email, I’d never known that jaw pain might be a symptom of something serious.

By the next afternoon and throughout the week, I had more replies than I could keep up with.  Mothers and fathers, husbands and wives, and people who are living with VEDS offered their words of encouragement, caution, and something to lean on while I struggled to find my way through this.

In spite of the distances that separate us, it was as though this Council had convened on a moment’s notice someone’s living room or around a dining room table to figure out this problem as a team.  As the week wore on, my anxieties began to ease with each new message I received.  I read each word gratefully– keenly aware of the price at which their experience had come. Bought with the pain in their own lives and the lives of those they love, paid for with grief and regret, theirs are the words I cannot ignore.  Theirs are the words I must not ignore.

With all the frustrations and disappointments that go along with raising a child with a rare disease, having this group has meant the difference in my level of sanity more times than I can remember.  Whether or not I ever lay eyes on them or find out what their voices sound like, I know without question they are with me.  In the doctor’s office, the emergency room, or in my own home facing another night racked with insomnia–at any hour of the day or night–I can ask for help and someone will be there.   I know I am no longer alone – and next to a cure . . . that’s the most imporant thing.

Great Opportunity!!

EDS Today is competing in the Chase Community Giving Challenge on FB to win up to $250,000 for research. 

We WERE in first place for the first five days, but have been bumped down to 5th – and could use your help moving back up. 

The first place charity at the end of the voting gets $250k; the groups in 2nd, 3rd, 4th, and 5th will each get $100k. Goups ranked below 5th place will get $25k. 

You can help us out and cast your vote by clicking on the picture.  You’ll get 20 votes to use in the competition, so look for others you’d like to help out.  After you’ve used the first five votes, you’ll get a “gift vote” and can use it to vote a 2nd time for EDS Today. 

Please share the link and information with as many people as you can.  The competition lasts until July 12th – winners will be announced on July 13th.  We need as much help as we can get generating some buzz and getting those votes coming in! 

Many thanks!

Debbie Vaughan

Me & My Monster (2007)

Like all the other parents, I was excited, nervous and a bit scattered from the days of preparation and packing – reminding my son over and over what to do in a dozen different situations.  He’s 12 now; and definitely has the eye-rolling, shoulder shrugging thing down pat.  He finds his own ways to show his love – but clearly . . . open affection at the parking lot that night was not one of them.

I did sneak half a hug before he climbed the stairs to board his bus, and handed off his suitcase to the men loading the compartments below the seats.  Then clutching my Little Red Binder, I turned to the chaperone who was checking students off as they boarded. She smiled as she recognized me from our meeting earlier in the week when we’d gone over his medical condition.

First I handed her the Ziploc bag with his daily medication in it – explained when it would be time for the next dose, and then – referring to the binder – told her “everything else is in here”.  The Little Red Binder I still hadn’t let go of contained 13 years worth of documentation on my son’s rare genetic condition – Vascular Ehlers-Danlos Syndrome.

Inside that binder was every letter I’ve ever received from a doctor or lab – including the one with his original diagnosis.  There are copies of emails from doctors at Johns Hopkins and the NIH; and CD’s which hold images of his entire vascular system as well as the intricate soft tissue of his recently repaired right knee.

Watching from the crowd of parents as he darted back and forth on that bus – trying to save seats for his friends– it was very easy to forget that the Little Red Binder was even necessary.  Day to day he goes through life at warp-speed; only slowing down long enough to grab a snack, get involved in one of his gadgets, or torture his sister a little.

To see him with his friends, you’d never in a million years guess what lurks within the tiniest fibers of his tissues – or, rather, what doesn’t lurk.  Collagen.  It’s the “glue” that tissue relies on to stay in tact.  The disease he inherited from his father robs his body of this critical element needed to hold itself together.  But no matter how “normal” he looks, the same activities that may be just part of “normal boyhood” can lead to  tragedy for him.

I try not to dwell on it, and most days the reality of it is so far in the back of my mind I have to remind myself  some things are too risky for him.  But – risks aside – I wanted him to go on this trip – I wanted him to have this experience.  And for months we’ve been focused on is how much fun it would be.

However, that Monday night, standing in the warm, muggy air, reality was impossible to ignore as I looked at the chaperone waiting to take the binder from me.  I was surprised by how much I didn’t want to let go of it.  And when I finally did the old, familiar Cold ran through me; taking up residence somewhere between my heart and my stomach.

Denial is a funny thing  I suppose.  Looking back on it now, as long as I was the one holding the binder, I was still in control.  But letting go of it . . . putting that control in someone else’s hands . . . meant it was real.  No matter what he looks like on the outside – this is all real.   The whole experience drove home another reality for me:  I don’t have much time left as “the one” who makes the decisions.

He saw me lingering in the parking lot and gave me one of those “Geez mom, you’re embarrassing me” looks and as I turned to leave, it was clear to me that he really is going to grow up and I really won’t be able to monitor and watch over him like I do now.

A very dear friend of mine who passed away earlier this year from the same disease offered me his advice several years ago on what he felt was the best way to approach raising my son with this unpredictable disease.  Being an active guy himself who’d just come through some major health crises, he told me the hardest thing I’ve ever had to hear on this subject:

“Debbie, you’re going to have to learn that this is HIS disease – not yours. It’s his body and he will have to learn his own limits.  All you can do is offer him guidelines, but in the end – it’s up to him to limit himself.”

I still bristle at the advice – not as much as I used to though.  But, like everything else Glenn ever told me on this subject, it’s turning out to be completely right.

I’m trying, Glenn – I really am trying.

To read more about my story or Vascular Ehlers-Danlos Syndrome, you can visit my blog called “Coming Unglued” at: www.ddvaughan.wordpress.com

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.

Damn.