Would you...

[anonymous]

Interested in everyone's thoughts on this topic...

Your parent has a rare genetic disease (dominantly inherited - no carriers) and you had a 50% chance of having the gene. If you have the gene you WILL get the disease eventually.

The disease is a progressive neurological disease, no treatments, no cure. Onset age and severity vary, but always fatal. One family member died at 38, one lived until 70...

You've already had your children by the time you find out - so family planning isn't an issue.

Would you get tested? Why?

Is it better to know so you can do some things now rather than "put them off"? Yes, I know we should all live for the moment. But if your dream is to say, tour Italy, from a financial and time standpoint, living for the moment isn't all that realistic when you have a fulltime job and two little children <img src="i/expressions/face-icon-small-smile.gif" border="0">

Even if you don't find out - that monkey is always there anyway....

No easy answers, just wanted people's perspectives...

 

[BigBee]

Must remember to login - not at my computer today.<br>
sorry....

 

[thelizardqueen]

I would get tested. I'd rather know just for peace of mind on my part. Get some things done that I'd be worried I wouldn't be able to do long term.

 

[EnergyGal]

I would definitely get tested. I hope you are fine.

 

[2005CFmom]

I would get tested. For peace of mind like Liz said. I find it easier to deal with the known than worry about the unknown.

 

[anonymous]

I'm fine. It's actually my husband's family. It's his choice to make and I support whatever he decides... I came here for insight.

BTW, we are loaded up on short and long disability insurance and life insurance...just in case. If he would decide to get tested, he'd never get any coverage. And, generally speaking, I feel it's important to have anyway.

 

[anonymous]

I guess I would. That way I could make arrangements -- money, living will, whatever in case there's the possiblilty that I may need long term care and wouldn't be able to function -- bathe, eat, walk..

If it was something like say an aneurysm -- a ticking timebomb in my brain in which one day I could be perfectly fine and then suddenly I'd blow a vessel and die almost instantly. Then no. I wouldn't want to find out. I've got life insurance to take care of my family, they know that I want to be an organ donor if possible and then cremated. If I can't be an organ donor then I want to be donated to the UND medical school and become part of the anatomy cadaver lab...

Liza

 

[BigBee]

Man, I feel like an idiot.  Me again.  Not signed in
again.  Maybe I need more coffee...I'll try that.

 

[Scarlett81]

I would definately get tested.

For peace of mind.
And I personally don't believe that there is ever 'nothing' you can do for an illness. There is diet, perhaps alternative medicine. Other countries offering treatment, ect.
And, I would also want to plan my life accordingly. Are there things I want to do before my illness will stop me from doing them? Financially am I secure enough? Insurances, wills to set up, caretaking.

 

[JustDucky]

Mary, that one truly is a toughy...I can most certainly identify with that one on a personal note. See, I too have a neurological disease, docs believe it to be a distal muscular dystrophy with an early respiratory failure component. It is very rare, my docs are still working on the genetics of it. If it is indeed this type of dystrophy for sure, it is dominantly inherited as well, which as you pointed out, carries a 50% chance for offspring to get it as it only needs one copy of the gene to express itself. This disease also does not present until adulthood...I started with symptoms when I was 30. I have two kids, both born of course before the diagnosis. If this gene mutation is found in me with 100% certainty, I am not going to test my kids....they know I have severe muscular problems, I do live on a vent as a result of it, we have talked alot about my dystrophy. I won't keep them in the dark if the docs find the mutation. When my kids become young adults, I want them to decide if they want to be tested for the disorder...they will of course have the knowledge about the testing well in advance, before they start their families or careers, so that they can decide if they want to know for themselves or not. I have heard of those with Huntington's ...some opt to get their offspring tested, others not because of various reasons...I want my kids to live like any other kid...can you imagine being 11 and finding out you are carrying a deadly gene that will kill you ultimately once you become older? I bet alot of you are thinking the same about CF, yes it will eventually take your life if you test positive for it. But, having a disease that is hiding, waiting to spring at you anytime during adulthood if you carry just the one required gene....I don't know, seems scarier to me.
On a personal note, if I had known as a child that I was going to get sick and end up on a vent in my 30's, I probably would have made different life choices than the ones I did. Perhaps I might have given up on my life's dreams, knowing that I had a deadly disease lurking in my shadows...perhaps I would have traveled the world who knows what my frame of mind would have been. If there had been other cases of this in my family, I would have opted to get tested, but when I became an adult so that I could understand the ramifications of my life's choices and once I made arrangements, like you are doing, prior to the testing. I wouldn't have had kids, the risk of them getting it would be just too risky. I would not want to know as a kid....
As for your husband, yeah, ,I would personally get tested at this point of life for the reasons others have given.
It's hard when you have kids when you find out about the disease...I think about this all of the time. My kids will have a 50% chance of getting this if it is indeed this rare type of MD for sure, it always causes respiratory failure, many times the person will be vented and the life span varies. Usually succumb to pneumonia. Not to mention that I have CF too....the docs are still looking for the mutations. So, I have alot of genetic concerns to deal with myself as far as my kids go.
I hope your husband comes out negative if he decides to get the testing done. You are both in my thoughts for sure.
Hugs, Jenn <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

