Emily’s Hope: A Lesson for Us All

Posted on November 14, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Life's Lessons, Related Disorders | Tags: , , , , , , , |

The WHOLE WIDE WORLD should knoEmily's Smilew 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.Emily and her mother, Jody

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.



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Research at Johns’ Hopkins Offers Hope for EDS

Posted on July 1, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Research Information, Treatment | Tags: , , , , , , , , |

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.

Dr. Hal Dietz

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!!

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The Council of Mothers (and a few devoted dads)

Posted on June 27, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Life's Lessons | Tags: , , , , , , , , , , |

The Council of Mothers (and a few devoted dads) convenes as necessary in the wee hours of the morning, the midday afternoon on holidays, the Tuesdays after checkups and at all other times deemed necessary by its members. Together we share one another’s questions, worries, and our greatest common fear – the loss of our children. 

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.

Click to VOTE for EDS TODAY

Click and VOTE for EDS Today to win $250k for research!

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

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Letting Go . . . a little bit . .

Posted on May 10, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Life's Lessons, Uncategorized | Tags: , , , , , , , , , , , , |

Standing shoulder to shoulder with hundreds of other parents this past Monday on what turned out to be an absolutely sticky afternoon, I waited with my son as the crowd behind us pressed in.  Sixth grade students  from all over our county had descended on a parking lot to embark on the week they’d been looking forward to all year:  The Washington Trip.

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.

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Survey Results: Vascular Type

Posted on May 7, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Research Information, Symptoms of Ehlers-Danlos syndrome | Tags: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |

What Vascular EDS Patients are Saying:

The symtoms and percentages listed below are from the informal online survey I’ve had posted for a few weeks now.  These results are only for the patients who identified themselves or their loved ones as having the Vascular type of Ehlers-Danlos Syndrome. 

Also, these results are changing every day as more and more people are signing on and taking the survey – what a great problem to have!  So far, a total of 270 people have filled one out. 

If you’ve already completed one, THANK YOU!!  If you haven’t had a chance yet, please do so as soon as you’re able.  The more we know and understand about ourselves, the better equipped we will be to advocate for each other and work to get the care we so desperately need. 

You can also keep up with results as they come in through Facebook; Ehlers-Danlos Network C.A.R.E.S. will be posting tidbits as part of the May Awareness campaign. 

And YES – I am going to post the list of symptoms for the other types including those who haven’t been able to have their type identified. 

Symptoms Percentage #
Family history of EDS 50.00% 30
Premature birth 41.70% 25
Clubbed foot 11.70%   7
Hyperelastic (stretchy) skin 18.30% 11
Thin, translucent skin 75.00% 45
Large or prominent round eyes 60.00% 36
Lobeless ears 53.30% 32
Sleep with eyes half-opened 58.30% 35
Flat footed 55.00% 33
Visible veins (part of translucent skin) 75.00% 45
Easy bruising 85.00% 51
Atrophic scarring 31.70% 19
Hip dysplasia 3.30%   2
Scoliosis 21.70% 13
Positive Beighton scale 16.70% 10
Hypermobility of large joints 30.00% 18
Hypermobility of small joints 48.30% 29
Arthritis 35.00% 21
Inguinal hernias 15.00%   9
Umbilical hernias 10.00%   6
Frequent nosebleeds 20.00% 12
Reynauds syndrome 30.00% 18
Numbness/tingling in extremities 33.30% 20
Migraines 45.00% 27
Chronic constipation 26.70% 16
Aneurysm or arterial complication 63.30% 38
Bowel perforation 23.30% 14

 

Important Note!!

It’s super critical to remember that just because you may share a symptom on this list does not mean you have Vascular Ehlers-Danlos Syndrome.  The official diagnostic criteria – as defined by the National Institutes of Health – is listed below:

Major:

  • Arterial rupture
  • Intestinal rupture
  • Uterine rupture during pregnancy
  • Family history of the vascular type of EDS

Minor:

  • Thin, translucent skin (especially notable on the chest/abdomen)
  • Easy bruising
  • Characteristic facial appearance (thin lips and philthrum, small chin, thin nose, large eyes)
  • Acrogeria (an aged appearance to the extremities, particularly the hands)
  • Hypermobility of small joints
  • Tendon/muscle rupture
  • Early-onset varicose veins
  • Arteriovenous carotid-cavernous sinus fistula
  • Pneumothorax/pneumohemothorax
  • Chronic joint subluxations/dislocations
  • Congenital dislocation of the hips
  • Clubfoot
  • Gingival recession
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First Results from EDS Survey

Posted on April 28, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Research Information, Symptoms of Ehlers-Danlos syndrome | Tags: , , , , , , , |

In early 2010, I created an online survey for patients (or their family members) to complete.  The idea was to gather some basic information on ourselves as a community because the better informed we are, the more capable we are to advocate for ourselves and our loved ones. 

