Tag Archives: DYT1

Whodunit: The Misadventures Of My Mutant Ninja Protein

Too often, I find myself apologetic over hurdles that come with Dystonia: I’m sorry it’s difficult to understand me…I can’t walk across the park…I need more time to finish this form. Worse are the silent apologies I make to myself. Why do I perpetually raise excuses for my condition as if responsibility for this annoying hoopla falls squarely on my shoulders? I possess greater control over my runaway temper than my speech or my stride. Dystonia arrived as an intruder on my doorstep, robbing me of some of my dearest possessions: clear speech, even gait, smooth handwriting, contraction-free enjoyment of life.

16542915_sThe perpetrators of this medical crime lurk deep inside my brain committing all kinds of chemical mischief. I’ve participated in a bunch of “line-ups” – ironically, I’m the one who’s scrutinized – but while a culprit surfaces in a blood test, the actus reus can’t be captured in a pretty picture and my “head shots” are dead-end streets. We know Mr. DYT1, my uninvited houseguest, orchestrates a mutant ninja protein – Torsin A – who’s ostensibly a key player in a conspiracy of neurological proportion involving a perplexing hoist of my brain with a modus operandi stumping even the most seasoned investigators. To complicate matters, a host of suspect genes orchestrating their own villainous behaviors are implicated in different forms of Dystonia.

On the bright side, I function as my own “neighborhood patrol,” doing my best to combat an ongoing bodily offense. I undertake every effort to keep the crime labs busy, proffering skin and blood samples, funky PET scans, functional MRIs…accompanied by eyewitness accounts of the damage inflicted on my landscape. Meanwhile, I remain a walking crime scene apologizing for acts I can’t explain. Perhaps my amends are best bestowed on the objects of my temper…

Life On Venus

The physical experience of movement disorder can be awkward, uncomfortable, stressful, frustrating, even embarrassing…all of which tend to exacerbate symptoms, a vicious cycle. Sometimes the only way to cope is to find humor in the situation.

This blog is an invitation into my world for a topsy-turvy ride replete with involuntarily contracting muscles caused by a gene named DYT1 that messes with a protein called Torsin A. In my peculiar game of Twister, the spinner’s out of control:  left leg blue–red–yellow (perhaps even purple, off the board!), right arm green–no–red, right leg yellow–blue–green, left arm red–wait–blue. All my limbs are active players, some with feature roles.