Saturday, May 18, 2013

"No one can ever tell you it's in your head"

At the end of the first day of my autonomic testing, I met with a geneticist, Dr. Gene-ius (get it?). He was a cute little man in the pediatric part of the hospital. I kind of wish all my doctors were pediatricians. Their offices are just so much more friendly and FUN! I got to play with those little bead and wire puzzles while sitting in a brightly colored office with fun, comfy chairs and a really nice receptionist. I didn't get a sucker at the end, but I think that's just because I didn't ask. ;) He had sent me a new patient letter before I came to the office, and it had a Mr. Incredible stamp on it. 

Dr. Gene-iust examined me, took a careful history, asked me a long list of questions about sometimes bizarre and seemingly unrelated symptoms (most of which I experience!). He also examined my joints and skin. There is a scale of hypermobility for joints called the Beighton Scale, and it is out of nine points. I scored 9/9. Go me! ;)

Dr. Gene-ius diagnosed me with Ehlers-Danlos Syndrome. As he diagnosed me, he said: "From now on, no one can ever tell you that what you experience is in your head. It is very real." I asked him if I could get that in writing. I hadn't even told him about my experiences with doctors thinking I'm making stuff up!

Here's a picture of my flexible elbow.
All my joints are hypermobile like this.
Ehlers-Danlos Syndrome is a genetic defect in collagen, the connective tissue that literally holds your body together. Collagen is found in practically everywhere in your body - I read a statistic that 80% of your body is composed of collagen. In EDS, the collagen is much more "stretchy" than it should be. This results in a host of problems. If you Google EDS, you'll see really sick pictures of people who are very double jointed and have very stretchy skin (I couldn't find anyone on Google with elbows as cool as mine, so I took my own picture. Let me tell you, my EDS joints make great party tricks).  
You will also see that there are several different types of EDS- Dr. Gene-ius said that doctors now believe that it is more of a spectrum than 6 distinct categories, but if he had to put me in one of the categories, he would classify me as type I, or Classical EDS, with vascular and gastrointestinal features. He doesn't believe that I have the severe and usually fatal variety - if I did, I wouldn't have survived my surgeries. He thinks I fall on the "moderate" part of the spectrum. I will be getting genetic testing done (which means my mom and dad have to get poked, too) at some point to rule out some very bad genetic issues. It probably won't shed any more light on the nature of my EDS, but it might prove intellectually interesting. 

In my case, EDS is responsible for:

  • my hyper mobile, "double" joints
  • the back and ankle pain I experienced as a teenager
  • shoulder dislocations and elbow tendonitis
  • extra stretchy, transparent skin
  • fragile, hard-to access, easily ruptured veins
  • very poor wound healing (3 months on a WoundVAC and a total of 9 months for a wound to heal - expected time was less than 8 weeks)
  • stretch marks
  • "cigarette paper" scarring
  • severe reaction to insect bites
  • an extra-long tongue (I can pick my nose with my tongue!)
  • susceptibility to severe infections (my recurrent abscesses)
  • small, crowded teeth with a small palate
  • TMJ issues
  • severe chronic musculoskeletal pain
  • gastroparesis
  • intestinal dysmotility/IBS (GI pain and dumping issues)
  • hiatal hernia
  • ileostomy prolapse
  • sleep issues
  • migraines
  • insensitivity to pain medications
  • paradoxical reactions to medications
  • dysautonomia/POTS

....and it goes on and on. Essentially EVERY SINGLE weird symptom or complication I've ever suffered can be explained by this diagnosis. It is insane. With each strange question he asked ("Do you have unusually severe reactions to bug bites?" "Does it take much more pain medicine than expected to control your pain?"), my mom and I would just stare at each other in amazement. One of the most common complaints in EDS is very severe joint and muscle pain that doctors can't really find a reason for... like the severe muscle pain I experience in my neck and shoulders. I'M NOT CRAZY! ;)

The EDS is the cause of my POTS - my blood vessels, due to the faulty collagen, are overly stretchy and don't "squeeze" like they should, especially as I stand up. This results in the blood pooling in my legs and not returning to the rest of my body. I think that it's a little more complex and also involves the nerves, but I don't really completely understand how it works.

Anyways...EDS is incurable and there is no real treatment - treatment is to deal with the complications and to try to preserve function. As the faulty collagen in joints and veins becomes weaker and more stretched out over time, many people with severe EDS progress to relying on braces and wheelchairs. The joints simply become too unstable to support the body, and the dysautonomia results in an inability to remain upright without losing consciousness. Hopefully, beginning a specialized exercise program will help to stabilize my joints and build more muscle to help prevent this from happening. I will also need annual sonograms of my heart and various large blood vessels. In some forms of EDS, the blood vessels can be so stretchy and fragile that they can suddenly burst, which is fatal. Again, they doubt that I am prone to this sort of complication, but the doctors feel that annual sonograms to check for stretched-out vessels is the smart thing to do.

All in all... it was good to get some more answers as to why I have such weird health problems. It did raise some questions, such as: why hasn't ANYONE who's treated me in the past 6 years even suspected EDS? Anyways, I'm just glad that we DO know now that I have EDS. While there's no real treatment, the knowledge that I have EDS will help guide our medical and surgical decisions in the future, as well as help explain many of the rare and bizarre complications I've encountered (and likely will continue to encounter). I'm thankful that God led me to Dr. House, who suspected the rare diagnosis and sent me on to Dr. Gene-ius to confirm it. 

Hannah ;)

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