Until 2015, I looked perfectly 'normal' to the outside world. I'm sure many people wondered why I was expending so much energy looking for a diagnosis. Even my ex-husband thought there wasn't anything wrong with me, and I was 'faking it'. He even told friends that, and, tragically, a couple believed him and went on to spread that gossip.
But, I knew something was wrong. I suppose I was good at pretending. My son was rather young and observant, and I could see him observing every mis-step. I could see problems growing with my balance, and a good friend was noticing intermittent problems with my speech. I decided to record my speech one evening, and wow! ... I wasn't able to hear in my talking, but my speech was very slow and slurred ... like I had just downed a six-pack without having a single drop.
One trip to California that Spring was notable as I began the trip with no walking aid. I was feeling a bit unstable so I bought a walking stick, and I have needed one ever since.
Early in the year, I made a trip to the Cleveland Clinic. When the neurologist asked me to do tandem walking (heel to toe, like walking on a tightrope), I was shocked that I was unable to do this exercise when it used to be so easy for me.
Because of this failure and other neurological signs, I was diagnosed with Ataxia. The cause was unclear, and Dr. Tavee thought I should see a neurologist specializing in movement disorders. She also thought that there was either a unifying cause (possibly CNS Sjogren's) or that I happened to have two things going on in my brain at the same time (given the synchronous timing, I felt this was very unlikely). Dr. Tavee thought I should start iVIG infusion therapy 'right away' while I met with Dr. Natowicz at the Cleveland Clinic to look for the possibility of a genetic cause for my Ataxia. Dr. Natowicz is a genetic, metabolic, and neurological expert -- a perfect expert for me. After intensive studying, he could not find a genetic trigger.
After seeing Dr. Tavee, I spent three years and five applications/appeals for insurance to cover iVIG. Before my application, Dr. Tavee recommended more tests including another, invasive spinal tap and a conjunctitval biopsy. Just when I was ready to give up, insurance approved the iVIG! And, I was really going 'downhill' when I started. Fortunately, the iVIG helped, and I saw a reversal of some of my symptoms for the first time. My dosage has been reduced so I am no longer improving, but I do believe the iVIG has been helping me to 'hold even'.
iVIG is created by extracting IGG antibodies from donor blood and infusing them to recipient. It is used to treat a variety of illnesses including auto-immune. It does not seem clear as to why it works, but I look at it like it is replacing your immune system and reducing my own body's attack. It is very expensive, and it is understandable (though unfortunate) as to why insurance is very reluctant to approve.
Lesions on my cerebellum have been noted since my first brain MRI. In 2016, I would learn that I also had atrophy of my cerebellum after my good friend (with no medical training) noted the atrophy on my MRI scans. Doctors would confirm this atrophy like 'oh sure'. This was a helpful clue that I would have appreciated sooner.
I have suffered classic Ataxia symptoms including speech, vision, and swallowing difficulties and a severe lack of balance. One by one, I've had to give up on things difficult with poor balance - running, snow skiing, hiking, tennis, bicycling, walking unaided, etc. I must now use a rollator (fancy walker) to walk more than a few feet.
At first, Ataxia seemed to be just another clue, but after a few years, it had clearly become my biggest problem. It is a 'rare' condition with 150,000 people impacted in the U.S. There are many dozens of underlying causes - both genetic (both dominant, usually with family history, and recessive), acquired (stroke, surgery, gluten, nutritional deficiency, drug-induced, MS/auto-immune, etc.), and idiopathic (cause unclear). I've had one doctor ready to declare that my Ataxia has an inflammatory cause, probably auto-immune. I've accepted that this is probably as close as I'll get to a diagnosis.