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 %
Tenascin-X Deficient 0%
Type not specified 9.5%
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 %Read Full Post | Make a Comment ( 1 so far )
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.Read Full Post | Make a Comment ( 5 so far )
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.Read Full Post | Make a Comment ( 8 so far )