Inherited diseases - Would you want to know if you had one?

Great Debates
#1

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…

#2

:smiley:
I can’t tell you how sincerely happy I am for you that you don’t have to go through what other members of your family did. I’m sure your joy in it is only matched by their own.

I have cousins who inherited this marker from their mother (who is not a blood relative of mine). Two sisters died of the disease before fifty, a third died in a car accident in her twenties so it’s impossible to know whether she had the marker, the fourth is, if you’ll pardon the expression, scared shitless. She’s the baby of the family, now in her late-thirties (the age when her sisters became sick) and the test would tell her one way or the other. If the answer was yes, she has the marker, she feels that whatever quality time she has left would be ruined by the sword of Damocles hanging over her; obviously the “good” diagnosis would fill her with incredible relief not just for herself but for her children, but it’s currently not worth the risk of the depression the bad verdict would bring. I think, in her situation (which thank God I am not- as I said, the gene travelled through a non-shared kin group), I would probably not want the test either for the same reason.

Generally, I would be willing to take any test that showed me if I carried the marker for something I could prevent or do something to mitigate (for example, if I had the marker for cancer, I’d quit smoking now, or if I had the marker for Alzheimers I’d start doing anything that seems to delay its onset [one of which, ironically, is smoking :eek: ). I would not want to know that “no matter what you’re going to do, you won’t see 50” as it would just be too depressing a factor to live the rest of the years productively.

I totally understand why some people would want to know, however, and I’m glad that you had the guts to take the test and a thousand times gladder you got the result you did.

#3

I think I’d probably want to know. That way, you can be a part of any clinical trials that may start. Also, I think I’d probably tend to waste less time if I knew my productive years were much less than the average American girl.

#4

I do want to know. A large number of my relatives on my father’s side have suffered from heart disease. I don’t know if I’ve inherited that. Not knowing, I have to assume I have and take steps now to preserve my cardiovascular health. If I knew for sure if I had inherited that illness, I’d know just how much danger I was in and how much I should be doing to prevent it.

Obviously, it’d different for a disease which can’t be prevented if you have the marker, such as runs in your family. (glad to hear that you didn’t inhereit it.) But I’d think that even if you can’t do anything about the disease, merely knowing if it will be coming your way will help you plan for the future.

#5

I’d absolutely want to know. If I were to spend my entire life working and saving, only to develop an incurable fatal disease in my forties, I would feel as though I wasted my life. If I did have the disease, I would start living faster and better, splurging more, because hey, might as well burn out young. Also, if I brought kids into the world and they wound up getting the disease, I would feel incredibly guilty. Maybe I shouldn’t, as I didn’t purposely “infect” them or anything, but I still would. If I knew I had the marker in advance, I would not have children, thus ending the bad genetic line. Basically, knowing I had something would cause a total upheaval in my life, and I don’t think that’s a bad thing. It would be far more “depressing” to work a job I hate because “it will be better in the future” only to find out–ha ha–there is no future. That’s depressing.

#6

No, they would not have the right to withold your results. They can try all they want to talk you out of it, and they might even be able to justify saying “I’m not going to order the test, you’ll have to find another doctor to do it,” but once the test has been done, the results are yours and you have to right to know what they are.

I work in a genetics lab where we deal with these issues all the time. We test for a lot of genetic conditions like this that may or may not be treatable, and, in fact, may or may not develop. Some of these mutations only cause actual disease in a minority of people that have them. For one of our tests (hereditary hemochromatosis), if we get in a sample for a patient under 18 years old, we absolutely will not run it until our genetic counselor calls and speaks directly to the doctor that ordered the test. About 90% of the time, she convinces the doctor that running the test would be a bad idea, because of the possibility of future discrimination by insurance companies, and because even if they have the disease, there’s really no chance of symptoms showing up until the patient is in his 30s or 40s - usually later.

So it’s not an easy decisions. Me personally, I’d want to know, one way or the other. But there are a lot of good arguments to be made for the other side.

#7

I’d want to know. The anxiety of not knowing would eat me up. It’s like you said, everytime I dropped something or forgot where I parked I’d worry “is this HD/Alzheimers/whatever.” Even getting bad news is better for me than not knowing. At least then I can deal with it.

And, as others have said, if I knew I’d never see age 50, I’d sure stop socking money into my 401k!

#8

Hi, we have a similar delemer in my family with bowl cancer. Here in Australia they are doing research for the gene that runs in families, ours being one of them.

My Mum had the test and luckily for me (and her!) she is without the gene. Sadly, her sister does have the gene though. The thing is, my cousins DONT want to be tested. They fear that it will effect their insurance coverage. If for example they test positive for the gene, it becomes preexisting for insurance purposes.

I think this is the main reason…as well as their attitude that what will be will be. They get tested regularly though which is a good thing. But they arent being tested for the gene.

#9

This is a factor I hadn’t thought of (Smeghead mentioned it too). My brother who refuses to undergo the test does so because he does not wish to know. Would your cousins want to know if the insurance co. could be kept out of the loop?

