I have written previously about how there are almost certainly genetic factors involved in my Parkinson’s.
Back in April I spat
into a plastic tube and sent my saliva to Indiana University to be genetically
tested as part of a study funded by the Michael J Fox Foundation. The study was
looking for people with one of the two most common genetic mutations known to
be associated with the disease, in order to further develop diagnostics tests
and trial possible treatments. These are
known as the G2019S mutation of the LRRK2 gene and
the N370S mutation of the GBA gene. The
LRRK2 G2019S mutation in particular accounts for about 2% of all Parkinson’s
cases and happens to be common amongst Ashkenazi Jews and North African Berber
Arabs.
Earlier this week, a
very helpful woman from the university phoned me and told me that my tests had
come back negative.
She explained more
about the study and the search for targeted treatments. We discussed that I still almost certainly
have a genetic mutation but a rarer one such as a mutation in one of the genes
SNCA, PARK2, PARK7 or PINK1, or a different mutation of LRRK2 than the one they
tested for. Genetic testing is expensive
so they only test for the specific cases they are researching.
For me, this is an
unfortunate outcome as the majority of the research funding, understandably, is
focussed on the most common cases which have the bigger pool of people to study
and a greater impact if a treatment is found.
I now have two options
to get to the bottom of possible genetic causes. Firstly, I am due to get some NHS blood test
results back in around September when I next see The Professor. Secondly, I could pay something in the region
of £2,000 for some comprehensive genetic testing through a private US or UK lab. I suppose I will wait for the NHS results
first.
Even once I establish
a genetic factor, there is the question of what to do with the
information. Obviously I can tell the
rest of the family about it and they can choose for themselves whether to get
tested, presumably at their own expense as the NHS doesn’t cover genetic
screening for Parkinson’s. Perhaps there
will be some specialist study I can participate in for whatever my DNA turns
out to be carrying.
I sense that this
particular peregrination is going to be a slow one.
In the meantime I talk
to my mother regularly about her journey with Parkinson’s. Like me she initially responded well to her
medication but is now experiencing a gradual return of the hallmark symptoms of
tremor, rigidity and fatigue. Recently
she told me about some balance problems.
I wish I could take care of her in her old age but, with my own issues
to deal with, my brothers are going to have to step in and take up the
responsibility.
It feels very much
like a one way trip for both of us.
