Sunday, July 6, 2014
A Year of Changes: Introducing VEDS
I thought I'd share a little of what has happened to me for any newly diagnosed with Vascular Ehlers Danlos Syndrome. I know that reading other people's stories online really helped me feel like I wasn't all alone. Even though each of our stories are unique and EDS is different for everyone, I always found the common experiences among the threads gave me comfort. Within them I could see not only my own physical/ emotional challenges - but also what my mom went through before she died and what my children are going through now as they face early diagnosis in their teen years.
Like many people with VEDS, I had early issues that weren't recognized as being a genetic disorder. I didn't walk until I was 2, I fell and bruised easily and always had sprains and strains. By the time I was 12 I had migraines and days when I felt like my knees belonged to an old lady - but I never thought it was unusual. By the time I was in my twenties, I had to have surgery on my varicose veins and my thin corneas had ruptured requiring transplants, but again, I didn't think it was anything more than luck. Everyone on my mother's side of the family had those kinds of issues so to me, it was a norm. (Even our long, bendy fingers and toes. I thought everyone could do those weird tricks.) When I had my babies - my body suffered and I required extended stays in the hospital due to massive bruising and tearing.
By the time I was in my thirties, the headaches became severe and my body hurt all the time. I knew something was wrong and I began wondering if it was something genetic from my mom's side, specifically Lupus or something else auto-immune, but every time I went to the doctors I was told my blood work was fine. Some doctors suggested Fibromyalgia while others mentioned depression. I had come from a background where you respected your doctors and I assumed they were right and I was wrong. Although I didn't feel down, other than my ailments I had a wonderful life, I thought maybe depression was all it was. My mom had passed away so young at 52 from an aneurysm in her brain, her sister at 51, and her mom at the same age from one in her heart - I just thought if I made sure to never drink alcohol or smoke, I would be better off, that maybe their young deaths could be altered by life choices. But then when I was 38 I began to cough up lots of blood and although the doctors couldn't explain why, I knew something was happening that was bad and it was only a matter of time until they figured it out.
Last year in June (2013) I was working really hard at my new job as an instructor at a day program for the mentally disabled. I had been their eight weeks and loved it, but every night when I would get home I would collapse in pain. My body and head were just hurting so much. I would need to nap for a while before being able to get up and cook dinner. On the evening of June 26, I noticed that my stomach was aching after I had my nap. For years I had been complaining to my doctors about GI issues so I figured I would take some Tums and not worry about it. The pain wasn't touched, instead it kept me up all night. I went to work again the next day, still chewing on antacids. and the same thing, constant throbbing in my abdomen that would come in waves. Even my new boss who I wanted so desperately to impress spotted the wincing. A group of my coworkers were complaining of a stomach bug being passed around the office, so I assumed that was my problem. I went home and tried sleeping it off, but I couldn't rest. I wondered if it was truly a bug or if something was happening to me as a result of coughing up all that blood for two years. I couldn't help but think of my mother and how her death shocked our family. Although she had been sick for years, she never actually had a diagnosis. As I lied there, I knew I didn't want to die, I just didn't know what my future held.
Finally, the next morning, Friday, June 28th, I called in for the first time and even though I didn't want to, I went to the walk in clinic. I figured I better get a doctor's note just incase whatever was hurting my stomach was still come a problem on Monday. I knew they had GI cocktails, and thought that would work better than the Tums. After two hours in the waiting room, I described my symptoms in detail. Honestly, I felt like I was having a baby. Like contractions were occurring every couple of minutes. The doctor there tried to press on my stomach and I almost hopped off the table. She sent me straight to the ER with the instructions to go there without stopping for a drink or to eat. I was so upset I called my husband crying. Partially because I was scared. but also because I was upset that I would have to pay for the ER visit, and I would have to wait in another waiting room when all I wanted to do was go home and sleep. It makes me shiver at myself looking back. How often do we skip getting medical help in the US because of costs? Or because we are too busy? Or too tired?
