Until 2015, I looked perfectly 'normal' to most in 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. Now, I can no longer walk with a cane/stick and must use a rollator to get around.
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.
What is Ataxia?
Ataxia refers to a lack of coordination. It is often caused by the cerebellum, a part of the brain which smooths movement, and this type which is most common is called Cerebellar Ataxia (CA). About half of CA's are caused by genetics in either an autosomal dominant pattern (SCA or Spinocerebellar Ataxia), (almost 50 types have been identified thus far) or a recessive pattern (FA or Friederich's Ataxia or many others). With SCA, there is almost always a family history, not always with the recessive ataxias.
A genetic cause/disease can be confirmed through genetic testing, not not all genetic issues have been 'typed'. It is believed that half of ataxias are genetic, but as of early 2021, only 60% (of half of the cases or 30% of all Ataxias) can be confirmed through genetic testing.
The remaining 50% of cerebellar ataxias are 'acquired' from diverse causes such as strokes, brain surgeries, auto-immune illnesses, infections, gluten exposure, drug/alcohol/toxin induced, and nutritional deficiencies. Ataxia can also present as a symptom of another disorder; this symptom is often temporary or transient. And Ataxia is deemed 'idiopathic' when the cause is unclear; most ataxias are idiopathic.
Ataxia is a rare disease, especially when you take each cause in isolation. It impacts both genders and all ages (young children to elderly). All together, there are about 150,000 with Ataxia in the U.S.
For more information, please see the website for the National Ataxia Foundation.
Lesions on my cerebellum have been noted since my first brain MRI in 2011. 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, dancing, 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. Doctors have posed many and conflicting causes, but most agree that my Ataxia is 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.