2 March 2016. D day. I suppose this must be
a significant moment for many patients with ataxia. When one receive his/her
diagnosis. At least this was what I’ve been reading about in forums, support
group chat boards and blogs. It helps explain everything and brings some form
of ‘closure’ to its sufferers.
Yup, so I received my ‘peripheral blood’
test result on 2 March, 2016. Initially I suspected I had Huntington’s Disease because the symptoms described on Wiki sounded so familiar.
It was mainly the walk, or according to
Wiki, the "unsteady gait". For me, it was getting harder and harder not to walk
like a drunk. There was no way I could attribute the style of my walk to
alcohol. As much as I'd have preferred to say I'm always losing balance & trying not to fall because I had too much to drink, I can't. Erm, I worked in an educational institution. As a teacher. Uh huh. And some of the acrobatics I’ve had to perform in drama class (yes, I teach
Drama!) include getting up from my seated position on the ground, pulling down
the projector screen, gliding on the floor after powdering students’ smelly
feet.. oh, and the list goes on.
Since the students were not getting me at
my 100% and I hate to short-change them, I knew I had to do something. I would probably
need something more ‘official’ to grant me a graceful exit.
Additionally, my inquisitiveness got the better of me. I had to find out what was wrong with me. So, in the
end, with only a fair amount of urging from a couple of highly concerned
friends (whom I shared with), I decided to pay a visit to the ‘best’
neurologist in Singapore.
That brought me to this D-day when I was
due to receive my results.
Results:
PCR
analysis showed that the two alleles of the (CAG)n repeats in the Ataxia 1 gene
were 30 and 57 repeats.
Interpretation:
The
patient is heterozygous for one expanded and one normal allele at the ATXN1
locus. This is consistent with clinical diagnosis of spinocerebellar ataxia
type 1. Her children, if any, are at 50% risk of inheriting this condition.
Genetic counselling is recommended.
I can still remember the doctor trying to
explain the above to me but I couldn’t really hear him over this louder voice
in my head,
"Defective DNA... defective DNA... defective..."
"Defective DNA... defective DNA... defective..."