If I could be tested anonymously, then, yes, I would be tested.

 

[anonymous]

I don't think my idea of the right choice matters at all, but maybe you'd be interested in the thoughts I had upon reading your question:

The person has the opportunity to learn if he might die of a specific disease. But, knowing that fact will not preclude dying of a different disease or accident. From the sounds of it, knowing that fact will also not tell the person if death from that disease will come early or late in life. If the test is positive, will the person's life/disability insurances be canceled? If the test is positive, will the person change anything about their life? If the test is positive will it create a great cloud of angst that degrades the quality of life for him and his loved ones? If the test is negative, will the person drop any of the insurance or will a great cloud of angst be lifted that is weighing him down? Answer all the questions and chose the path that leads to the best mental-health situation (since you cannot predict the physical health outcome without taking the test).

 

[LouLou]

I would get tested. Gives perspective and allows him to appreciate each day a bit more and might effect decisions he makes.

 

[wanderlost]

nope, I wouldn't. And I'd live everyday assuming that I wouldn't get sick. If I did, then I would deal with that cookie as it crumbled, but I wouldn't want to live each day waiting to get sick.

 

[anonymous]

This is interesting that this question came up. Just last week I had a friend pass away from Huntingtons Chorea. Her dad had it and had died earlier. The only thing I could find that was a good thing in this was that for this family the nightmare had ended. She has two older sisters in their 50s and I foolishly assumed that the symptoms would have already shown up in them. One sister lives out of town and I was telling another friend of mine who is kin to them that at least for them its over and she said that the this daughter had been diagnosed a year and a half ago and also her daughter has the gene.
I really dont know what I would do- think of the relief if you dont have it but the dread if you do. I think I would want to know so that everytime I had a pain or something unusual I would not think Oh no! I think its a very personal choice though- no right or wrong answer.

 

[coltsfan715]

If I personally was at risk for having a dominant genetic disease and I had children. I would get tested. Not for the reasons that most others have mentioned, though they are great reasons and very important. I would mainly want to let my children know that no I don't have this disease/gene so you don't need to worry about it or Yes I do have this gene/disease so you do need to consider it a possibility. That is my reasoning because if you did have the gene, it is possible your kids may have it and they may want to know in the event that they plan to have children.

All the other reasons are good as well - being able to get insurance, living will, do a few things you really want to do before you lose the ability and so on.

I also agree though that for myself, if there was no way to treat it, no way to cure it and really nothing I could do to help myself and I didn't have to worry about my decision affecting others, then I most likely would not get tested to see.

Good Luck in making your decision, whatever it is I am sure it will be right for you.

Lindsey

 

[Allie]

I'd want to to know so I could tell my kids, so they could make choices about having kids. IF you have any goals, you'd want to know so you could achieve them, too.