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  1. #1
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    Getting tested for genetic diseases

    ...that are currently untreatable.

    This is a question that has been bugging me for some years now, and I'd love to hear if the all knowing FSU community would have something to say about it.

    My mom has myotonic dystrophy (Steinert's disease) and therefore I have 50% chances of having it. The main symptom is the general weakness of the muscles (specially the limbs), it also affects the heart, eyes, digestion, sleep patterns and there are also some psychological issues among other things.
    She has the classical form of the disease and the symptoms have crept on her slowly but surely for the past 30 some years and now she's at a point where she falls constantly (and can't get up by herself), needs a CPAP and can hardly stay awake, amongst other things, and really needs someone to stay around her most of the time. She's not dependent, she can walk with difficulty, but she has a hard time simply getting things done around the house. She's 59 years old.

    Seeing how this has taken over her, body and mind, I wonder what's in store for me. Right now there is neither a cure nor a treatment, all you do is try to take care of the symptoms as they come by.

    I could get tested. If I have it, I know how I will end up, and there will be close to nothing I'll be able to do about it. And I don't know if I'm able to deal with that at the moment.

    What to do: get tested now, deal with it later, or prepare for a possible positive result and then get tested?

    Sorry for the long post...

  2. #2

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    beepbeep -- my sil's sister is a genetic counselor, and apparently a whole bunch of their work is sitting down with folks in positions like yours to help give them information so that they can make a decision about whether to get tested or not. If you have a university medical center nearby, they almost certainly have genetic counselors. I'm not sure what the insurance coverage would be.

    It is a tough situation even when there is something you might be able to do, and harder still when it is something where there isn't (right now) a whole lot of options. I'm so sorry you're even having to think about this. I'd guess that perfectly reasonable people could come to opposite decisions on testing.

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    It's a very personal decision. You may want to look at the options of the results that you may get. Not sure about this disease but sometimes results are ambiguous as in cases of incomplete penetrance. I, too am sorry you have to decide this.

    Another issue you may want to consider, depending where you are in the world and the type of health care system you have is this: if pre-existing conditions matter and affect your coverage, you may want to think about this as well.
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    Just from a coldly practical standpoint, I'd hestitate to get tested because of health insurance purposes. If you did test positive, getting coverage might be difficult in the future.

    If it were me besides that, I would NOT get tested. It would be different if there was a cure, preventitive measures you could take, or a way to stave off the disease, but why would you want to live with that sense of dread everyday? Me personally, since there's nothing you can do either way, why waste your present on worrying about the future? You're probably more mentally mature than me, as it would be hard not to be, but I know *knowing* would really affect how I lived my life, and I don't think it would in a positive way. I could see myself bouncing from extremes of, I'm going to die early so I might as well take X risk or locking myself in my house, crying, and becoming bitter.

    I don't know that knowing would do anything positive for you in the long run.
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  5. #5
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    Health insurance issues aside, in a case such as yours, I would want to know. If you are not affected, it will be a huge relief. If you are, I don't see much difference in knowing now versus worrying day-by-day if every little symptom might indicate the onset of disease.

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    Quote Originally Posted by Matryeshka View Post
    Just from a coldly practical standpoint, I'd hestitate to get tested because of health insurance purposes. If you did test positive, getting coverage might be difficult in the future.
    *Ahem*

    beepbeep lives in Brazil. At 30°6'39'' S, 51º14'44'' W to be precise.

    In Brazil, unlike the United States (that backward country),

    Primary health care remains the responsibility of the federal government, elements of which (such as the operation of hospitals) are overseen by individual states. Public health care is provided to all Brazilian permanent residents and is free at the point of need (being paid for from general taxation).
    http://en.wikipedia.org/wiki/Health_in_Brazil


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    beepbeep, I'm sorry you have to think about this. (((((hugs)))))

    There is no easy answer, and there's a lot to consider. It's a very personal decision.

    I'd want to know, either way. However, I am living in Beijing, and am Australian. I can not get international health insurance at all due to preexisting conditions (one of which is genetic), not even to cover non-existing conditions. I got travel insurance once (my first year here), but it was very limited in coverage. I go home at least once a year to a Medicare system I now adore and get anything that needs to be done, done.

