Before I continue with the Background series I want to say something about this blog. I think it’s human nature to want to say something to convey to people that we care in the matters of health and wish there was something we could do to help. The classic response is almost always “I’m Sorry”. Which I find to be a bit funny considering the circumstances have nothing to do with anything anyone has done…but the sentiment is what matters. Then there is the other side where folks doubt, or get impatient with your health, think you use it as an excuse or who knows what (I have had far too many run ins with people like this). Anyways I have been flooded with comments from so many people the last week with the first. I want to stress I started this blog to help others, but obviously first provide the background of my experience. I cannot thank you all enough for your comments and well wishes. I only hope that as I move forward with this project I can offer help to anyone who may be in the face of chronic illness, the medical system, or who knows what; anything to help avoid some of the tough times, I and many others have gone through. Thank you all very much.
This kidney surgery worked. Things were looking up. I was still passing stones and dealing with infections but those I could handle. The pain was under control and I felt I could get my life back. It was time to move back home, be close to family and find a job. We found an apartment close to town, I interviewed and got a job, my commute was close and being back in a large city would be a relief with the fantastic med center we had here too!
Since I didn’t have great experience with Nephrologists I found a urologist in town who was well versed in MSK. I still see him today every few months for a check up. He is the best doctor I have ever had. Dr. Richard Kim (aka Dr. McHotty – according to a few friends of mine that have been in the hospital with me on several occasions and met him). I was settling quite nicely to my new job, which came with decent benefits. Bella was in day care and I was happy to be close to family and friends and feeling much better than before. As things have gone since my medical history began, once something is resolved, something else tends to pop up. And so it did. At this point I would start becoming immune to going from better to worse. The cycle never changed, so why should I be surprised? I just needed to learn to embrace the roller coaster, enjoy the good times and fight through the bad.
About two months in to the new job things started happening again. New symptoms I hadn’t really experience before and a few familiar symptoms that scared me. I started getting pain in my legs again. Similar to that of when I was in college. Around this point I had started exercising as well (noticing a theme here?). The pain started out very minimal but would continue to increase over a matter of a few months. Tingling in my arms and legs came next. That’s when I decided it couldn’t wait anymore and I needed to see a doc. Before making the appointment, one night I awoke with excruciating pain in my legs. We called 911 and I was accompanied via ambulance to the hospital. For the first time in my entire life I was treated by an ER doctor that was sincere and gave a shit about the “big picture”. He did not treat just my immediate symptoms but took an entire history. He was keenly interested in my full history and made a point to tell me that I needed to get more information on my genetic background. He said “First lets get this taken care of, one thing at a time!”. He noted, as I already knew, that I had some bulging discs (What the doctors focused on when I was in college). Then he surprised me. “This is not causing your problems. I don’t know what is but I am going to send you to an Orthopedic doctor who is a friend of mine, top notch guy!”. Little did he know, or maybe he did, that this guy would change the course of my entire medical mystery and outlook.
Doctor Henry Small, spinal orthopedic specialist and surgeon. I made an appointment the next day to get in as soon as I could. Dr. Small was anything but what his name describes. He was very “Hollywood”, california beach boy looking, with a very big personality. He greeted me with a sincere smile, sat down and said “ok, tell me what’s going on” as he propped his feet up on the table. I walked him through my entire history. He was extremely puzzled but interested in the mystery. He said “Well for everything you have, and have been through at least you look great right?!”. I found that to be a bizarre comment but brushed it off. Yea…sure… He walked me through a series of functionality tests I did in the room and discussed the X-rays and MRI’s I would need to complete. “We’ll get you scheduled as soon as possible.”. As soon as possible didn’t come soon enough. My symptoms were worsening rapidly. I noticed my hands would all of a sudden weaken and start to shake. I would get these tremors in my hands where they would cramp up and my fingers would close up and I had no control over them. Sometimes for a minute and sometimes for 30 minutes. I called the doctor to tell him about these symptoms and I could tell he was extremely concerned to hear this. My MRI was moved up to a few days, but there was nothing he could do without seeing the scan to know what was going on.
