The path to a diagnosis is not a straight one.
Some 1300 days ago I checked myself into the Sheldon Chummier Urgent Care Clinic, in Calgary Alberta. I had been out shopping, enjoying a beautiful sunny day, when in the back of a store I felt wobbly and nauseated. My vision blurred and I began to shake along my right side. Thinking that I might be having a stroke, I foolishly got in my car and, yes, drove to the Clinic. I was admitted quickly and was seen by a brilliant ER doctor within minutes.
Thinking that I might be having a stroke, I foolishly got in my car and, yes, drove to the Clinic.
I say brilliant because this man was like a dog with a bone wanting to figure out what was going on. After dismissing the notion of a stroke and 8 hours of other tests, he discussed with me the need for an urgent MRI. Two days later, the neurologist reviewing those scans cleared me of any stroke, and insisted that it was simply a migraine. I would learn two years later that those scans showed initial signs of cerebellum atrophy. I don’t fault the doctor at all. The doctor was looking for something other than signs of a rare neurological disorder. From what I can tell by reading people's posts on FaceBook, this is pretty common place.
Over the next months, my balance worsened. I had developed erectile dysfunction and the start of urgency incontinence. Nausea seemed to sweep over me at any time, including at night, waking me. My family doctor at the time provided many single responses to each of the symptoms with stress being a very likely cause. With the start of COVID my stress naturally amped up like everyone else’s. Something had to change.
I was fortunate to rent an old house in the heart of ranching country. But I couldn’t run away from the symptoms I was experiencing. My new general practitioner was steeped in experience but without further testing, had nothing to base any theories on. COVID had frozen the system closing it to all but the most life threatened.
I felt that melting feeling just before passing out. I don’t know how long I laid on the floor.
In the early hours of a frigid winter night in March, I got out of bed and wobbled to the bathroom toilet. Standing there I felt that melting feeling you get just before passing out. I don’t know how long I lay on the floor. My head and ear hurt and I still felt as if I needed to pee. I gingerly stood back up, felt blood on the side of my head, moved to the toilet, and began to melt again. This time I caught myself and rolled into a position on the floor. I was shaking uncontrollably. I crawled back to my bed and called 911.
The EMT’s found my blood sugar to be dangerously low and my heart fibrillating. And I still could not stop shaking. Transported to Emergency, the attending doctor again checked the basics for stroke. Nothing. Heart attack. No signs. I was monitored for six hours, and released at 6:30 am with the advice that I should most likely sit down to pee.
That night was a pivotal event. It motivated me to start doing my own research and to be more dialogic with my own doctor. He requested a CT scan which coincided with a long overdue appointment with a vestibular ENT specialist and the earnest journey of discovery began.
...to diagnose MSA or any neurological disease one must engage in a process of elimination.
I have learned that to diagnose MSA or any neurological disease one must engage in a process of elimination. I was fortunate to have been referred to Dr. L as he is a vestibular neurologist. He recognized that I had two openings or “windows” directly above the vestibular canal that were most likely causing my lack of balance and awkward coordination. A few months later, I had surgery to repair one of the openings. The surgery went perfectly. However, I couldn’t stop shaking and my balance was greatly impaired. We both concluded that it was post-surgical stress and we would see how I was doing in a week. While the shaking had reduced, the balance and coordination were still well below expected levels and we agreed that further assessment would be needed after 30 days.
The surgery healed beautifully. Unfortunately, balance, coordination, and tremors continued along with blurred vision and escalating urinary urgency. I was dedicated to my walking recovery program as I had regained my 8 kilometers a day over rough country terrain, albeit now with walking sticks. In consultation with Dr. L, he concluded that I should see a colleague of his — a movement neurologist.
During my recovery time, I started digging a little deeper into balance related diseases. I saw my local optometrist regarding my blurring vision, who recognized a slight palsy in one eye. This gave me a new search word with which to work.
My researcher side kicked in and shifted my analytical framework from simple and unique symptoms to complex and interrelated. This I have learned is a significant paradigm shift in approaching medical disorders, and as neuro-degenerative disease experts will tell you, it is necessary when clinically assessing patients. Thus, I gathered all the symptoms I was experiencing, including this new word, palsy, and searched on the internet. SPS, or Super Nuclear Palsy was spit out. After reading a few medical articles it seemed like a plausible point from which to have a discussion with my own doctor.
From this discussion, a new MRI was ordered along with an appointment with a neurologist. Things moved quickly over the summer of 2022. Dr. Z, my local neurologist recognized the atrophy occurring within the cerebellum pictured in the MRI. After clinical tests, she made requests for DNA screening, extensive blood work, and cautiously offered an initial diagnosis of SCA (Spinal Cerebellum Ataxia), maybe SCA6. The DNA results would help clarify a diagnosis. Dr. L’s colleague came through with a movement assessment and concurred with the possible ataxia diagnosis.
October arrived as did the DNA results. This screening did not show the repeated chromosomes typical of SCA. After reviewing all the evidence again, along with the report of the movement neurologist, Dr. Z revised the diagnosis to that of MSA-C.
My exploration continues. The double vision could be attributed to the neurological disorder. Swallow baseline tests are now a part of the record, as is a F-Dopa PET scan and an additional two rounds DNA screening have been completed.
Late in the fall of 2023, I met with my movement neurologist, Dr. K. While my movement symptoms had progressed moderately, Dr. K was clearly perplexed by the fact that I was not becoming worse in all the assessment categories associated with MSA-C. I have been and still am a pretty healthy individual on all the other fronts. Plus, I had been doing physiotherapy training daily for over 9 months, making remarkable progress in my ability to improve my stability and response to imbalance. But MSA typically (and I use that word with both respect and caution) progresses at a good pace. I was not showing a typical symptomatic pattern. Thus, Dr. K offered a diagnosis of Idiopathic Late Onset Cerebellum Ataxia. Or as he suggested, "It's the name we give to stuff that we really don't know what to call it." And he is so right. There is extremely limited research about ILOCA. It is also just as rare as the other neurological diseases that have an ataxia component. Sadly, one MSA study indicated that 55% of those finally diagnosed with MSA were previously diagnosed with ILOCA.
None of us know with 100% confidence that we have MSA until they do a brain autopsy, but then it’s kind of pointless. So, we go forward with the best assessment of clinical probability that we can stitch together. I'm living into ILOCA for the time being. And until we come up with something else, I am an Ataxian.
Journal Prompt
Take a moment to recall and write your own journey toward gaining a clinical diagnosis. From your experience, what is the one piece of advice you might offer someone just beginning the journey?
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