So far, more than 220 surveys have been completed and more are coming in every day.  I’m leaving the survey open in hopes that one day it will include at least 500 responses.  I am trying (desperately) to figure out a more efficient way to share some of this with everyone, but for now, just a straight out post will have to do.

If you haven’t taken the survey, please go to the page titled “EDS Survey” and click the picture for the link.  You can also complete one on someone else’s behalf – as long as there is only ONE survey per patient. 

SO – without further delay . . . .  here’s a little bit of info from what folks are saying so far.

Type of EDS:

Out of 225 completed surveys,  the breakdown in types goes like this –

Classical 18.4 %

Hypermobility  46.4%

Vascular  24.1%

Kyphoscoliotic  1.4%

Arthrocalasia  0.5%

Tenascin-X Deficient 0%

Dermatosparaxis 0%

Type not specified 9.5%

 

Symptoms:

Remember, these reflect answers from ALL of the respondents.  I’ll try to provide breakdowns on symptoms by type as soon as I can.

Family history of EDS – 46.4 %

Premature Birth – 31.5 %
Clubbed Foot – 5.4 %

Hyperelastic/stretchy skin – 50.0 %

Thin, translucent skin – 59.0 %

Large or prominent round eyes – 28.4 %
“Lobeless” ears – 19.4 %
Sleeps with eyes half-opened – 28.8 %

Flat footed – 55.4 %

Visible Veins – 71.2 %

Easy bruising 80.6 %

Atrophic scarring – 48.2 %

Hip dysplasia – 18.0 %
Scoliosis – 33.8 %

Positive Beighton scale – 54.1 %

Hypermobility – large joints – 78.4 %

Hypermobility small joints 80.6 %

Arthritis – 51.8 %

Inguinal hernias – 7.7 %
Umbilical hernias – 6.3 %

Frequent nosebleeds – 25.7 %

Reynauds syndrome – 7.3 %

Numbness/tingling in extremities – 57.7 %

Migraines – 62.6 %

Chronic constipation – 43.2 %

Aneurysm / arterial complication – 19.4 %

Bowel perforation – 5.9 %      
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TAD Coalition – The Ritter Rules

Posted on March 29, 2010. Filed under: Awareness, Ehlers-danlos syndrome, Related Disorders, Symptoms of Ehlers-Danlos syndrome, Treatment | Tags: , , , , , , , |

Actor John Ritter

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. 

TAD Coalition.

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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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Cardboard Walls

Posted on February 6, 2010. Filed under: Ehlers-danlos syndrome, Life's Lessons, Uncategorized | Tags: , , , , , , , |

A friend of mine told me once about an experience she had soon after she lost her husband.  She was at the family’s home, the day of the funeral, and was mindlessly shaking hands, nodding at people’s condolences, and smiling as best she could.  An older woman who my friend knew only remotely took her by the hand and offered to sit with her a while.  Respectfully my friend sat listening as the woman shared her thoughts on how to get through “this difficult time”

“Your husband was such a good man”, and “It’s all going to work out”, were phrases my friend had heard a million times, and she thanked the older woman for her support and encouragement.  But as the woman stood to leave, she looked at my friend with all sincerity and said, “and don’t you worry, honey; you’re still young enough – you’ll catch another man soon!”

Knowing what to say or do when someone’s world falls apart is one of the hardest things in life we face.  Watching it fall apart from the beginning is even harder.  Instinctively we are driven to help; to patch up the cracks, to stop the leaks; to try in our feeble way to keep the walls from crashing down.

Eventually we’re all confronted with a friend, family member, co-worker, or loved one who is experiencing a tragedy or loss of some sort.   It leaves us there  squirming in uncertainty while we try our best to comfort to the person we care about.  Our hearts are in the right place; we really do want to help; but our emotions, our mouths, and our good intentions very often get in the way. 

Luckily, what most of you won’t have to face, at least not early in your life, is being on the receiving end of some of those well-intended but ill-conceived efforts.  Most of you reading won’t be the person left to open and read the sympathy cards in solitude or paint on a smile so you can  greet visitors at your spouse’s funeral, or listen to reasons and explanations for why this awful thing has happened.