After the tests were complete I went right to Dr. Smalls office. Other than the herniated discs, he could not explain what would be causing the symptoms. “I must be missing something.” he paused, “You mentioned being tested for connective tissue disease correct?” “Yes” I replied. “They said they think I have something but did not have enough to go on to diagnose.” He stood up and said “I’m sorry to have to say this, but I want to do another MRI… I cannot quite see they very top of your neck and want to take a look at your head as well. I have a hunch, it’s a stretch and not likely but let’s give it a shot and see what we find.”. I had the next set of MRI’s a few days later.
Before my follow up with Dr. Small I was at work, sitting at my desk… a normal day. It was a better day, I hadn’t noticed my symptoms were particularly bad that day. As I was typing my screen began to blur. The blurring was in and out, I felt light headed, and then it got to the point where I could barely see. I panicked, took a deep breathe and just sat there. I could see just not clearly. I honestly don’t remember if I just sat it out or if I called someone while it happened. It lasted about 20-30 minutes until I regained my full sight again. I made a call to someone, probably my mother, and then to my doctor so he could note the new symptom. I probably should not have been driving after this happening but I did anyways… I am already a terrible driver what the hell! haha
The results were in. Doctor Small walked in with a disc of my images. “I want you to step outside here and look at these with me.”. He showed me a detailed scan of my head and neck. “Do you see this area here at the bottom where the brain intersects with the neck? These are the brain tonsils. Yours are lower than the average person, sitting just a bit too far down into the neck and cutting off your cerebral fluid flow.” He pulled up an image with contrast to display the limited flow. “Right now it seems to be minimal, but it is there. I am not an expert in this by any means but I believe you have Arnold Chiari Malformation.” I was completely clueless, I was trying to absorb what he was saying but I just couldn’t. He proceeded to tell me this is typically something you are born with, the scull can form to quickly, you typically will have a smaller head (that made sense! i have an insanely tiny head, I can fit into kids hats) symptoms can come and go with this condition and can happen at any age. If asymptomatic it can be set off but activity such as a car accident or even something like running. “I have to say again, I am not an expert and this is all from studies I have been reading up on. I have had one other patient with this before but I want you to go to the Chiari institute in Manhattan to get a firm diagnosis and course of treatment. I am pretty positive this is it, and the issues you had in college were likely tied to the Chiari.”. I was happy to know what was going on but still just in shock I suppose. Thank goodness for the internet as I would immediately get home and start my research, to get more information. The more I read the more I knew he was right, this was it. The symptoms could not be more perfect and scary. It could cause permanent damage if not treated correctly. I was given information about the Chiari institute, their doctors and called to set up appointments. A similar operation to the Mayo clinic but on a much smaller scale as they were an institute focused on one disease. I would be there for about a week. Go through scans, genetic screenings and appointments with the doctors. My final appointment would be with the head doctor of the institute… the most well known doctor in the world of Chiari, Dr Bolognese. I found that not only was this disease extremely rare (although now I believe there is more information out there; it is still rare but not as rare as it was then) but it was really fairly new in the medical world…meaning back when I went through the paralysis etc. the doctors probably did not know anything about it. That still gave them no excuse to write me off and tell me it was all in my head. But as I mentioned before, it literally was in my head! ha!
Luckily my sister in law lived in New York at the time so I had a place to stay, sparing me extra cost and giving me some wonderful company while I was there. The day of the scans was intense. I was going to have an MRI of sorts with contrast, but the amount of radiation was so great I would never be able to have another scan like this again. It gave the doctors a complete 3D model of my scull and neck, etc. It was really cool looking and I got to bring back a copy to Dr. Small. I am pretty sure I still have a copy lying around the house somewhere now. To see your entire bone make up in 3D all the way around is fascinating and unsettling at the same time. It really gives you a sinking feeling of your mortality.
