A family affair, part 2

Thursday 6 July 2017

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.

Insurance companies aren't all evil

Saturday 1 July 2017

Yesterday, whilst continuing to recover from my eye surgery, I received a large deposit into my bank account.  Not quite enough to be life changing but enough to help take five years off the mortgage and that is very welcome indeed.

I had taken out a decreasing term Critical Illness Cover policy about a decade ago, and almost forgotten about it.  At one point I nearly cancelled it, seeing it as a bit of a waste of money, but luckily I didn’t and I made a claim in March, shortly after my Parkinson’s diagnosis.

I wasn’t optimistic about a pay out and it took fully three months for the insurance company to come back with a decision.

As we all know, insurance companies are sticklers for their policy conditions and the wording in the terms and conditions relating to Parkinson’s was:

1. A definite diagnosis of Parkinson’s disease before the age 65 by a consultant neurologist.
2. There must be permanent clinical impairment of motor function with associated tremor, rigidity of movement and postural instability.

The issue was that I didn’t yet have permanent clinical impairment, nor postural instability.

So I was pleasantly surprised when the claims handler who finally called me with the decision explained that their Chief Medical Officer had taken the view that it was just a matter of time before I ticked all the boxes and therefore they would pay out now rather than process another claim in a year or two’s time. And what is more, the claims handler at Insurance Company “Z” was most courteous and empathetic.

Earlier in the year it had been a different story at Insurance Company “A”, the providers of my employer’s private medical insurance.  My travails with them started with the very first neurology visit to Dr T (see my first post).

Straight after my first consultation I phoned them to explain that I needed a series of tests to confirm a possible Parkinson’s diagnosis.  “Ooh.  Parkinson’s is a chronic condition and that isn’t covered,” came the reply.  It was the tone of voice that grated most, a sort of gotcha, as if the woman was paid commission for every claim she could turn down.  She then clarified: “We’ll cover the initial diagnosis but any ongoing treatment isn’t covered…”

I had further trouble with Insurance Company A when it came to a routine cardiology referral to investigate a very slight anomaly in my ECG.  I was grilled about what the tests were and why I needed them.  “I’ve no idea, I’m not a doctor,” I explained and referred them to the consultant’s secretary.

By the time they refused to pay for me to see an orthoptist to measure the defect in my eyes, I had had enough and lodged a formal complaint.

When the complaint handler called me, I didn’t hold back.

“Do you know what’s it like to be told you’re going to be a cripple for the rest of your life?  I could be in a wheelchair in a few years’ time and all your company cares about is not paying.  And you expect me to be a medical professional and explain all my claims in detail.  To think I’ve probably paid over ten thousand pounds in premiums over the years and never made a claim until now.  You’re an absolute disgrace….”  And so on.   To some extent I was laying it on, but I was also genuinely angry, for obvious reasons.

After this, they quietly paid for everything else without further challenge.

So, some insurance companies are basically evil, but some are, dare I say it, nice.

Either way, my insurance for anything related to my Parkinson’s has now run out.  And so, whilst the news yesterday was better than the poke in the eye I had at the start of the week, financially I’m on my own from now on.