What’s the false positive rate for the test?
zagloba, that’s a good question. Let’s say I do get the test done and I do test positive. Well, the stubborn mule in me isn’t going to believe it. So I’ll want to have a “re-do” at another lab. So that’s even more money. And…well, I guess I’m disconnected from my body or something because I don’t want to think about what if it did come up as positive. False or not.
No. Suppose Huntington’s Disease and Nemo Syndrome have the same symptoms. But 10,000 people have Huntington’s Disease and 10 people have Nemo’s Sydrome. A doctor is going to assume you have Huntington’s. The only reason he would assume you have Nemo’s is if he has eliminated the possibility of Huntington’s.
And there are reasons why he wouldn’t treat you for Nemo’s if he thinks it’s Huntington’s. Maybe the treatment has side-effects. Maybe the treatments for Nemo’s worsens Huntington’s. Maybe the treatment for Nemo’s also costs a lot of money.
True, but you don’t know the other option is “Nemo Syndrome.” Maybe the chances between Huntington’s and other conditions are 50-50. The doctor ordered a bunch of other tests along with the one for Huntington’s, so that shows that he’s willing to test for other conditions. Monstro should at least wait until she finds out the results of those tests.
If they don’t reveal anything, then she can tell the doctor that she’s not going to take the Huntington’s test because it’s too expensive, and that the doctor should test for something else. If his answer is no, with your reasoning above, then her options are to either take the test or find another doctor willing to do other tests.
I would at least press the doctor to try other options and see what happens. If he’s going to stop treating her, then a second opinion wouldn’t hurt. She has already gained everything she needs from this doctor, so it’s not like she’d lose anything by going somewhere else. And she can always return to him after taking the Huntington’s test.
I was reading this thread, saw “Nemo syndrome”, and googled it… and yanno, there really is something called NEMO syndrome :p. It’s an autoimmune condition which doesn’t seem like it would cause Huntington’s-like symptoms though :).
That said: Monstro, I know you’ve said your parents don’t have it; are they still alive? (you may have stated that and I missed it). If either is gone, and died at a young enough age that Huntington’s might not yet have manifested, then the test might be worth it. If they’re alive, or passed on at a late enough age, then I’d agree with your thinking that it’s a vanishingly small possibility that this is your issue.
Can you ask the doctor to provide you with cites / percentages showing cases of Huntington’s appearing out of the blue? If he can’t come up with a reasonably persuasive set of data showing examples of this happening, then I think it’s reasonable to refuse the test. Of course, he might be thinking / hoping for you to come up positive, because it’d make an interesting journal article.
If you do go for the test, I think it’s a good idea to appeal the insurance company’s refusal to pay. You can sometimes get these decisions reversed, especially if you have the doctor arguing on your behalf.
I’d be leery of getting any genetic diagnosis on my medical history. Supposedly things have improved since the 80s / 90s with the mandatory continuation of coverage when changing jobs (as long as you’ve had continuous coverage), but if you ever need to get an individual policy, you’re pretty much untouchable. Of course, with your present history even without a Huntington’s dx, you’re a leper anyway. Someone mentioned life insurance, and you’re already untouchable unless you’re with an employer who covers everyone. If you do have life insurance, don’t let it lapse!
A personal anecdote: back in the early 90s when we were thinking of propagating the Zappa/Knig dynasty, a discussion with my gyn suggested that we get tested for cystic fibrosis (a relative on Typo’s side had it, so he had a 1/8 chance of being a carrier). We met with a genetics specialist… and paid cash for the test until it came back negative. Then we ran it through insurance. This was before mandatory continuation of coverage, there were rumors of babies being denied coverage as a result of known genetic issues, and we were terrified that something of the sort would have happened.
This is certainly not an easy question - this is the situation that’s discussed in every medical ethics class’s “Genetics” section - so I don’t think I have anything substantive to offer, except this. Of all the things you are considering and worrying about, please don’t let this:
Be one of them. The medical professionals are there for you, not the other way around. Don’t let yourself forget that.
