Episodic Ataxia

Familial Episodic Vertigo and Ataxia Type 2 (EA2) is a hereditary neurological condition that effects my fine motor skills.  It’s more ataxia (loss of balance) than vertigo.  The room does not spin for me as people typically think of when they think of vertigo.  It is hereditary and runs in my family.  My grandma, mom, niece, and I all have it.  Never having received a formal diagnosis, my grandma and mom passed away without ever understanding why certain daily activities presented such struggles.  I was diagnosed by my VA Neurologist Dr. Leigh when I was  32.

EA2 is caused by my CACNA1A gene being mutated.  Most people “freak out” when they first witness me having an attack because I look pretty weird.  In order to feel better, basically I just have to lay down and rest for about an hour; if I’m able to fall asleep during that time, my recovery is much faster. When trying to explain what’s going on to my family and friends, I’ve come to realize the scientific explanation is much too complicated.  So I came up with an analogy: To relate what happens in my body, I want you to think of how a garden hose works. The hose is the calcium channel in my body and the water is carrying the signals from my brain to the nerves. If the hose has holes in it, all the water doesn’t get to the nozzle. The same things happens to me – My calcium channel (hose) has holes in it so when I get an attack, the signals (water) aren’t getting from my brain to my cells. The end result?  My body doesn’t know what to do…hence, people “freak out” 😉

When an attack occurs, I am usually “put out of commission” for at least an hour depending on the severity.  I lose all my fine motor skills and have a hard time talking and walking.  I know what I want to say, buy my brain is unable to communicate it to my mouth so it comes out as stuttering and slurred words.  My brain is also unable to tell my muscles what to do so I end up stumbling my way around.  I probably would do a better job walking if I was drunk.  :)

Please don’t hesitate to contact me if you have any questions about EA2 or anything else on my website.  I am not shy about my condition and I do not have a problem talking about it since I think it helps people understand me a little better.

With a little effort, the impossible becomes possible