D day. Diagnosis: Defective DNA.

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..."