When I got there the doctor was waiting for me because the walk-in clinic had called and said I was coming. I guess they thought I had an obstruction because they ordered a CT Scan. The defining moment for me was when they showed me a picture of my aorta and right iliac and they were dissected and on the verge of rupturing. I was shipped to Hartford and in ICU quicker than I could blink. The whole time I kept thinking - what if I had stayed home and tried to sleep it off? What would have happened to me? What would that have done to my children? To my husband?
During the surgery the right iliac ruptured and not only did I get my aorta stent, but a femoral-femoral bypass. Other things happened while I was there - all sorts of tests to explain what was going on. A bunch of other aneurysms were spotted (some in my head, others in my abdomen), blood work was done, a nice bout of pancreatitis popped up. I went home after ten days only to return the next morning because I developed a grapefruit sized seroma wound on my right groin where the fem-fem bypass graph was. I required a thigh length muscle flap to fill in the massive hole left behind. I endured the greatest pain of my life during that time. Some of my memories are fuzzy because of all of the drugs, but my family and doctor assure me it is a blessing that I cannot remember. He said that y operation was even ore painful than having the ribcage cracked open for open heart surgery. All I know is my body wouldn't heal and the tissue kept dying. I had seven operations during that four week span before they gave up and decided to do wound vac therapy because I couldn't heal.
My doctors were vigilant about diagnosing me. They had an entire team of different specialists performing tests and asking questions. They reached out to the genetics department at the University of Connecticut with all of their results. It was apparent I had Vascular Ehlers Danlos Syndrome which is a rare connective tissue disorder that is especially tough on arteries, blood vessels, and other hollow organs. Not only is it dangerous with the median life expectancy of 48, but it is passed on in an autosomal dominant pattern making the chances of getting it 50/50 if your parent has it. My mom fit the profile - aneurysms, clubbed feet, joint laxity, big eyes, small stature, thin scalp hair, and varicose veins. As did others in her family - our family. I remember asking my doctor to write down the name of the syndrome on a little piece of paper I had in my hospital room. After everyone had left,I lay there staring at that name. I just couldn't fathom how this disease had changed every hope and dream I had for my future. I still have that little slip of paper tucked away in a drawer. Sometimes I come across it and when I look at it, I still can't believe it.
After those weeks had passed I found myself at the Hospital For Special Care. I was in no shape to go home although I wanted to more than anything. I had gone from an active mother working five days a week to an old 40 year-old using a walker and needing help bathing. The unit I was on was filled with elderly people - most on ventilators and unable to communicate. When I wasn't receiving my therapy which was Monday through Friday, I was mostly alone in my room. My husband and children would come every couple of days to visit, but other than them, I was alone. It was during those quiet hours that my experience with doubt and anxiety began to haunt me. Would I die young like my mom? Would I even make it to 52? Did I almost really die? I was frightened, lonely, and in severe pain. I used the free Wi-Fi on my Kindle to learn about my VEDS. I reached out on a support group site through the Ehlers Danlos National Foundation to others and it helped some. My healthcare team at rehab knew nothing about VEDS so it was a relief learning the whole truth about the syndrome instead of the sugar coated truth my vascular surgeon had described. Meanwhile my family was falling apart at home due to the stress of not having me there to hold them together. My bodies connective tissue was failing and I guess I was the connective tissue for my family and without me, they were failing. Even though months have passed, they haven't been the same. I know I sure haven't. Maybe we all need more time, but I know that the thought of going back to rehab terrifies me. Maybe because it has only been a year. The entire situation was horrid for my children and my husband as it was for me.
It still is, I guess.
Finally, on Aug 28, I went home. I had visiting nurses, occupational therapy, and PT at home. I was there for ten days when my spleen ruptured. That surgery was tough. I ended up having more pancreatitis, a case of acute gout, and a permanently dislocated toe from that stay. Ten days later I went home and came back 6 days later for a pulmonary embolism. Since then, I have been hospitalized four times. Most recently my heart has been giving me trouble. I have a new aneurysm on my left anterior descending artery that is in tough shape. I also had a small intestine resection surgery that had complications due to the VEDS.