If it’s a dominant trait, and neither of your parents had it, then you don’t have it, and any doctor worth his salt should know that already. You say he’s a great guy and you and other patients like him, and that may well be true, but that doesn’t imply anything about his competence. Don’t spend $2000 to find out something you already know. Get a second opinion. If nothing else, wait until May when you see that other neurologist.
There’s another possibility here. I won’t spoil it for you–you’ll come up with it eventually.
Here’s my 2 cents–either get the test done or get a new doctor. It doesn’t make sense to me to hire someone to provide advice and then not take their advice.
Rand Rover, are you suggesting that the doctor wants to have the test done because he thinks that the milk man may have had Huntington’s? In the overall population, I think the odds of having to take the milk man into consideration is something like 2 to 10%. The odds of a doctor admitting that he’s testing for a possible milk man is probably closer to zero.
I’ve already been tested for Wilson’s disease four years ago…yet I went along like a good patient and had the tests done again. Just for him.
I know the chances of an EEG showing anything weird for a 20 minute session is quite small…yet I went along like a good patient and had that done as well. For him.
I allowed myself to be tested for strep antibodies to rule out PANDAS for the SECOND TIME in less than a year…just so I could be a good patient. For him.
The ovarian tertatoma hypothesis is interesting and I was pleased when he did the research and found out about it. But reading up on it, I think this is far-fetched as well. At least based on the literature I’ve been able to find through google. But…I got the ultrasound done anyway. So I could be a good patient.
I’m going to the other neurologist he recommended, who works all the way in Charlottesville, just to have him give me a look-over. He will be the fourth neurologist who’s seen me in that many years. I doubt he will find anything that the others have missed. I hope that my symptoms even show up for the visit because they sometimes act like the singing frog. (Maybe I’ll skip on the clonazepam for a couple of days so our time together is not wasted?) But despite my reservations, I’m making the drive up there because–you guessed it! I want to be a good patient!
I know I’m being a good patient, but I feel guilty because I’m putting my insurer through the ringer with all these doctor’s visits. I feel a sting of regret every time I write a $100 check for this or that test. Meanwhile, the silence on the other end is annoying. I’ve been holding up my end of the bargain, but I feel like I’m doing this all on my own. And now I’m being pushed to get that damn Huntington’s test. I’m sure my therapist will give me the work over today about it. And why wouldn’t they all be on the same page? They can afford $2K quite easily. So to them, it’s not a big thing. She’ll try to make me seem crazy for being fiscally conservative and applying my own scientific training to the situation. And because I like and respect her too, I will feel all twisted inside.
Are you saying that, if I decide to finally put my foot down and put my own sense to good use, then that means I’m wasting my doctor’s time? Even though I’ve done everything else he’s recommended me to do? Does being a good patient mean that I must do EVERYTHING, or do I have some say on what is wise and what’s not? He’s one of those rare doctors who flatters me by calling me by my professional title, which I perceive as him recognizing that I’m not a stupid person. So I don’t expect even him to think I’m just going to go along with whatever he says. He’s going to have to sell me on this Huntington’s thing before I go along with it. Right now, it seems like I’m doing all the goddamn work and he’s not doing anything but scratching off boxes.
There are other ways to rule out Huntington’s. He can have me draw up a pedigree of my families’ medical history–something I’ve done before for other specialists. Huntington causes neuron death; surely he could look at an MRI and see some indication of that. How did they diagnose Huntington’s before the advent of genetic tests? Why don’t we go that route? It’s not the search for Huntington’s that bothers me–however much I think it’s a long shot. It’s that I think finding out I don’t have it is NOT worth $2K, and either result will push me over the edge as far as continuing to get any kind of help.
Hell, just the whole question is pushing me over the edge. Maybe it’s because I’m PMSing like a motherfucker, but I just want to throw up my hands and yell “FUCK EVERYTHING AND EVERYONE!”
