Monday 4 February 2019
It had been over a
year since I had spoken to The
Professor, and once again I today met with one of his team at my six
monthly appointment, rather than the man himself.
Rachel was a new face
to me but, as far as I could work out, another long-sanding member of his seemingly
large research group. Though initially slightly hesitant at the pleasantries of
introducing herself and shaking hands, she was earnest in her questioning and
note taking.
We talked about my progress
over the last six months: largely stable but with a deterioration over recent weeks.
Her clinical tests reinforced my view that, after 18 months on the same medication,
it was time for an upgrade to my regimen. (Indeed, I am having quite some difficulty
typing this text…).
But before writing me
a new prescription there were the all-important genetic test results to discuss.
For over a year since
I gave a blood sample to have my genome
sequenced, I had been looking forward to some answers. An explanation as to
why four generations of my family have been afflicted by this incurable disease.
A definitive genetic marker that my daughter and my siblings can be tested for
to enable them, if they so wish, to make life and lifestyle choices if it turns
out they are at risk.
Rachel cut quickly to
the chase.
“Your 100,000 genomes
results are all negative.”
I no doubt had a
surprised expression which prompted her to explain in more detail.
“We tested your DNA against
all known alleles that are associated with an increased risk of Parkinson’s and
you don’t match any of them. But given your family history – with someone
affected in every generation – it’s very likely there is a genetic factor. We’re
now going to move onto a research phase to try and identify whether you are
carrying a mutation not yet described. It could take some time.”
I was her last appointment
of the day and we chatted for a long time, nearly an hour: about my family
history, the contribution of my mother and uncle had made by also giving blood
samples to the research programme, and my own experience with Parkinson’s. Evidently
I am doing well. Over four years since symptoms first became clear, I’m still
functioning pretty successfully and still on a low dosage of a single drug. There
is a lot of headroom in the future to boost my medication.
Towards the end of our
time, The Professor popped his head around the door for a few minutes to
discuss my medication. It was good to chat to him after so long.
We agreed to keep my
dopamine agonist the same (given all the cardiac issues I experienced in 2017)
and introduce a small amount of levodopa.
He sounded enthused at the possibility of discovering a hitherto unidentified genetic variant
linked to Parkinson’s. Perhaps some kudos for him and his team.
And I must admit, despite
the initial disappointment of not having an answer to the genetic mystery, I
too had a brief frisson of excitement at the thought of being at the forefront
of medical science.
Unfortunately, I may now
be waiting another couple of years for answers – if indeed the research team is
able to find any answers.
In the meantime, the
levodopa will give me a boost. But it is a boost that will be temporary as the slow
death of my precious dopaminergic neurons inexorably continues.
