Here’s the short version: My grandmother died when I was young, and I remember well her decline leading up to her death. She had Huntington’s Disease (back then we called it Huntington’s Chorea). HD is a degenerative disease that affects both motor skills and cognitive ability. When I last saw her she was confined to a wheelchair because the involuntary movements completely disabled her. One of the last things she told me was after she finalizes her record deal she would buy my family a nicer house (she had no such aspirations before the disease struck).
My mother told me then that the chances of inheriting this disease are 50-50. Wow! What a dagger-over-the-head for her to deal with. If you have it, you have a 50% chance of passing it to your children - 0% if you don’t (i.e. the chain is broken) - so at the time I was faced with a 25% dagger.
Skip forward several years and my mother, after having shown signs for a while, is diagnosed with HD too. She was in her early 40s - I in my late teens. Now I’m watching her degenerate (although more slowly and less dramatically - better medicine? childish mis-recollections?) and I’ve been upgraded to 50%.
When she was diagnosed, the Dr. told my mother there’s a genetic marker that had been recently discovered, and a test developed that can answer the question “Do I have it?” for anyone not yet diagnosed. Before the marker, the only way to know was to start showing symptoms - which usually began in ones 40s.
So there I was, approaching my 20s, hating the number 50% (oh, how many times did I flip a coin in plaintive experimentation). I was at a time in my life where some key decisions predicated on knowing - should I marry? should I have kids? should I even invest in retirement savings (death usually follows 15-20 years after onset)?
But with this test, I don’t have to wait! It was a no-brainer - I found out immedately where to go for the test, and signed up for it right away (interesting process that culminated in a simple blood test, but involved months of sporadic psychological councelling, I guess in preparation for the worst-case what if) Good news, I do not have the marker.
This was all 15-16 years ago. This is all coming to a head in my mind now because: - one of my mother’s sisters has been positively diagnosed (she has two sisters and two brothers). - my mother is getting quite bad (we’re making preparations) - my youngest brother (10 years younger) just visited me last weekend - and we briefly talked about whether he would take the test.
My youngest brother is contemplating marriage, considering children, etc. and thus is wrestling with whether he should be tested. Our middle brother is only two years younger than me and absolutely refuses to be tested - just does not want to know. I’m not sure which if any of my aunts/uncles know or do not wish to know.
In my opinion it’s absurd to prefer ignorance. I simply don’t understand, not even empathetically (well, barely), why any of my relatives at risk wouldn’t take the test - it’s free and painless. What is the value of not knowing compared to how you can brace yourself if you knew you had it - or the relief at knowing you don’t?
Before my mother was diagnosed, every time she dropped something she had that look “Is this it?” I KNOW I don’t have it, but every time I drop something, or twitch, I have a real sense of that fear myself (what if the lab mixed up the samples? what if the docs lied?) I can only guess how my brothers/aunts/uncles feel - those of which who don’t yet know.
Long winded OP nearing completion.
I do appreciate your thoughts on my family difficulties - I’m curious, though, as to your opinion on all apsects of long-term predictave tests for genetic disorders. I’ve illustrated how they’ve applied to my family. The obvious questions/debate points stem from “Would you take the test? why/why not?” but don’t stop there.
What about the preamble to the blood test I took, what the docs called “genetic councelling.” What if the docs felt I would commit suicide if I didn’t like the results (the thought had crossed my mind). Does that give them the right to refuse to tell me the results? (what if they DID believe I would kill myself, and thus lied???)
There are issues of genetic engineering, stem-cell research (which holds the promises of cure/amelioration for HD, Alzheimers, Parkinsons, etc.), that whole ball of wax.
Over to you…