MS, Lupus, Parkinsons, Motor Neurone disease.
6 years ago today a Neurologist came into my room to tell me the head MRI that had been ordered by an Endocrinologist who had noticed I had Nystagmas was abnormal. She gave me a list of conditions it could be but said she didn’t really know and that they’d send me for a second MRI with contrast to check all the vessels etc and that she’d be back the following day to discuss it with me.
I never saw her again and it was my Immunologist who finally diagnosed my ataxia and the genetic abnormality causing it.
Growing up I could never hop on one leg, ride a bike or catch a ball. My ex pointed out when walking up curbs I always lifted my foot double the height of the curb to make sure I didn’t trip up it. When I was 21 I could feel my balance worsening and joked with my flatmate at the time that it was because I was going out clubbing and dancing less than I use to.
As I got older I attempted dance classes with ballroom, latin american and specifically Salsa and found them to be more and more difficult so the ataxia does make sense looking back.
I refused to see Basingstoke neurology again and instead saw a wonderful Neurologist in Oxford who eventually referred me to my current Professor after my amazing Immunologist read a paper on Ataxia-Pancytopaenia and thought it fitted me completely.
So after exome sequencing, the mutation SAM9D-L was found. Unfortunately it’s so rare it can’t be predicted how I will progress but losing my balance sideways is totally boring and irritating.
I see my professor once a year although I can get in touch with him as needed. I’ve joined a load of Ataxia groups on facebook and groups regarding wheelchair holidays and accessibility.
So six years ago my ataxia journey started properly and having a name for the stumbling, losing balance, choking, speech slurring and inability to walk makes it easier to handle but walking normally would be even better as my body had made too good a friends with the floor and walls.
How Rare? 