Oh dear
(bread and beer| if we were dead | we wouldn't be here) it's been a super long time since I've posted. My b my b. =(
So much to say and so little time (especially since I'm 'sposed to be catching up with my school work).
To catch you up with what's been going on...:
"Last time on 'The Story of A Girl'..."
She was hurt; she had fallen and she couldn't get up.
Left to die on the cold tile floor of her bathroom, covered in makeup...
Until...she got up.
Her brand new white bathroom rug was covered in carnage--makeup everywhere.
Her back was bleeding, her ribs aching, her head pounding.
She had been sick for awhile now...
With no explanation for what was causing all of the seemingly unrelated health issues
No explanation until....
She saw a specialist.
This is her story.
This is "The Story of a Girl"
(cue intro music)
Hehehe. It made me giggle, therefore it has to be funny, because it's not like I'm biased or anything! Lol. Annnyyyywhhooo...I finally found out what's wrong with me, and apparently, has been wrong with me my whole life. Alas, if only my family would have listened to me one of the ba-ba-ba-bazillion times I told them something wasn't right....like the time (one of many) I told my dad that it felt like my hip was popping out of place (of course he responded that wasn't possible); apparently, not only is it possible, it's been happening to me for years! My shoulders are even worse (as are my knees, elbows and wrists); I can pop those babies out of place just by moving normally. Nothing says "I'm an old lady trapped in the body of a 22-year-old college student" quite like having your whole body smell of Bengay and then...snap, crackling, and popping louder than a bowl of Rice Krispies as you kneel down on a kneeler in Church...next to an old lady whose body is much quieter than yours.
Damn...I got off track again (typical). Like I said, I've known for years something wasn't right and I didn't think it was a coincidence or just bad luck that I had continuous health issues. I figured it was all related, since the chances of them not being related seemed next to impossible. In the last couple of weeks I've researched some things and guess what, I correctly diagnosed myself with a rare genetic disease. (Of course, my parents thought I was just being a hypochondriac and even now they aren't *quite* believing..."oh 'they' of little faith). I originally suspected I had a condition known as Marfan Syndrome, but after ruling that out it was pretty obvious, to me at least, that I had Ehler-Danlos Syndrome.
When I met with my geneticist he confirmed it: I have Ehler-Danlos Syndrome or (EDS). It's a pretty rare genetic connective tissue disorder. When I told some of my so-called-"friends" that I'd been diagnosed, they thought it meant it affected my skin...(and also that I was an attention whore and a hypochondriac...as well as some other things that might offend some readers).
So let me clarify, connective tissue is everywhere in the human body. Ever hear of collagen? Yeah, the type of EDS that I was diagnosed with (though I think they got the type wrong) occurs because of "a defect in the synthesis of collagen". This defect affects my joints (the ligaments and tendons around it), my blood vessels, my organs (including my skin), etc. People don't seem to think this is a big deal, but people with EDS are at a much higher risk for aneurysms (including abdominal aortic aneurysms); this is a common cause of death (among those with EDS) most often seen in a person's 20's and 30's. EDS also affects the heart and the brain (in the brain it can lead to migraines, and POTS...both of which I either have or am suspected of having). As I age I'm most likely going to develop osteoarthritis (if I don't already have it) and osteoporosis. I could list all of the health issues that come along with EDS (like delayed gastric emptying, acid reflux (both of which I have)) but we could be here for a very long time. So suffice it to say: "my shit's fucked up" (pardon my French)
The great irony is, not only is what I have rare, but among people with EDS, the degree of hypermobility (or range of motion greater than normal) I have in almost all of my joints, as well as the number of joints the disease affects and what joints it affects (notably my spine and neck...and every other major joint) is EXTREMELY rare. So basically I'm a freak among freaks :-p. My sister had come with me to my appointment and she said, "we did't need a doctor to tell us you're special...we've always known you were 'extra special'." It made me laugh.
I have mixed feelings about my diagnosis...it's nice to finally have a diagnosis because I can quit searching and now I have resources and a community of support (the Ehler-Danlos National Foundation); it's also allowed me to let go of the past and start living in the present because, honestly, who knows how long I have left; who knows how long anyone has left? I've learned life is too short to worry about hurtful, rude people or makeup for that matter. It's too short to waste any time at all. I contemplated taking a semester off of school but then I realized, I don't want to waste time, even time taking care of my health, because I want to be a doctor and I feel like I'm already racing an hourglass that is far from full. Of course, I've talked about all of the good things; I feel like the bad things are pretty obvious: having an incurable, relatively untreatable genetic disease sucks! I'm going to be in constant pain my whole life, and chances are, it's going to get worse. I don't know how much longer I'm going to be able to pretend I'm a normal healthy college girl; how much longer I can keep faking it. I don't even know how much longer my joints are going to hold up because, right now, I feel like throwing in the towel and getting a wheelchair my hips hurt so badly.
I have learned though, well, I suppose I have ALWAYS KNOWN, that someone always has it worse and that complaining does absolutely nothing, except, of course, pissing off my mom and dad. I took care of a man who had what I consider to be the worst disease in the world: Amyotrophic Lateral Sclerois (ALS) or Lou Gehrig's Disease. It is the worst way to die, robbed of your ability to walk or move at all, talk, eat, or even breathe unaided, and through it all being in constant pain with seemingly endless muscle spasms.
And the life expectancy after diagnosis? 1-3 years *typically* after diagnosis, although lately I've heard about quite a few people who died within months of diagnosis. But the man I took care of, Stuart, never complained (he was able to talk by sacrificing some of his air (he used a smaller trach tube even though it meant he could never get enough air)) instead he spent his remaining time on Earth helping others: writing letters with messages of hope, volunteering with the ALS Association, being a mentor to me, etc.
I'm going to try much harder to live the way he taught me to live. He always told me: "do well my gift" and that's what I'm going to do with whatever time I have been given.
My plan? Go to class and learn all that I can, work to help those with ALS and their families, make people smile, go to doctors' appointments and physical therapy, become a doctor so I can help people with ALS...I'm going to do well (with a smile on my face).
(so...don't cry for me...blog readers(?))
Thanks for listening. Have a fantabulous day!
--Jennie the Nerdette
