CAPOS part C – Redux

Hello my readers!

Looking back at the first CAPOS part C, I feel that it is insufficiently done.  If I learned anything about web design, having links out on your first page is plan for less traffic!  There should be more information, zero linking out. It is also a good practice to use the right link, misspelled links lead to nowhere!

Anyways, I am retuning and redoing the CEREBELLAR ATAXIA blog!

ICYMI – I have a rare syndrome that is called CAPOS.  Which has five distinctive parts: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, and SENSORINEURAL HEARING LOSS.

That is quite a lot; a full deck, an overflowing cup of coffee, a challenge that is challenging me, and everyone I love, everyday.

So, what is CEREBELLAR ATAXIA?

Lets look up Cerebellar first; most of us ought to know that it is found in the brain, but where and what is its functions?

The Cerebellar or Cerebellum (same difference) is a area that is found at the back of the brain.  It is fairly small, but does a lot more work.  It is responsible for a few things,

  • Maintenance of balance and posture. With information from the body’s position in space, the cerebellum acts to keep balanced, to stop from falling over
  • Coordination of voluntary movements. by coordinating  the timing and force of different muscle groups to produce fluid limb or body movements
  • Motor learning. by adapting and fine-tuning motor programs to make accurate movements through a trial-and-error process.  Such motor skills as: learning to type without looking at keyboard, learning ASL
  • other cognitive functions, language, etc.

Motor refers to fine and gross motor skills.

So, the cerebellum is basically focused on balance, motor control and motor learning, it is involved in other functions are not yet well understood.

With the cerebellar explained, what is ataxia?  Did you know there are many different types of ataxia?  Just for giggles, here is a short list of different ataxia conditions… all are genetic…

  • Friedreich’s Ataxia: an inherited mutation in the frataxin (FXN) gene leading to low levels of frataxin
  • Spinocerebellar ataxias (SCA), are caused by mutations in different genes, there are maybe 6 to 7 different SCAs
  • Dentatorubral pallidoluysian atrophy (DRPLA), a defect in a gene that causes damage to the cerebellum
  • Gluten ataxia is caused by a sensitivity to the protein gluten
  • Episodic Ataxia is characterised as bouts or attacks of ataxia symptoms
  • Ataxia-telangiectasia
  • and I’m pretty sure there are a few more that I am missing!

Anyways, now what specifically is ataxia, what are the symptoms?  From John Hopkins Medicine website….:

I’ve summarized the list and removed things that I pretty much don’t do… like sewing!

Gait and posture issues

  • difficulty standing, standing up, it is common for me to “plop back down” when standing up after sitting down for a long time.
  • jerky movements, I can twitch and fumble like the best of them!
  • balance coordination, i can and fall over when bending.
  • walking “drunkenly”.  Oh I’ve been approached by a few law enforcement officers over the years, my solution, even before they ask if I’ve been drinking, I step into their personal space and exhale, loud and long, I usually have coffee breath, and they’d let me go, quickly.
  • tripping over a grain of bread on the back of a tiny ant,
  • falling for the sake of gravity, at any time.
  • go up or down stairs – holding on to the railing is essential to survival.
  • escalators are also a challenge, holding on is best.
  • I’ve also fallen out of chairs, and down stairs, and out of busses, and so forth!
  • And now, I’ve developed an aversion, not deep enough yet, to standing or walking close to railings in on upper floors of malls or close to the subway tracks, when there is no subway there.  (That is at least a four foot drop!).

Fine motor incoordination

  • handwriting becomes messier, my signature is different every time,
  • cutting food is not really an issue for me, yet, getting it from the plate to mouth is a struggle,
  • I will add dropping things like forks and cell phones and anything else that I might be holding,
  • For some people, typing is a big issue, but for me it is not.  I can type rather well with two hands on a qwerty laptop, and two thumbs on my BlackBerry.

Speech and swallowing problems are also apparent,

  • slurred speech, inflection is up and down the scale.  On a good day, I can sound like Fred Rogers, Axl Rose and Kermit the Frog, other days I sound more like a mumbling mumbler trying to fumble and jumble words together to grumble a humble conversation.  If you didn’t get that, I mumble!
  • I also can and do swallow something wrong and start coughing or sputtering, this often happens when there is an important discussion going on.

Vision problems arise:

  • Blurry vision, as if my 20/400 vision loss is not enough evidence
  • Problems reading from word to word or following moving objects. I studied this in university, Psychology of Attention, and I am damned if I can remember it is called.
  • I am not sure, but maybe eye strain goes here, I get very tired watching something or someone signing for a long period.

Increased fatigue is another issue:

  • The impaired regulation of coordinated movements may lead to increased fatigue because of the need to expend more effort to perform activities that are no longer fluid or coordinated. Patients with ataxia often report needing to “concentrate on” their movements. I can attest to that.

Cognitive and Mood Problems

  • impaired recall of newly learned information, going to meetings or doctor appointments, I always need to be debriefed!
  • I have no issues making plans, but others do,
  • Keeping things in sequence is not an issue with me!

Personality and mood disorders

  • I can get a little bit of that thing called irritability, and that is not aimed at the kids, but at things I cannot control, but which, a few years or months ago, I could.
  • Some people with cerebellar ataxia have problems with anxiety and depression, Me? I only get anxious at 4 in the morning when I wake up and start complementing that we are broke, need to move and I can’t work and how are we moving to BC and why is it snowing in April, and how are we going to get the Deaf-Blind Awareness Month successful, and why are there two kids in mybed? You know, the usual stuff. But, after I talk to God, and I calm down and go to sleep!

As you can see, I have almost all things listed above. Yet, I’d like to think my fine motor skills is better, as I have been using ASL to communicate for almost 30 years.  It is my preferred communication method. Look at my Sign Language blog for more information on that.

I hope you’ve enjoyed reading this, as much as I’ve had writing it!

Be of good cheer and enjoy life, you only have one!

 

 

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