Tuesday, February 15, 2011

Ehlers Danlos Syndrome

I wrote this next entry while I was at my parent's house and am just getting around to posting it now. They have dial up and the internet runs under the lake! It is almost impossible to do anything on the internet while I'm there! So here it is:

Feb. 7. 2011

Today a geneticist told me I have Ehlers Danlos Syndrome (hype-mobile type). I have actually been expecting this diagnosis, but really wasn’t expecting it so soon. I have been shuffled from specialist to specialist, none so far being specialists in any of my particular symptoms and disorders. I was bracing myself for another round of interrogation followed by confused looks, and disappointment, probably on both sides; the patient who can’t be helped and the doctor who can’t help the patient. Most doctors I’ve seen have seemed quite baffled by my symptoms, and many times I have felt they are convinced I am either imagining them or making them up for the sake of some kind of twisted attention seeking game. Today was the first time I’ve met a doctor who actually said she’d seen people like me before. Although I am not without skepticism regarding some of the things she may have said, many things she said were encouraging. This is the first specialist appointment that did not result in tears sometime later that day. I can give some of the credit to myself of course! I am growing a thicker skin! 
Anyway, so what does this mean? Well, for one thing it means the aches and pains all over my body, which have become so familiar at this point it would be strange to live without them, have a detectable root cause. EDS is a group of disorders of connective tissue, or more specifically of the collagen that makes up the connective tissues in various parts of the body. In EDS, some of the genes that produce collagen are absent from the DNA. There are six major types of EDS. The hyper-mobile type is one of the more common types. The diagnosis was made based on a clinical exam, and evaluation of my symptoms as well as my medical and family history. My hyper-mobility was tested using the Beighton Score, on which I scored a 9 out of 9. And although I do get some strange bruising at times, my skin feels and looks “normal”, so I am not likely to have the classical type of EDS. The doctor said she did not see a reason to order genetic testing since several different genes can be responsible for EDS in different people, and it is sometimes difficult to locate the defective genes, and DNA testing is not needed to confirm the diagnosis in my particular case. She also said although there are several different types of EDS, there are over-lapping symptoms between the types, and individual variations. So although the hyper-mobile type is known to affect mainly the joints, I may have some involvement of  other bodily systems, which may be why I have strange bruising, Raynaud’s phenomenon, and a tear in my right retina. I am a novice at understanding EDS, but I get the impression that it is like Chiari Malformation in that it is not well understood by the medical field, and that there are disputes and controversies between and among those professionals who deal with it. 
Speaking of Chiari Malformation, oh boy, are there ever a lot of confusions and differing theories surrounding how the two disorders are linked, and how they interact in those who are affected with both EDS and Chiari. I will get into that more later.
A diagnosis of EDS also means I have more information to add to this huge puzzle I am putting together that is my life and health. I can bring this diagnosis to the kinesiologist who is helping me design my exercise routine, to my GP, and even to my Ontario Works/ODSP case worker, and it will likely help them all better figure out what to do with me. Ha ha, more work for them. However, I am going to keep using the word Fibromyalgia in some instances. It is one many people have heard before, and it is sometimes easier to for people to relate to and get a grasp of. I still fit the diagnostic criteria for FM even though the EDS is likely the cause of it. I have read Chiari can also cause Fibromyalgia symptoms. When something is a diagnosis of exclusion and the diagnostic criteria are loose, how do we know when we have it or don’t have it? I suspect other people with Fibromyalgia are suffering from other yet-to-be discovered or yet-to-be well understood musculoskeletal or neurological disorders. 
The geneticist is at least aware of the connection between EDS and Chiari, but she seems conservative in her ideas of appropriate ways to treat patients with both Chiari and EDS. There is some cutting-edge research going on, and new surgeries being designed specific to EDS/Chiari patients in places, such as The Chiari Institute, that are inaccessible to me since I’m in blasted Canada. Nonetheless, the geneticist says she is going to talk to some of her neurosurgeon “buddies” and see about ordering me some more MRIs and cerebral spinal fluid (CSF) flow tests. A CSF flow study may let me know if there is a blockage in my CSF flow, which would indicate that decompression surgery might benefit me, since a main objective of the surgery is to make more room for the CSF to flow properly. Again, I’m skeptical since MRIs are done while your laying down, and I keep reading that with EDS the internal tissues and structures shift with movement from a laying down to an upright position, and a herniation of the cerebellar tonsils (a Chiari Malformation) that is allowing for normal CSF flow while laying can plug the CSF space while sitting. The geneticist said she wasn’t aware of the availability of upright MRIs and I said I heard there is only one and it’s in Vancouver and there’s like a 10 year wait, and we laughed about it... but I wasn’t joking, they really do seem impossible to get! She said that doesn’t mean they can’t ask me to change the position of my head while in the machine to see if it changes things, as in a forward, or backward tilt, etc. I kind of wonder if she was sort of talking out her ass, but I appreciate the gesture. I think she is planning on talking to some neurosurgeons and radiologists and seeing what can be done. 
As I was saying, I was not expecting to get a diagnosis of EDS today, because that would’ve been too easy. I figured I would see this geneticist today, and she’d shrug at me like the rheumatologist, and the neurosurgeon, and the neurologists, and then I’d be off to the States to shell out several hundred bucks to an American geneticist to get the EDS diagnosis and discuss how to manage and treat the combined symptoms of Chiari and EDS. but I actually talked to a Canadian geneticist about the Chiari-EDS relationship, and she was aware of it’s existence!! She said a lot of people with EDS have Chiari malformations, but the key is determining what’s causing a problem, and what may just be a natural variation, and I was thinking: My brains are herniated almost 2cm (18mm exactly) into my spinal canal; how can that be a natural variation? People have Chiari Symptoms with less than 2mm herniations. I have read that EDS can cause instability of the head on the neck and lead to something called cranial settling which means the head is sinking onto the neck, and that may be why the brain herniates. 
Anyway!!! It was a weird day. There’s a lot to process. I am up for any tests they can run which might give me some more insight as to just what might be going on inside my body. 
It was kind of funny when the doctor said she had a foot fetish and could I please remove my socks. It was also funny the way she was staring at me and sizing me up the whole time, and how she said she liked to pinch people (to see how their skin felt of course). It was “This is what I do in my clinic, I pinch people”, or something like that. What a strange woman. Doctors are all a bunch of weirdos! What do they do for fun? Are they all over-worked and going crazy?
...I shouldn’t talk. I have some pretty weird and crazy friends. What does that say about me? Ha ha.


1 comment:

  1. Hurray for answers!!! I'm happy you finally got someone to confirm everything and to treat you like a human being!!! Wonderful post. Good luck from here on in with the treatment and testing!