The Angry Kid has a 50/50 chance of inheriting an autosomal-dominant degenerative neuromuscular disorder. While not life-threatening in any way, it would affect her quality of life at least somewhat.
When she was conceived there was no way to test for the disease; even the genetic markers were unknown. Now there is a simple blood test. Should we have her tested?
Friday, August 14, 2009
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Yes. The sooner you know, the more you can know to be actively prepared in the case that you learn Angry Kid will develop this at some point down the road. You can be better tied in to therapies, potential drug trials, all sorts of things.
I would say the larger question would be, if she has it, when do you tell her and how? Though, if you choose not to test for it, do you or when do you choose to tell her that she MAY have it and there IS a test?
Interesting question.
If she tests positive, you may impair her ability to get medical or life insurance in the future. That could be financially crippling for her.
Yes.
Yes - I think I would if I were in the same situation.
I would say no. If it is going to show up when the kid is young, then you can deal with it, if not, wait until the child is old enough to make their own decision.
What will knowing the results achieve? If the test is positive, are there any medical, behavioral, nutritional, etc. interventions?
No. Who knows that the life/health insurance implications will be? It's not a protected area and could become difficult/impossible/expensive to get insurance later if you have a positive diagnosis. I'm assuming here that there is no treatment that will delay onset or prevent said disease. You can still watchfully wait and look for potential symptoms without having a genetic test. Especially if it came back positive, then it'd be all you could do anyways.
FWIW I've struggled with this question myself on whether to get myself tested for a particular genetic disorder. I have (most of) the physical markers of a condition, but have those markers tracked by a physician. Without a diagnosis, it's just abnormal symptoms and not a "pre-existing condition". If I had a positive genetic test, then we'd just be tracking the symptoms anyways, so I'd rather not take the risk on finding out if that info can be used against me later.
Yikes-- a problem right out of my medical ethics course...
The question is whether or not the information will be useful to her? If there is treatment or other things that can help mitigate the impact of the disease, then yes.
If not, then knowing the answer doesn't do her or you any good. If there is nothing to do with the information, isn't it better to simply watch for the early symptoms?
The only other reason to test is if the knowledge will let her make plans now that will improve her life if she has the disease.
I'm not sure, but there might be insurance issues either way. I would think that the chance of having it would be in medical records as a part of the health history, which might on it's own be an issue as the company might view that as a risk- so it might be something to look into if potential red tape is considered a factor.
I agree with that if there's no current beneficial measure (medical or preventative) that waiting for her to choose might be wise. If there is something that could be done to make life easier for her, then I would probably test now to have that opportunity- however, I'm not sure that my viewpoint would remain the same if actually placed in that situation and I'm sorry to hear that you were placed in this position.
It depends.... is this something she won't face until she's older and can make the decision herself? If so, wait until she can make her own decision. Some discussion of it before then, when she is old enough to understand, is probably warranted though.
If it's something that might affect her as a child or if there is something you can do about it now (preventive therapies or behaviors, trials, research studies, etc.), these are arguments for testing now.
If it won't affect her life enough to alter her choice of career, I'd say wait and watch. If it were something like a woman I once knew had - being a carrier for something that prevented her from working in a medical laboratory, which is what her college major was - you might want to slant your career counseling. A lot depends on whether it's treatable, and how expensively.
My inclination is to say "no, unless there's some reason to prepare for it, preventative care, or life planning issues that need to be dealt with sooner rather than later."
The insurance implications and identity implications seem too large to risk, unless you're also going to be able to do something about it.
It's something to address when you start talking about having children, though: how it's important to talk to your partner about their genetic background, and understand the issues....
It's very important to get good information on genetics -- I'm not saying you're not, because you clearly know how to read scientific material critically, but my blind spouse talked to a "genetics counselor" before we were married who literally didn't know the difference between recessive and dominant traits, and freaked us out (until I could get over to the medical library and do some research, this being pre-WWW).
I wonder how many of the reasons NOT to tell her are motivated by what's comfortable for the parents? That's a natural process, but it might be worthwhile to try and identify reasons for and against and try to decide whom they help. Never forget that denial is the single strongest human emotion--it can lead us to do many things that we may regret.