And how fair is that, for insurance companies to deny coverage in such a case. The capitalist in me says it’s fair because why should an insurance co. knowingly shoulder such an expense (expressed in cold hard insurance-speak). OTOH, it appears unfairly one-sided that the insurance co. holds all the cards. Under the heading of privacy couldn’t one’s right to know be protected?

One pragmatic solution is simply to take out a policy then go for the test. Is there anything the insurance co. could loophole out of then?

#10

My father has a hereditary form of arthritis. In my late teens I began suffering from back pain and my doctor offered to test me for the genetic marker for Dad’s arthritis, and I jumped at the chance to have the test. My thinking was that I’d prefer to know ahead of time so I could begin to take steps that would minimise and delay it’s onset. Perhaps if it was something that I couldn’t do anything about I might have felt differently about it.

As it turned out, I do not have the genetic marker for Dad’s form of arthritis, and my back pain was completely unrelated. My mother would now desperately like my brother to get tested for it but he refuses out of a strange mixture of apathy and fear.

#11

I think I’ve posted before about my learning I have polycystic kidney disease. Had an IVP for other issues and it was discovered. Doctor said “You should know about it, it’s inherited”, despite my constantly noting that I am adopted on all “Family History” forms. In a space of 15 minutes I was told not only that I have a disease I supposedly knew about, but she also did the standard “1 in 6 die of aneurysms, life expectancy is shortened, blahblah”. It was a horrible experience.

If I could’ve had genetic testing earlier than my surprise diagnosis, I probably would not have wanted it. It would change how I live my life. I believe I would have become overly conscious of my manner of living. LilMiss has asked about being tested for it, and if she wants it - no problem.

I look at her dad’s family and see the medical problems she has already inherited and worry about other problems that she may end up with. However, knowing upfront what she could be looking at rather than a blind test (such as it would’ve been for me) is different.

#12

I remember a couple years ago, seeing a TV show (Discovery Channel or the like) chronicling a woman who was going through the testing for Huntington’s - her mother was disabled with the condition, she herself had 2 teenage daughters, and IIRC one of her sisters had tested positive. It was heart-wrenching to watch, especially when they were filmed getting the final test results (negative, in her case, so she was fine).

I definitely understand the ambiguity of having the testing done.

If it were something like Huntington’s, I think I’d want to know. Both because of the long-term planning aspect (why put stuff off “until later” when there won’t be much of a “later”), and because of the impact on children. It would allow one to go ahead and reproduce w/o worry, or perhaps pursue assisted reproduction techniques (if the parent is positive, and if they can test embryos for this particular disorder and then not implant the ones affected). I would think it was irresponsible to reproduce in this situation without knowing what one might be saddling the kids with.

Other conditions - e.g. family trend of early heart disease, bowel cancer, etc. - I’d DEFINITELY want to be tested. With a lot of those conditions, there are things you can do to mitigate or avoid the issue entirely. Like heart-healthy lifestyles. Early and frequent colonoscopy. Early mammograms and even prophylactic mastectomy. Maintaining healthy weight to reduce the impact on arthritis. Starting medication early before something progresses to the point of being problematic.

HOWEVER - as an earlier poster mentioned regarding insurance: I’d probably want to be tested “outside the system” - pay for the test in cash and not have it go through any insurer - just to avoid the risk of insurance blacklisting. We did just that, in fact, when Papa Zappa got tested as a potential cystic fibrosis carrier prior to starting a family. He had a 1/8 chance of being a carrier; we didn’t want that on any permanent records. (turns out he’s not, so we wound up submitting the cost to insurance and getting reimbursed).

#13

Well, that’s the million dollar question, isn’t it? Last I heard (and I haven’t been following the issue with much regularity), no case of insurance discrimination due specifically to genetic makeup had yet been reported in the US, but it’s a huge concern because there is no legislation stating whether or not it would be legal to do so. I seem to recall some efforts to get laws passed, but I haven’t heard what happened with them.

#14

With my cousins, I think they would get tested if insurance wasnt an issue. Here in Australia you renew the insurance annually and have to confess to what is pre existing. With bowel cancer, its pre existing once you know…so its better to not know.

In many ways knowing for sure that you posess the gene (ie a ticking time bomb) doesnt give you a huge advantage in surviving the cancer. My cousins get colonoscopies every year and probably act as if they did have the gene. Maybe the fact that my cousins dont have kids influence their decision. Maybe they just are`nt ready and know they can find out any time!

On a similar note, if someone could read your future…would you want to know how your life will end & when? A surgeon who I respect alot once told me that although patients say they want to know the truth…no one really wants to know that they are going to die. I always wondered about that.

As for myself, I would probably place myself in the apathy & fear group with a touch of denial.

#15

As someone whose own family has been devastated by Muscular Dystrophy ( granted, I am adopted) If I found out ahead of time that I had some such horrid condition loooming over me, I would have never had kids and I would definately take the nobler way out than the long suffering, lonnnnng suffering death.
Nature’s Call, I have to say I read your thread wincing because of what you were going to tell us that you had it. I am so very releived for you and I mean that most sincerely.