Ataxia

1. a·tax·i·a

   əˈtaksēə

   noun

   Medicine

   noun: ataxia; noun: ataxy

   1. the loss of full control of bodily movements.

   So I have Ataxia.  Specifically inherited Ataxia which can be referred to as Spinocerebellar Ataxia, Cerebellar Ataxia or SCA (number known or unknown).

   My symptoms started almost five years ago.  It started when I was talking walks, I would get a dizzy feeling, I tended to walk with my head looking down (typical of those with balance issues…..at the time I didn’t think I had any) and it progressed slowly.  I noticed that I could not get up from my desk without being dizzy, I was also dizzy and off balance when I tried to exercise or doing any sort of house work.  Anything that had me moving around quickly.

   My family Dr. had no idea what to tell me, she thought it could be blood pressure related, (my fingers swell up considerably when I am hot or it is hot outside….had to get my rings cut off once already, heat really drains my energy) or she thought it was maybe an allergy or inner ear thing.

   I spent the next three years going to specialists and ruling out one thing after another.  Finally she sent me to an older neurologist (and by old I mean he had medical devices in his office that looked like they walked out of the 1940’s….seriously I wondered if I was in an old mental hospital or museum).

    By that time, I was having some ongoing serious eye issues.  In addition to the dizziness, my eyes were doing strange things randomly.  I was seeing double….to the point I had to close one eye to see while working and driving.  I also had “moving” eyes, which seemed to move upwards on their own when I tried to focus on something.  Or they just plain moved….many times I could not focus.  This seemed to come and go but was worse during periods of stress (stress was a huge part of my life at that point and this didn’t help).

   Back then I just wanted answers. So as the neurologist was looking at my eyes…they started dancing.  He said yes…I see.  Something is not right.  REALLY??!!  I’ve been saying this for several years now.  He could not pin point what was causing this but he said he would send me to an ortho neurologist.  A neurologist that specializes in the eyes.  There are only like 2 of those in my general area.

   I went through my history of symptoms once again with the ortho neurologist and after disclosing to him that my biological mother also has had these symptoms for a few years…he said I am pretty sure I know what this is.  Ataxia.  Inherited Spinocerebellar Ataxia.

   FINALLY! I had a clinical diagnosis (there is not test apart from genetic testing for this, and at this present time there are only around 30 types of SCA whose genetic mutations have been identified. The regularly done genetic blood test can search for and identify 12 types.

   I went home and googled Spinocerebellar Ataxia right away!  This is what I found on Wikipedia.

   “Spinocerebellar ataxia (SCA) or also known as Spinocerebellar atrophy or Spinocerebellar degeneration, is a progressive, degenerative,^[1]genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 people in the United States are diagnosed with Spinocerebellar Ataxia. SCA’s are the largest group of this hereditary, progressive, degenerative and often fatal neurodegenerative disorder. There is no known effective treatment or cure. Spinocerebellar Ataxia can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry the ataxia gene until they have children who begin to show signs of having the disorder.^[2]”

   Really?  This does not sounds good.

   Luckily in my case, the disease seems to be slow progression.  I have had a definite worsening in symptoms the past five years, and there is no guarantee as to what my prognosis long term is.  However given family history it seems that I may never need a wheelchair.  That being said, the disease is different in each case.  For example my bio mom has worse balance issues than I do, and my eyes are worse than hers in some ways.  Our symptoms are a bit different.

   So what do I do now?  Take one day at a time.  Take my time.  Slow down.  Try and stay away from stress (ya right) and try and educate others on this rare disorder.  My fatigue is getting worse, I have never felt such exhaustion from just trying to get through each day.

   As for symptoms here are the most usual ones (of which I have most)

   • impaired coordination in the trunk or arms and legs
   • frequent stumbling
   • unsteady gait
   • uncontrolled or repetitive eye movements
   • trouble eating and performing other fine-motor tasks
   • slurred speech
   • vocal changes in tone, volume, and pitch
   • headaches
   • behavioral or personality changes
   • dizziness
   • Fatigue is a common complaint, likely because the muscles of the body have to work harder to overcome the lack of coordination to perform their daily activities.

   So while that all seems overwhelming…I know that I can continue to have a productive life, no matter what happens.  I strive to be as independent for as long as possible.  Most likely moving towards a walker at some point and giving up my drivers license, but who knows….maybe the symptoms will start progressing slower once I really start doing more self care.  My job is a big part of the stress, usually while on vacation I have very few Ataxia symptoms, my eyes get better and my balance is not too bad.

   Today is a bad day.  My eyes have cooperated enough to finish this post…but my exhaustion is here and my balance is not.

   One day at a time.