Scenario: Find out if you have debilitating disease, or live in blissful ignorance?

[Xameil]

These are devastating diseases with early onset neurodegeneration that rob people of their independence in what should be the prime of their lives. They are absolutely a big deal.

Again, I do this for a living. If anyone has questions about genetic testing, PM me.

Thanks for the info for what these diseases do...I didn't get a chance to witness them first hand or anything.

You all have your opinions, I have mine. You think I'm selfish, well right back at you.

You think I'm uninformed about genetics, well there you're right, I only have a rudimentary knowledge of it, but what I do know is that no one is 100% sure of what is being passed down unless you go the IVF route.

[TheGoodBits]

[Xameil]

Yeah...I'm bowing out if this one...before I get myself banned

[Dont Taze Me Bro]

I'd probably get the test either before or after having children.  My dad had genetic testing done a while back, due to him getting a blood clot.

 

He just developed one out of the blue, he did not fit any of the known reasons as to why it developed.  He got genetically tested to determine if he had a marker for it.  If he did, then I was going to go in and get tested as there would be a chance it was passed on to me.

 

Turns out he didn't.  Still remains a mystery as to why it happened.

[tshile]

I'm a medical geneticist, and deal with families going through this and similar issues on a daily basis.  This is as deeply personal a decision as it gets, and very reasonable people take different approaches to it.  I think it is critical to meet with a geneticist or genetic counselor to talk through all the pros and cons before making this kind of decision. 

 

I think this post, specifically the bold portion, is key to having a decent conversation on this topic.

 

Because of how deeply personal it is, it's easy to become emotionally invested in what you would do for yourself (or hope someone would do for you).  But that doesn't mean the other options are 'wrong'.

 

Try to remember it's ok to be passionate about what you would do, but it's also ok for others to choose a different route.

[TheGoodBits]

Try to remember it's ok to be passionate about what you would do, but it's also ok for others to choose a different route.

Indeed. My frustration with the exchange with Xameil earlier was less related to his opinion/decision itself, than with his complete disregard for the stated fact pattern in this thread and his use of his own fact pattern in trying to justify his decision. He ended up getting mad because he was arguing about something that nobody else in this thread was even addressing. Hence the facepalm.

[twa]

I'm with skinsfan_1215 and Bang on this one.  Take the test.  It may influence whether I have children or if I already do, how I prepare so as not to be a burden for them later in life.

 

I lean towards examining your family histories when choosing whether to procreate.

[ExoDus84]

I would take it. Yeah, ignorance is bliss. But for me it would be either one of the following two outcomes:

 

1) I find out I won't get it: Takes a tremendous weight off of your shoulders, and allows you to go on with comfort and confidence, without that stress hanging over you.

 

2) I find out I will get it: The initial shock and depression would most likely take a toll. But it would change the way I live my life. I'd live my life more fully. I'd stop making excuses on why I couldn't/can't do something. I'd probably become more active, and notice the subtle beauty of situations more than I might have previously. I'd use my time better, and experience more of the world.

 

Either way, I'd want to know, from a life-planning perspective.

[s0crates]

No idea about the poll, but the following questions occur to me:

1. Should sexually active people get tested for STDs to avoid transmitting them to their partners?

2. Should people having kids get tested for hereditary diseases to avoid transmitting them to the next generation?

If you answer yes to 1 but not 2, what is the relevant difference?

I have no idea how to answer these questions. Every way I try seems treacherous.

[twa]

1 yes if you have had multiple partners

2 No

 

the odds are greater for one

[s0crates]

1 yes if you have had multiple partners

2 No

the odds are greater for one

Intuitively I want to give the same answers, but I'm having trouble with it rationally.

Anyway, the odds of transmission cannot be the relevant difference. Odds of transmitting HIV in a single sexual act are estimated to be below 5%, often much lower. Odds of passing on genetic diseases are basically either 25% or 50% per child. If anything that would seem to imply the opposite answers.

Now these odds can be subject to some mitigation, but I still don't think odds will work as the relevant difference.

[twa]

Intuitively I want to give the same answers, but I'm having trouble with it rationally.

Anyway, the odds of transmission cannot be the relevant difference. Odds of transmitting HIV in a single sexual act are estimated to be below 5%, often much lower. Odds of passing on genetic diseases are basically either 25% or 50% per child. If anything that would seem to imply the opposite answers.

Now these odds can be subject to some mitigation, but I still don't think odds will work as the relevant difference.

 

Who has single sex acts?....what are ya nuns?

 

there are more STD's than HIV

 

On passing genetic diseases you must begin with the odds of you having one, then move to transmission odds

[brandymac27]

I didn't even read the OP before I voted, and I voted that I'd want to know. Regardless of possibly having kids, etc., I'd personally want to know. Maybe knowing early on could help the condition or medication could prolong the negative aspects of the condition.

Regardless, I'd want to know.

[tshile]

 Maybe knowing early on could help the condition or medication could prolong the negative aspects of the condition.

 

 

In this specific case, as it says in the OP, this is not possible. There is no treatment. There is no cure. There is no guessing when it will 'activate'.

 

I understand you would want to know regardless, just clarifying that part for you.

[gbear]

For me the decision on whether or not to have the test comes down to will the answer change how I live or how those whom I care about live.  For example, I take a drug for my MS that has a chance to cause a brain infection with huge health implications or death being the likely outcome of the infections.  The infections only occur in patients who test positive for having been exposed to the JC virus (roughly 50-60% of patients are positive).  There are no known cases of the infection from JC- patients.  When the tests came out patients on the drug I take took the test, and many stopped taking Tysabri (the drug I take) because they were JC+. 

 

For years, I refused the test because my odds were never worse than 1 in 350 of getting the brain infection even if JC+.  Why do any medical procedure which will not impact treatment plan?  My wife and I talked about it and came to the conclusion we will just ignore the risk because knowing changed nothing for us.  However, the pharmaceutical company began to require the test, and 5 years ago, I found out I am JC+.  As I stated before, it changed nothing, and I didn't even want my neurologist to give me the results.  However he was ethically bound to give me all information that may change my decision model.  As it turns out, there is a good reason for me to be tested because I am now tracked adding to the true understanding of the risk involved in continuing treatment despite the JC+ status.

 

For those who think as I did about not wanting any test that will not impact their treatments or ways of life, I add the other positive to having the test.  The more people who take the test, the better the understanding of real risk.  For example in my case the risk to patients to get the infection with the JC+ status in year 2 and 3 is higher than year 1, but levels off rather than getting riskier with continued usage (at least that is what numbers seem to suggest so far).

 

So for me, I would now advocate taking the test in my MS case and in this one if only to improve the base of knowledge about the condition.