The next day was geneticist day. I walked her through, in great detail, my entire family history. She was fascinated(as many seemed to be) and mentioned several times what a mystery we had here, and we definitely had something in the family. I then completed a series of test including the Beighton scale test. This is a test of 9 flexibility excersizes and if you got a 6+ of the 9, you had something (I won’t spoil what that something is just yet). I got a 9 out of 9 on the test, but didn’t know at the time that it meant anything.
The following day was the Doctor day! I would be meeting with 3 doctors to discuss my results. I don’t know why I met with 3 doctors, maybe they were training the first guy and I am not sure about the second guy but each appointment was more or less the same. The first doctor had not been there long, he was a young, and seemed very inexperienced, a little rude and cocky. He walked me through everything, listened to my history and towards the end of the appointment said he didn’t think I had any indication of Chiari, or anything else. I lost my breath. I went back into the waiting room for my next appointment and called my mom immediately bawling my eyes out. “What am i going to do? I keep getting worse and I cannot handle another doctor telling me this. I thought this was it! I know this is it, it fits perfectly!”. She consoled me and said we would keep going and will get it all figured out. I could hear in her voice the panic, the thoughts going through her head on how on earth we were all going to be able to handle another medical mystery while watching her daughter continue to decline. I was called in for the second appointment and had to let her go. She told me she loved me and no matter what everything would be ok. On to doctor number 2. It was like Goldilocks and the Three Doctors! lol He gave me detailed information of Chiari, walked me through my history, and said I would get all my results with Dr. Bolognese. Other than the second appointment being informational, it didn’t make much sense to me. Then it was time for the final appointment, the Chiari King. I was so nervous after the first appointment, I kept thinking why would I even continue to have these appointments after what the first doctor told me, why bother walking me through the information sessions? The Doctor was very serious, very informative and to the point. He started out right away with saying that all the tests confirm I have Chiari Malformation. He suggested that if my symptoms progress to consider surgery but it was up to me when I would need to have it, regardless it would need to happen. After the Chiari overview he took out a folder from the geneticists appointments. I want to discuss your history. To make a very long story a tiny bit shorter, he explained that my family history combined with skin sample, Chiari, medullary sponge kidney disease, retinal detachment, and the Beighton scale tests prove that I undoubtedly have a connective tissue disease. Specifically Ehlers Danlos Syndrome. Many patients with Chiari have Ehlers Danlos (aka EDS). There are 7 types, and you have the hyper-mobility type. You will want to locate a geneticist, maybe do some testing on your family, get more information on what this means and treat it. This was THE answer of all answers. THE KEY. The thing that tied everything I had ever had in my life. I wasn’t crazy, I wasn’t just randomly getting crazy conditions, I didn’t just have random bad luck, it all made sense. Everything. There was 1 cause, 1 answer, 1 thing that did all of this to me and would continue to do more, but at least now I knew. I had the gift of knowledge, I could digest everything, and face it with confidence, and more importantly know what to expect! All records, tests, diagnosis would be sent to Dr. Small and I would be treated from there. I couldn’t afford to go back up to the Chiari institute for surgery.
By February of 2008 my symptoms were continuing to get worse so I met with Dr. Small. I had been putting it off mostly for fear of the procedure. He had done the surgery I needed to have done a few times before, and I trusted him. It was time to treat this Chiari head on (Pun totally intended). A decompression, C-1 laminectomy. I would be put under, an incision would be made from my neck to the mid-back of my scull. They would remove the base of my scull allowing for more space to be had in the skull and cerebral fluid to flow normally. They would also remove half of the first vertebrae in my neck for the same purpose. More space. After this a dura patch would be placed to protect the back of my head as the base of the skull would not be re attached. It would take roughly 4-5 hours. It was a scary thought and took a lot of preparation and justification to do this surgery. I was terrified. This operation just seemed so much more dangerous than anything I had every gone through. I didn’t know if I was ready, but I no longer had a choice. I would be schedule for April 28, 2008. I would plan for 6 days in the ICU and 6 week recovery. What I wasn’t prepared for was April 1 2008… Nothing could have prepared me for this, could I still go through with the 28th so soon after? How much more could I take?
-Just a Regular Sick Girl