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    I had genetic testing done to me few years ago. In my case sickness isnt as severe and penetrance is not compleate. But anyways I was found to be a carrier. I was not really repared for that and i was devastaded for a long time. In the long run it has helped me and now I accept the fact that I might die tomorrow or live to see my old days. I am not scared anymore of the if's as i was before testing.

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    I am at a very high rate of getting cancer. Unfortunately with my family history and where I live being a real hot spot for it, I do get a blood test yearly to test for it. I am a need to know so I can prepare to fight or make other arrangements depending on the type.

    Not everyone is like me though and only you can make such a personal choice. Regardless I am so sorry about your mom.
    ~I am convinced that life is 10% what happens to me and 90% how I react to it.~ (Charles R. Swindoll)

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    beepbeep, before I say anything else, I am so sorry you and your family are having to deal w/something like this and what it's doing to your Mom. My Dad's been on at home Kidney Dialysis for nearly two and a half years now and he's *really* declined the last year. It's w/out a doubt the worst thing a son or a daughter has to experience and I'm sorry you're going through this w/your Mom.

    We went through Genetic Counselling and Testing when I was three because I'd been developing normally, but then went back to crawling and screaming whenever I had to try and walk. Also Mom remembers going into my room at night during that period, to find me lying on my back w/my legs up against either back or head board of my crib. I guess even at that very young age I was doing whatever I thought would help w/the pain I was having.

    Turns out I have an extremely rare form of Dwarfism, we were told Bone Disease at the time, and a very mild case at that. After finding out what the children w/a "full blown" case of this disorder go through during their extremely short lives, as tough as the medical battles I've gone through, I'll take the mild case of this awful thing.

    Thanks to the genetic testing, we found out that so long as I don't marry a cousin, regardless of how close, this won't be passed along to any children I might have. Which was a huge relief to my parents and also myself as I grew old enough to understand.

    So I'm glad they did go through w/it, so I'd know what was happening w/my body and why. Even if they decided not to and wait until I was older so I'd make the choice, I think I'd chose to go through w/the genetic testing. Because I'd like to know just why what was going on, was going on.

    However, this is a very different situation and a very personal choice. I think you need to see a genetic counsellor, as someone up thread said, so you can talk out all of your options w/someone who does this on a daily basis. I can't even begin to imagine what you're going through watching your Mom suffer w/this disease and know it very well might be lurking in your future.

    I wish you peace w/whatever you decide to choose to do and (((HUGS))).

  11. #11
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    Thanks for your replies!
    And I'm posting long again...
    Quote Originally Posted by Matryeshka View Post
    Just from a coldly practical standpoint, I'd hestitate to get tested because of health insurance purposes. If you did test positive, getting coverage might be difficult in the future.

    If it were me besides that, I would NOT get tested. It would be different if there was a cure, preventitive measures you could take, or a way to stave off the disease, but why would you want to live with that sense of dread everyday? Me personally, since there's nothing you can do either way, why waste your present on worrying about the future? You're probably more mentally mature than me, as it would be hard not to be, but I know *knowing* would really affect how I lived my life, and I don't think it would in a positive way. I could see myself bouncing from extremes of, I'm going to die early so I might as well take X risk or locking myself in my house, crying, and becoming bitter.

    I don't know that knowing would do anything positive for you in the long run.
    You just described how I feel. Knowing myself (not being ready for the result) a positive would send me in a spiral of imagining worst case scenarios every step of the way. It's the twisted way my brain works.
    But not knowing, I question every single thing that I have that could be a symptom, and since this disease has a lot of symptoms that individually are something that a lot of people will experience (depression like feelings, over sleeping, hair loss, etc.) I could go nuts very, very quickly.

    The health insurance thing is something I hadn't thought of.

    [rant] Sure, Brazil has an all inclusive public health system that works wonderfully for big time diseases like HIV, C hep, transplants, tuberculosis... but for everyday stuff, man... Sure it's free for everyone, but it's chaos: if you want a simple appointment you need to get in line at 5am, detail: the health units won't open until 7:30 and pray that you are not unlucky person n° 21 looking for a certain doctor, otherwise, see ya tomorrow. Emergency rooms run at 250% capacity, because the hospital is crowded and there are not enough beds. Although the top hospital here for trauma is fully public and they do see everyone that gets in, it will take you a lot of hours waiting if you're not an urgent case. You will definetively want private insurance here. [/rant]

    I wouldn't be denied coverage if I had an pre-existent condition, but that would allow them to charge me through the roof. I'm currently under my parents health insurance, which is state funded since they are both state office workers (they are divorced and dad lives in another city, mom is retired) and that gets me everything that we can possibly need. But I do wonder when it will come for me to get my own insurance, if they can claim the pre existent condition since I obviously knew that my mom has it (in the case I eventually test positive).


