If you knew you had a 50% chance of carrying a hereditary life-threatening disease, would you get the test? Wait until you were thinking of having children? Prefer not to know?

I might sound crazy but I prefer not to know.

I'd want to know.

What if you also consider that if you come out positive you may have a terrible time getting insurance, life insurance, certain other opportunities, etc. for the rest of your life?

Like for example, what kind of disease are we talking about?

If I don't know then I wouldn't have to mention it and there will be no prob on getting the insurance coverage, unless they test me. Plus no stress. The only problem I have would be at the time of having kids because it might affect them. Then I get worried...

Yeah, if they have genetic testing then they can test a fetus though, right? Depends on what you would do if you found out the fetus did carry the gene though.

With the advances of medicine, maybe something can be done to treat this disease from the very beginning.

I'm sure I would worry a lot. And it would upset me at times, but I would still want to know for my children's sake. Insurance is ANOTHER problem.

Please let me know if there are any other angles of this question anyone can think of. Angles I might not have thought of.
Thanks,

Depends on the disease and how long it would take to kill me.

If it were something that wouldn't affect me for a long time, I would probably wait until I had children to be tested. If it were something that might immediately endanger my life, I'd want to know right now.

i have had genetic testing, as I think its a responsible thing to do when since my family has a history of certain conditions. I would say that even if it ISNT life-threatening conditions, it is an important consideration when beginning family planning.

I would not want to know....

What I dont know about cant worry me.....

Kez

Definitely would... information is power.

I would want to know, I would want to catch it in its early stages

This makes me think of the book Marker by Robin Cook.. (he always likes to write about the medical issues!) One of the main characters in that book had genetic testing and she was positive for the marker.. Its just kind of creepy what they can do with the information too.. Like insurance factors (although I think its currently illegal or something to charge people based on these genetic tests), or what other problems might occur from tests like these (such as [way off on a limb here] forced sterilization for the carriers??)

Not sure I would get tested.. might just be too scary, but on the flip side, if you know you are a carrier for a certain disease or something, then you will know to check for it more often..

Having just discovered that there is a possible genetic link to colon cancer in my family, I absolutely would want to be tested to see if I carry the gene. Not only do I now need to ensure that I am tested, but also that my children are also tested.

The purpose is not always to know that you are going to die from something, but to know that you can be treated PRIOR to being told you are terminal.

If my children carry this gene that predisposes them to colon cancer then I want them to have the test so that they can ensure colonoscopies are carried out as regularly as required and colon polyps removed before they turn malignant.

Absolutely, knowledge is power.

hmmmm. i don't know.

In my case, if I have it, there is nothing any doctor can do to prevent development of the disease or even to treat it when it develops.

In my situation, would you get the test? The one thing I could do is get scanned for AVMs in the lungs and brain which are a result of this disorder.

There are forms of treatment for AVM's themselves, once they are diagnosed.
Are we by any chance talking about HHT? If we are, then I would want to be tested, but that is just the kind of person I am. However, I would suggest anyone that has a possible genetic link to HHT should get genetic counseling.

Before I left the UK I actually worked in Genetics. This is an extremely in depth subject. Most patients who could potentially have an affected gene are normally counselled for months before they even undertake the test.

Me personally? Yes, I would be tested. If you know that you may have a disease and then say to yourself "what I don't know can't hurt" then you are kidding yourself. Every niggle, every ache, every stomach upset, every headache etc etc will have you thinking "this is it".

Huntingdons is a nasty disease. There is alot of talk amongst potential patients about whether or not they wish to get tested. Alex, you may find the following link interesting.

http://www.ninds.nih.gov/disorders/huntington/huntington.htm

But rest assured, those who choose NOT get tested live in fear that they WILL develop it. If you know, then you can prepare. If you don't, you are simply in denial and will spend every year up to the age of 40 scared. Is it worth it? What if you are clear? You will then have spent those years worrying for nothing IMO.




If the genetic test is available they can take a Chorionic Villus sampling at 11-13 weeks. This can be used to test the fetus for abnormalities.

Yes it is HHT and my dad suffers from it and probably my brother does too.

In that case I would take what Mags has said above as excellent advice. I would also want to know so that I could get AVM's in certain areas treated so they don't bleed. I am not an expert, by any means, but there are a certain amount of precautions you could take.

I am sure you are very frightened, but you will have seen how your Dad has coped with the problem for years, so you will have some idea of the kind of life you will have and how you would need to manage it, if indeed you have it. But, like Mags says, if you are tested and the test comes back negative for HHT, it would mean that you need never worry about it again. Have you spoken to your Dad about your concerns? Perhaps he could give you some guidance on whether or not to be tested. There may have been instances where he is glad that he knew, even where knowing what the problem is has saved his life.

Not an easy situation, or decision, for you. But I truly hope that whichever one you make it is the right one for you.

Personally I would. Even if it is a disease I can't do much about I would want to know for family planning. If my kids may suffer through what I would have to go through, then I would seriously consider just adopting. Between my fiance and myself 3 of our parents are adopted, so I definitly want us to get tested for common diseases when we start thinking about a family (ie HH, cyctic fibrosis etc)

When you say "carrying" do you mean "being a carrier of"? Because that's how I read it. In which case I wouldn't get tested unless I was going to have children. Like being a carrier of hemophilia or Tay-Sachs disease, where the carriers never develop it but can pass it on to their children.

Based on your later comments, though, it seems like you mean "there is a 50% chance you will develop a condition" which is an entirely different question.

Yeah, that there is a 50% of having the condition at all. You can't just carry HHT because it's dominant. But you can have HHT without knowing it. Some people bleed all the time from their nose, fingers, lips, mouth and hands (like my dad) but some people just bleed inside their lungs or brain once and die...

Yes

Why? My parents first child was severely disabled. They went through genetic testing afterwards to make sure that his disabilities were not related to their genetic compatability. Luckily, it wasn't the case, but they just did not have great luck having children. I probably would not get genetic testing -in advance- of a problem, but if there was some sort of problem detected with the first child, I would seriously consider it.

Morbid curiosity would compel me to...IF I had the money...ya know?

Rey suggested that I get tested next time we're in Brazil, so that should solve the problem. I think I'd like to know.

Why not buy whole life insurance now while you're still young (it'll also be a LOT cheaper), then get tested?

I'd want to know. There are so many children who need good homes, if I had a good chance of passing something bad onto my child, I'd gladly adopt.

Absolutely. Yes.