As to insurance issues, what does it say about the system we have now that we have to make this sort of decision under the cloud of what our insurance carrier will do. "Best health-care in the world" my a**!
Yes. It seems that the major point for "no" is the concern over getting health care in the future. The Genetic Information Non-Discrimination Act (GINA) of 2008 prohibits exclusion from medical coverage due to heritable disease. You can read more about it here.
If having this information won't lead to any type of preventative measures that would help her, I say no. Let Angry Kid make that decision when she gets older, or if she begins to have any problems.
I'm not thinking insurance-wise, but psychologically. What if she had it? Would you spend all of your time waiting for the shoe to drop and symptoms to begin? Would you be hypervigilant to anything she experienced physically? I say wait - the test isn't going anywhere. I was a pretty serious little kid, and if I knew I was living with something like that I would feel like it was hanging over me all of the time
That being said, if there is something you can being doing now to prevent the onset of it, then I say yes yes yes go do it right now
How very American. Here I sit in Thailand with a very different perspective.
You say "The Angry Kid has a 50/50 chance of inheriting" which means that the Angry Kid has a 50/50 chance of not inheriting. Why go looking. There are lots of other thing she could also be in contact with... do you check for worms and other parasites, she could be infected, did you vaccinate for JE ... I guess not but that is a very dangerous disease to protect against .... there are lots and lots of others.
The non American way is to stop looking and just get on with enjoying life.
But you are in the States and the States seems to have this love affair with supporting the medical industry.
As someone with a degenerative neurological disorder - I would say no - except under one condition. If it is something that early treatment could help slow the progression of, then I would test. Otherwise I would not test - and just look for symptoms that are indicative.
Psycgirl has it right. I have a nasty disease, and I was able to hide it for a number of years from my friends. My family knew, but not really. Once it got out, my friends began to treat me differently. They gave advise, tried to protect me from imaginary demons, and annoyed the Hell out of me. My family adjusted over time, and they are now my biggest supporter of my independence. I AM IN CHARGE.
What a tough decision!
There are probably bloggers out here that have the disorder. Why not ask them what they think?
Julia
We've had occasion to think about the same question, as the romantic interest of a good friend is in the same situation. First of all, if you are asking this question, that means that one of her parents is dealing with this problem too, so you have a lot more on your plate besides the question you asked, wishing you the best.
After thinking about my friend's situation, I came to the conclusion that it was better not to test, not only because of medical coverage implications, but also social effects. For a child, just knowing can be a big burden that alters her entire viewpoint while growing up .... do you think this would be helpful or not? Children with secrets always tell someone, and this knowledge getting out (if positive) could have bad social effects. Thinking about my friend, if she had known about this sooner, she might have backed away from getting to know him at all. (Of course, once it becomes known that someone's parent or grandparent had something, then it is known that that person is at risk anyway.)
Ii recently heard an interview on NPR with the researcher who developed the test for Huntington's Disease. Her mother died of the disease, and she and her sister are at risk. Yet neither of them have been tested. Her reasoning was that if the test is negative, it is not going to change the way she lives her life. And if the test is positive, its knowledge will only ruin her remaining years of health. She said the only thing that would change that would be having kids, which she doesn't have.
Though I would say one other thing that would change the value of knowing is if there becomes an effective prevention or treatment. With the disease in question, the only suggestions, so far, are various nutritional things like antioxidants slightly delaying the onset of symptoms. Anyone who is at risk could just go ahead and do those healthy nutritional things anyway, without needing to be tested first. But once some preventative therapy is developed, go for the test so as to take advantage of treatment as soon as possible.
In the case of a child, unless symptoms are going to hit soon, I'd say let it be an adult decision that is made once the child is grown up. And then, once interested in testing, go to some other country and get the test there under a pseudonym first. If it comes back negative, then repeat in the US.
AP, I am sorry for you and your family to hear this news. While that's great that she's not potentially facing something life-threatening (aside from those life-threatening things all of us face as a consequence of, well, life ...), I would find it really unpleasant to contemplate the need for this type of decision for my child.
If it was me, I might choose to get her tested, just so I would be better able to manage my own fears, and thus, be able to be a better parent- to either let it go, or to get proactive about planning for the eventuality.