    Quote Originally Posted by AragornElessar View Post
    entire post
    ((((((Aragorn))))))

    Thanks for sharing your story.

    The hardest part has been seeing my once horribly intelligent, articulate and quick witted mom become, hum... a lot less that (it does things to your brain). She's not mentally retarded now by any strech of the imagination, but something has definetively been lost.

    I'm 31 and I don't have any symptoms right now actually, besides the ones that can be related to stress, my muscles and balance are fine. Mom says that she definetively felt slower than average when she was younger, but she was a tennis player so . She found out she had it when I was born because she had a really bad bleeding, that required transfusion, and since my aunt had it (took really many years for her to be diagnosed) they connected the dots.

    I'm going to see a neurologist this week to see what kinds of options there are. Then I'll give some more thought.

  12. #12
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    Just anecdotally:

    I have a friend who, in the last few years, discovered his father died from a very rare, untreatable/uncurable genetic disorder (his father had left the family when my friend was about 5). His older brother had been experiencing some unusual behaviors/symptoms for several years, including mental/personality changes, physical weakness and broken bones without apparent probable cause. Both underwent genetic testing for this disorder; both carry the gene defect. His older brother has gone on to more progressive and more serious symptoms, and he has perhaps only a few years left to live (he's I think 34 or 35 now). Unfortunately, my friend also has the gene defect, but has no way of knowing whether he will simply be a carrier, or if he will progress to this disease as well. He's almost 28 and hasn't exhibited any symptoms yet, and his bone density is normal. But in his case, knowing he even is a carrier of this defect has caused him to choose to get a vasectomy, to prevent further passing on this defect to future generations of his family.

    I agree with the concerns about health insurance, if this genetic testing is carried out; but I would think, just for my own thought process and personal self-concern, I would want to go through with it anyway, because it could effect other decisions made in regards to the future.
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  13. #13
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    Another part of the decision making process is whether you want children yourself. I had a student who's mother had Huntington's Chorea. Giving her a 50% probability for having the gene. I can understand if you don't want to know yourself, but if you plan to have children, it's another story. The student refused to be tested precisely because she wanted children and didn't want to know if a) she die early and b)she might pass this along to her children. She'd rather just take her chances. If it's just you, it's your choice. IMHO, it's beyond irresponsible to risk an unborn child's life based on luck of the draw.
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    That's kinda my thinking on genetic testing too. Regardless of outcome, it allows you to better plan for the future. If you are or are planning to marry, preparing your spouse emotionally and financially is important. If you have kids or plan to have them, that's critical information. Even professionally it can help direct what you do and when. If insurance denial isn't an issue, I don't really see a downside bc ime, such things tend to weigh on people's minds regardless. At least this way you'll know and can plan accordingly.

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    (((((((((((((beepbeep)))))))))))))

    Personally I would never be able to decide whether to get tested or not. Which I guess means I would end up not getting tested - if that makes any sense. I think in my case I would probably be too scared to find out.

    Actually you certainly have made me do some thinking. My father had a ruptured cerebral aneurysm which is often hereditary. I probably could convince my doctor to send me for a scan to check but if they don't find anything it really doesn't mean I am in the clear anyway. Even when it happened to my father, and they were 99.99% sure that is what happened and they sent him for numerous scans/tests they were unable to locate the aneurysm for about 6 weeks and therefore were unable to operate to clip it. During that time they believe he had at least one other bleeding episode resulting in additional permanent brain damage. Although unlike your situation, there is preventative surgery that could be performed if the scan finds an aneurysm. But there is no certainty that an aneurysm will actually rupture and worse yet, there is a high probability of brain damage from the surgery, so the "cure" could end up being worse than the problem.

    Mostly I just don't think about it. I have a doctor's appt in Sept so maybe I will do a bit of research ahead of time and see what the doc has to say.

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