Since my SPECT scan in 2019, my varied neurological issues from the physical like maintaining balance and proper coordination, to varied speech issues and poor memory etc. have continued. Having a combination of autism and other neurological issues makes it difficult to adjust to the many variables that can affect my function on a given day. Diagnosis for these neurological issues aside from my autism has been elusive. Not too long ago, my daughter’s neurologist suggested that she (and therefore also I) might have a rare genetic disorder called Episodic Ataxia. Although, this condition mainly accounts for my coordination and balance problems, not the memory and speech issues.
Episodic Ataxia is an autosomal dominant inherited genetic disorder characterized by periods of poor coordination and balance. The frequency of these episodes can vary widely by individual from several times a day to a couple times a year. One can have seizures or muscle weakness accompanying the coordination and balance issues. For me, it is hard to define a precise episode as I have subtle coordination and balance problems daily and I get varying amounts of leg weakness. However, some days the symptoms are more pronounced. For example, recently, I did too much forward bending over motion, repeatedly, and all of a sudden, I could tell I had done too much. At which point, it was difficult to walk or change direction as I felt like I was swaying and my body could not coordinate movement effectively. I also had some leg weakness but it wasn’t enough to keep me from walking once I had sat down for awhile to get the “swaying” to stop.
Some people have their neurological symptoms improved by taking the drug Acetazolamide. I found that it helped my brain process better — which admittedly is difficult to explain. As Episodic Ataxia is rare, Acetazolamide’s main use is not for that diagnosis. Most of the time Acetazolamide is prescribed for altitude sickness. But it can also be prescribed for certain types of glaucoma as well as other neurological conditions.
It is very important when first taking Acetazolamide or when changing dosages, to have certain blood chemistry analytes checked including pH, HCO3– and a Chem panel. If the med throws your blood chemistry out of whack, it has to get medically corrected. This is definitely not the time to skip the lab tests one’s doctor orders.
Adjusting for the Symptoms
There is no other specific treatment widely known for Episodic Ataxia. Depending upon the severity of symptoms, one learns to makes adjustments. I use a cane on days when the coordination, balance and leg weakness aren’t bad. On days when the ataxia symptoms and/or leg weakness are problematic, I use a walker with a seat. The seat comes in handy for if I have to stand longer than my legs easily can and leg weakness sets in so that I have to sit down. In public, it’s hard enough to fit in with the social and sensory issues of autism, much less to adjust to coordination and balance problems. But I find the cane or walker lets people know that I have disabilities, so they tend to be more patient and helpful.