What happens when two neurologists posit that you don’t have MSA?
Answer: Mental Confusion!
Back in March, I was fortunate to have garnered an evaluation at the one and only provincial genetics clinic. I was hoping to be accepted into the genetic screening for neuro-disorders. My morning started at one other hospital checking in with my movement neurologist. We have a good relationship and I asked for an opinion as to the likelihood of my having MSA. There was some new data in my file so I thought it was time to discuss the probability. The doctor concluded our consult with a continued affirmation as to the probable diagnosis after our review of tests and clinic assessment. I left the hospital feeling confident - albeit, not thrilled. But I knew going in that none of the diagnoses would be equated with the common cold.
I traveled across the city to another hospital which was the home of the genetic assessment and testing clinic. After two fairly intense hours of assessment by a genetic specialist and a neurologist associated with the clinic, there seemed to be significant hesitancy regarding the MSA diagnosis. While this raised some confusion for me, it wasn’t sounding totally absurd. SCA’s (spinal cerebellum ataxia) have very similar symptoms but are genetically based. As well, most SCA 6, which is often characterized by a later-in-live onset, has a longer survival time. Plus, there could be other neuro-disorders that have a genetic link. With three very capable doctors now in the room, I was told that I would be provided with the hoped-for genetic testing. This was kind of a big deal for the clinic team as well because testing is not cheap and there would need to be funding approval for the specific SCA panels as they would be processed out of the country (at the University of Chicago).
I left the meeting and began the two-hour drive home. Over the many miles, my thinking was torn between one person affirming MSA and another being quite insistent that it is not. All I could do is wait six weeks to get the results.
The confusion was really distressing me and I sought a consult with my local neurologist to get her take on the situation.
The supposition that I possibly had SCA6 was also now the direction my neurologist was leaning toward with whom I met. There were three symptomatic issues that appeared to be troubling the experts. One, my blood pressure wasn’t doing the typical drop when clinically examined. Second, I wasn’t falling. And third, I wasn’t progressively getting worse as quickly as one might.
In my weird way to defend these issues, I contended that I was pushing myself to be physically active every day, completing a rigorous strength training program and physical therapy regime focused on balance, coordination, and muscle memory. Along with wobble walking with sticks and trike riding, I was hoping to slow the pace of the disease’s impact. Sure, eventually it would win, but not today. With confusion of diagnoses swirling, I requested a fresh MRI to see how the cerebellum atrophy was progressing. I was in the spinning machine fast as a bunny. And my brain was still churning about what could possibly be happening.
The MRI report indicated “mild to moderate” cerebellum atrophy. This was not reported 12 months previously. I have a feeling that the power of suggestion was at work with the radiologist. Last year there was no mention of any disorder on the request. This year there were specific requests to examine the cerebellum. The report also remarked on mild to moderate ischemia.
I awaited a call from my local neurologist who arranged for the MRI. Five days later, at 4:45 on a Friday afternoon, I got the call. The doctor’s interpretation was perplexing. She stated that she didn’t see a significant change within the cerebellum between the first and second MRI. I asked if that were the case, why was it not reported the previous year? And why have three doctors remarked about it on the first MRI? I also asked if the ischemia may be a contributor to the condition. The explanation for that was that the condition reflected the condition of aging, and nothing more.
I felt the discussion was not helping me to understand my situation and given that we had not heard back from the genetic SCA tests, I concluded the conversation with a, “I guess we have to wait for the genetic results then.”
A few weeks later, the genetic lab results arrived in my inbox. My phone pinged indicating I had new lab results in my computerized health profile. I logged in as fast as I could. The results of the SCA panels were there. One after another, 1,2,3,4,6,… each read negative - no evidence of the loops associated with SCA. By this point, I had convinced myself that maybe the MSA diagnosis might not be right and that SCA6 seemed more likely.
Alas, there was no evidence of SCA repeat patterns. The waters remained muddy. A few weeks past and having not heard from anyone, I called the genetic clinic to ask for a phone consultation reviewing the results, as that was promised at the time of the clinical exam. Two more weeks passed when I received a call and we quickly reviewed the results. Equally important was the question, what next? The genetics team was prepared to ramp up to the next level — a 600-panel genetic assessment! I was very grateful for their willingness to continue the investigation. Within two days I had provided more samples of blood for this inquiry that would take up to four months to process.
Now what? If not A, and if not B, then what? Am I just neurotic? I was really confused (still am).
So, why have I been absent from my own blog site? With the doubts raised regarding the diagnosis of MSA-C, I didn’t feel like I could authentically talk about my experience. But here is the rub… my movement symptoms have definitely worsened over these past 60 days. And it is only because of my physio-therapy reaction training to sudden movement changes while on a balance board that I haven’t actually fallen. But there have been way too many close calls. My eye-sight is once again redefining itself and between the constant bobbling head movement and the vestibular ocular reflex dysfunction, the world is constantly moving. And now, the symptoms begin even in bed before my feet hit the floor. That’s new too.
With the increased intensity of symptoms and their impact on my daily lifestyle, I arranged for one more consultation last week with the movement neurologist. My hope was to ask for two things. The first was to inquire as to whether there is any medication that can help manage the body bobbing and wobbling. It is so exhausting. There isn’t. The second was to provide me with a sense of understanding as to what this is if it is not SCA. The jury is still out on that. But I sense we are heading back to MSA-C. The trouble with MSA-C is the diagnosis can only truly be confirmed once you are dead. Hmmm. Who knows … I may need to rename the blog, “The No-name Weird Maybe Degenerative Brain Thingy”.
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