It’s been a long time. Boo.
But, if you’ve at all followed my blog, you may recall me writing several posts regarding my journey, navigating the medical world. The journey is far from over, however, this last December I finally got concrete answers. I mean, I kind of already knew, but I needed an expert to tell me for certain (and so I had a piece of paper to hand doctors each time they claimed it was all in my head). It is actually, quite literally, in my head. As it turns out, I have Chiari 1 malformation.
Chiari is the result (at least in my case) of posterior fossa hypoplasia. The posterior fossa is the fancy bit which forms the back of the skull. Hypoplasia means incomplete or underdeveloped. So, basically, the back of my skull did not form correctly, causing crowding and eventually compression of my cerebellum (one of the important parts of my brain). Now, my cerebellum is falling out of my skull, sinking down into the little space where the spinal cord comes through. This causes decreased cerebrospinal fluid flow, as well as compression of the upper portion of my spinal cord and the compression of my cerebellum.
My brain is falling out of my head and is squished. It’s progressive and will probably kill me. It’s really, really bad.
It’s been an interesting couple of months since a neurosurgeon specializing in Chiari examined my images and confirmed what I already suspected. In the time I’ve known with absolute certainty, several different people in my various support groups have died due to complications caused by Chiari malformation. Just last week or so, a 28 year old girl died in her sleep, after a decompression surgery. It’s really scary realizing how serious this malformation is and how little the medical community actually bothers to know about it. I say this from experience.
You see, over a year ago I was referred to a neurologist because I’ve had a headache and neck pain (24/7) for the last three years. Additionally, I’ve had worsening tremors and other odd symptoms. The neurologist suspected I might have MS and ordered an MRI. Her radiologist actually discovered this Chiari malformation. But it was completely dismissed because it didn’t look bad enough. The medical community is so outdated on what Chiari actually is, there isn’t much hope or point in seeing a neurologist for this condition. My cerebellum was only herniated 7mm on the right and 3mm on the left, so it wasn’t serious enough. She basically told me “there is nothing I can do for you”. So, I figured I’d get a second opinion. I asked my primary doctor to refer to me a surgeon since I figured they would know more. My primary read the radiologist report and said, “You know, I really feel this isn’t an avenue worth pursuing, I read the report and you’re fine.”
It took me an entire year of fighting and eventually spending my own money (despite having practically the best insurance available) to get a proper specialist to look at the images and confirm just how fucking serious this was.
I sent my images to an accomplished surgeon who has treated (there is no cure for this malformation) many patients with great success. He sent me back a report with what he saw just shortly after Christmas. This was actually my Christmas present to myself, as I had to pay cash to get him to look at the images, since he is in North Carolina and I was in Alaska at the time. In his findings, he remarked at the severity of the compression and how damaged my neck was. He suggested I follow up as soon as I moved to the lower 48, due to my progressive symptoms.
Getting a diagnosis was such a relief. It’s been a fucking exhausting 8+ years, trying to find out what is wrong with me. As it turns out, Chiari 1 correlates and occurs frequently in patients with Ehlers-Danlos Syndrome — a genetic connective tissue disorder. Chiari led me to the other diagnosis I need (yet to be confirmed by an expert). I probably have EDS too, based on all of the health problems I’ve had and then there is this:
See how my arms do that freaky thing and go the wrong direction? Yeah, most of my joints are hypermobile like that and my skin is as soft as a baby’s ass. These are classic trademarks of Ehlers-Danlos. Take these trademarks, add in a congential brain malformation, chronic joint pain, random partial dislocations, weird flu-like symptoms and unexplained persistent health problems — you get Ehlers-Danlos. EDS is often underdiagnosed, or goes unnoticed for years and years, resulting in the physical, mental and emotional deterioration of a patient. Many EDS/Chiari patients give up on the medical community, feel alienated, dismissed or worse die mysteriously or commit suicide. Ask any EDS/Chiari patient, they will tell you they’ve probably been told once (or ten times) “It’s in your head. You need mental help.”
The words alienated, dismissed, trivialized, mistreated and discriminated against pretty much sum up the last 8 years of doctors visits. I’ve been told it’s psychological. I’ve been told it’s because you’re a woman. I’ve been told there is nothing we can do. I’ve been told I’m too young (whatever the fuck that means, go to any children’s hospital cancer ward you fuckwit). I’ve been told there is no reason I should be this way. I’ve been denied adequate pain management. I’ve had to fight for literally every imaging test, every blood test and every referral. I’ve lost my will and my sanity on the way. I’ve died and come back in this fight.
The fight isn’t over. I still need to be seen by a geneticist to confirm my Ehlers-Danlos diagnose and to rule out some other co-morbid conditions such as POTS, dysautonomia and tethered cord. I still need to survive and learn to manage this life. I still need to love people more, do more things and find pleasure in my desires.
After I get the necessary evaluation, then I can start thinking about brain surgery to slow the progression of Chiari malformation. Without surgery, I roll the dice on my life and there is no chance of any sort of pain relief. This probably will kill me, it’s just a matter of when. I hope to live my life as much as I can before that happens. I realized upon driving home from the post office today, I am an incredibly strong person. I’ve endured so much. I finally realized it was time to share this part of my life with you, or whoever the fuck stumbles upon this small corner of the internet. I’ve finally embraced myself and everything that has brought me here today.