As hard as all of that has been physically, it is nothing compared to the emotions of it all. I needed some counseling to help me cope. I had so much guilt that I needed to come to terms with. Guilt for judging my mother's alcohol dependence when now I can see why she was looking for a means of coping. (Through all of the tests and family history we realized she had it as well.) Guilt for no longer being able to work and help my husband provide for our children, for not being able to keep promises, for being away all summer when my family needed me, and so on. I needed to learn to accept the fact that I can't walk without use of my cane and even then, sometimes I can't even manage with that and need my wheelchair. But, the hardest of all, is the guilt I have given this to my children.
The DNA tests for them are scheduled on Aug 5th. Now that I have my exact mutation, the lab should be able to find out if they have it. Fortunately my youngest is adopted so I don't have to worry about him, but the next up, my 17 year-old son, is coughing up blood and has had tendon ruptures and easy bruising, as well as, many other little things that the doctors believe may be evidence of VEDS. As for my oldest, she suffers from ulcerative colitis which is from my husbands side of the family, so a big part of me is hoping that she won't have my VEDS, too. But the truth is, VEDS won't care. It does not discriminate. It does not matter how tough your life is when it strikes. You can have nothing but the clothes on your back - it is like a coiled snake in that way, just waiting to strike. I don't know what will happen with them, but I know that I'll stay by their sides through it.
I discovered a study on aortic dissections taking place in Boston. The study is specifically looking at genetic factors for the condition, including VEDS. I emailed the geneticists involved and right away received an invitation to come to Boston to participate. Maybe nothing will come of it, maybe they will just take our blood and send us on way. But, I must keep trying to find someone willing to help us. It doesn't even matter if it is too late for me, if my children can receive treatment, it is worth anything. Maybe the geneticist knows of a medication that my doctors are unwilling to try. Like the beta blockers for example. I have mentioned it to almost everyone that I've had see me that beta blockers are being prescribed to VEDS patients, yet none of my team have even offered them.
With summer now here, I can't help but recollect about last summer. How long my stay was, how close I came to death, how some people were there for me, while others were not. I remember trying to roll onto my left side despite the 24 inch incision and tubes running out of my right leg and groin - just so I could a glimpse of the sunrise out my window. I knew that every new morning I got to witness was a gift. It was one more chance at a life I almost missed out on.
Some days remain harder than others. Some days I feel like I am an old-pro at VEDS and then there are other days when I feel like I am hearing everything for the first time. I try real hard to be positive when talking to my doctors, to my family and to my few friends. I try not to let them see the darkness I sometimes find myself in. It is too much to bare. Yet, it isn't a bad thing to know how you will probably die. I have given myself permission to tell others that I'm sorry and that I forgive them. I allow myself to wear anything I want at any time - even if my style resembles that of a 14 year-old. I get to put stock in the little things and make them matter. I enjoyed Christmas like it was my last and I watched the 4th of July fireworks with awe and amazement. Maybe they will be last, maybe I have twenty more years in me, but I'm not so sure the old me would have enjoyed those moments with the same amount of wonder. You don't truly know you're living until you discover you're dying.
Some of the good to have come out of it all is:
1) The validation that I'm not crazy.
2) The understanding and forgiveness I have for my mother.
3) The motivation to find long lost family members and share the family DNA results (which was needed).
4) New friends from afar with VEDS.
5) An appreciation for the small blessings in life.
If I can encourage anyone with my story, it would make me happy. If I can ask you to take something advice with you, it is to kiss your husband every day. to tell your children that you love them and that they are enough for you just the way they are, it is to call your parents and tell them how proud you are to be their child. Don't take this life for granted.
If you would like to learn more about Ehlers Danlos Syndrome, please click HERE.
To read specifically about Vascular Ehlers Danlos, otherwise known as EDS Type 4, please click HERE.
As always, feel free to send me messages or ask questions.