But, that's just me ... there's no clear answer to this kind of question, too many variables between you, her and Angry Baker. Best wishes for the Angry family.
Peter: Your logic is flawed. There is a difference between that which is preventable or easily remedied, and that which is not.
I have known more than a couple young people who have died from meningitis, so I had my son vaccinated. If I suspected he or I were exposed to parasites, I would consult my physician.
I have a congenital condition which has left me deaf in one ear and which will render me completely deaf at some point in the future. I have not had my child tested -- although our consultation with a geneticist said that it was possible. But we monitor our son's hearing and pray that the fates are with us.
I applaud your zest for life, but it is a wee bit insulting to minimize and dismiss people's concerns. Especially when it relates to their children.
AP -- I trust you to make the best decision for you, AB & AK. I know from experience that these decisions aren't without angst.
Peter, your response is the best, it has great wisdom and insight.
Thanks for all your comments. I can say with certainty that the only reason I would have her tested is so that I would finally know one way or the other. I would not tell her the results of the test.
For this disease, there is no cure and no mediation or prevention. If she has inherited the gene, she will get it. Testing would only give us information, not options. Options are not really necessary; as I said, it isn't a life-or-death thing, just a quality of life thing. If she has it, she won't be a concert pianist or an athlete. That's about all.
Perhaps you should talk to a genetic counselor. They have a great deal of information and experience.
If you are a hug-accepting person, here is one.
I'm a fan of knowing. It may be difficult to know, but ignorance is no picnic either.
Even for something like Huntington's - which is a death sentence, complete with approximate age, and there's nothing you can do about it - I'd want to know. That information would help me live a better version of my life. (For example, I'm putting away a significant fraction of my income, on a bet that I'll live to retire at 65...if I knew that bet was a loser, I'd make different choices.)
I don't have that one, but I recently got tested for something else. My father has it, so I was at least a carrier. I got tested under a pseudonym so it's not on my insurance records. This was a no-brainer; it's easy to treat, but can kill you if it's missed.
In your case, though, it doesn't seem like there's anything to be done with the information. No extra monitoring, no raiding the 401K...it's just to know. If you can't think of any reason why you'd want that information, it might not be worth the hassle.
I'm neither a concert pianist nor an athlete. Do you think I could have it?
Keep passing the empty windows, AP.
It's gotta be hard to be a parent in this situation.
With no treatment or cure, my advice FWIW (not much), would be to leave it to her as and when she has the wherewithal to make her own decision. She'll not thank you for testing her now, nor for keeping a positive result from her.
A genetic counsellor, as advised above, might be helpful, but they won't make your decision.
I'm a fan of knowing things, too, but this isn't yours to know.
As a doc, the only reason to get a medical test is in order to act on the information. Early treatment, test. Treatment that can change outcomes, test. No treatment, no change of outcome, chances of discrimination and other problems--we won't get into false positives. Don't to it.
I'm too old to take INH. I don't care what my TB test is, as I don't have symptoms, the risks of treatment are greater than the risks of the disease. Get on with life.
Um, this is unrelated to AP's situation in which the issue is to test for a genetic condition. But when williamtheCoroner uses the example of being too old for treatment as an argument against screening for TB, I have to interject as a public health person. This argument neglects the very real possibility of active TB which is contagious to others, meaning you should to be tested and treated. If you're talking about inactive TB that's different- but you wouldn't know unless you were tested and had a followup chest x-ray.
No treatment? No test.
williamtheconqueror, Don't cough near me.
I would have her tested so you can prepare and plan ahead as necessary. The world of special needs is quite the tangle, and having a little warning gives you some time to learn the ropes before you're in the trenches.
Liz says "No treatment? No test." I thought I agreed. However, the longer I consider the question, the more I am in favor of testing at some point down the road.
When this child is old enough to understand the medical issues, and old enough to make major life decisions, then the question will be something like, "Should I pass on my genes to a child?" Also, "Why am I having these symptoms?" may be important when the can be explained by a genetic test.
I agree with Matt M. She probably doesn't need to know now, but should be able to take this into consideration when/if she decides to have children. You specifically mentioned that this was not an option for you, it should be for her.
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