But for me, it’s an experience I know all too well.  I think most of my friends and many of my acquaintances know I was widowed at the age of 29 with a 9-week old son, after my husband lost his life-long battle with Ehlers-Danlos syndrome.  What I don’t always talk about however, is that eight months later my mother died unexpectedly due to an illness that came on suddenly; she was only 56 and in otherwise good health.  Six years after that, my father and his new wife were taking a day-trip with friends to one of Georgia’s coastal islands when his plane crashed about a minute after take-off.  All of this happened within eight years. If I hadn’t actually lived it, I would think it was a cheesy-movie-of-the-week script idea.  But since I have experienced all of this, I hope I can at least give a unique perspective on the process to those watching their friends go through it from the outside. 

My sister-in-law and I used to joke around and say one day we would write a book called “What Not to Say at Funerals” because over the course of Josh’s illness and in the weeks following his death, we heard some really wierd stuff.  Many things people said could easily be laughed off and dismissed as well-intended but poorly planned; but then there were some that really, truly hurt.  So in hopes of avoiding an unintentional injury to your friends, my advice can really be summed up in one simple theme:

Above all else, respect the person who is going through the illness/grieving –above your need to say something meaningful, to express your own faith, or come in and rescue them from their despair. 

Many times in our rush to ease their pain we completely miss the fact that we are, in actuality rushing to ease our own pain.  Seeing someone’s life spin so blatantly out of control can stir up our own  heart-stopping fears, causing us to then work frantically because we need to feel secure again.  No one wants to be reminded how frail life really is; no one wants to dwell on the idea that anything can happen at any time.  Many people spend lifetimes building and hiding behind all sorts of walls to weather life’s storms; and to avoid being reminded that we really have no control over much of our lives.

What can happen though, when we are put in a place to watch someone going through it, is that it pushes an internal panic button for people who’ve devoted so much time to their walls – regardless of what those walls are made of.  Whether it’s a specific religious belief,  a superstition, a concrete sense of right and wrong, a philosophical sense of reciprocity, or even fairy tales for that matter – we build those walls because we need to feel like we have some control; deep down we’re terrified of swapping places with the person we see suffering.  In our frightened state, and usually out of genuine love and concern, we sometimes attempt to pull our friends in our little fortress with us.   Like children who build houses out of cardboard boxes, in our misdirected optimism, we truly believe our shelters will survive what ever may be coming; we have it “figured out” – we just need to convince our friend or loved one.   

But trust me – for the person standing in the middle of the storm – they’ve already had their own walls stripped bare and flattened a long time ago; they have no interest in getting into another house made of cardboard.  They see up close the inescapability of the storm and what they want and need more than anything is for their friends, their families, to come stand out in the wind and the rain with them; not tell them how to make the storm go away, not tell them how the storm isn’t really coming.  But unfortunately, those friends are sometimes blinded by their own fears. 

“If only they would believe what I believe . . .”

” If only they would try this kind of treatment . . . “

“If only they would try one more doctor . . .”

“If only they would let this person pray for them . . .”

“If only their faith were stronger . . . “

. . . . . as if we knew. 

The problem is the other half of those “If only’s”.  They are usually sub-conscious and usually go something like this:

“If only they would (choose any of the above) . . . . .

          then the horrible thing won’t happen . . . .

                  then the world will make sense again . . . . .

                            then I won’t be scared anymore . . . .

                                            then I can feel safe and go back to my life.” 

The day Josh died I remember almost nothing of what people said to me.  What I do remember clearly are the faces that filled the hospital hallways, the hands that wiped my tears, the arms that tried to stop me from shaking.  I remember the friend who sat in silence with me covering me with blankets because I was unable to stay warm.  I remember the arms that held me up and walked me out of the ICU when he was rushed to surgery.  I remember the friends who came to sleep beside me so I wouldn’t have to face the nights alone. 

Comfort comes from actions; not from words.  Resist any urge to explain, encourage, or “cheer them up” in the face of life’s biggest mysteries. The best thing you can do for people is to  just be with them – wherever they are; if they cry, cry with them; when they sleep, stay near; when they rage, validate them; when they are scared . . . hold their hand.  And if your mouth opens, close it. 

Stand with them in the storm, let yourself get drenched alongside them, brace them against the wind, and most importantly, be there when its over – when its time to rebuild their lives.

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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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