I wouldn’t be too sure. It’s SOP in OB to treat every Rh- mother as if her fetus is Rh+, no matter what the Rh status of her husband (or the guy she tells us is the father) is. Too many women lied, or simply didn’t know, and so didn’t receive lifesaving medication for Rh incompatibility, so now we don’t even ask who the father is, we just assume the worst and treat accordingly. I wouldn’t be surprised if doctors in other specialties feel similarly, although I agree that your chances of getting them to *admit *it is pretty small.
monstro, breathe. Just breathe. And know that your concern over money is not crazy. In fact, if you ask them for a copy of their version of the Patient’s Bill of Rights (if they’re hospital affiliated, they have one), I’m sure you’ll find financial consideration is listed as a valid concern when choosing tests and/or treatment. Sometimes they forget about that, but at some point a panel of uninvolved, unemotional docs sat down and agreed that money *is *important, and doctors need to take that into account when you indicate it’s an issue for you. You are NOT being a bad patient by being concerned about this, you are, in fact, exercising one of your fundamental medical rights.
ETA: I couldn’t disagree more with Rand Rover about leaving your doctor simply because you don’t want this test, by the way. Your doctor is there to advise you of **all **of your test and treatment options. You hold the responsibility of determining which ones to take. He’s not God, and he’s not your father, he’s a professional with more knowledge and experience than you in this one small area, and you have hired him to share that knowledge with you so that you can decide how to manage your own health.
Interesting. I had an ex-GF whose mother had a long-time well-known affair; in fact she rarely even slept at the house and actually died in her sleep at the partner’s house. I guess in the current vernacular it would likely have been known as an “open marriage”, but I’m not sure it was something completely acknowledged. I guess at some point it became known that the other partner had Huntington’s, and that my GF should be checked for it, which was negative. Boy, that was a very strange period.
Monstro, the logical course of action doesn’t always feel good. Especially in situations where everyone’s interests are different from yours.
Don’t wait for a feeling of confidence and certainty to come over you before you make a decision. You generally get that feeling if other people agree with you. In this case it’s possible that you are the only one looking out for your own interests and you’ll have to make a decision without feeling good about it.
In fact, I think you’re conflicted because logically you know you’re correct, but emotionally you don’t have the support you want because two people who you respect disagree with you.
Don’t worry. Uncertainty about a decision doesn’t make it a bad one.
I really don’t think that your therapist will say this.
A doctor isn’t an expert in logic and reasoning. He just knows more medical facts than you do. You are just as qualified in judging the logic behind his decisions as he is. You might even be better at it than him.
Think this through, come up with a conclusion, and if he can’t convince you otherwise, then stick to your conclusion.
Thanks for those encouraging words, Lakai.
Just as I thought, my therapist thinks I absolutely need to get the test done. Even after I tearfully laid out my argument.
I was especially weepy because I had just gotten some bad news at the dentist. All of my back teeth are mobile (WTF!), and one is fractured (which is why I went to see him…because of the temperature sensitivity). The dentist suspects that I’m clenching my teeth at night, or maybe when I’m awake and I’m just not aware of it. I will have to get a root canal and/or a crown, plus wear a mouth guard at night. Plus deep cleaning and major periodontal work. In other words, more $$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$$!
So then I go into my therapy session, and my doctor is pushing me to get that damn test. And all I can think is, “I’m never going to get to where I’m supposed to be in life. No hopes. No dreams. Just old, broken possessions and questions left unanswered. This is my life and it’s exactly what I deserve.”
She saw that I was depressed and struck up a deal. I can wait till May, after I’ve gone back to my neurologist and reviewed the results of all the other tests/evaluations I’ve had done. If he thinks I should still get tested for Huntington’s, I’ll do it. Meanwhile, I won’t have to pay my full co-pay with my therapist (who I see every week). She’s giving me an 80% reduction! That will lessen the burden of all the dental work I have to get done along with the giant blow of the HD test. Not by a whole lot tangibly, but by an amount that registers emotionally.
I felt a lot better about things when I left. Not exactly pleased with life, mind you, but I’m getting back to my regular stoic self.
THIS is evidence of my theory that there is no such thing as PMS - our hormones keep us insanely passive the rest of the time.
You are not being a good patient; you are being a Good Girl.
You are not only denying yourself adequate medical care if you refuse to use your own judgement and education when you make decisions, you are making it harder for the rest of us when we try to.
Does that help?
You should not be getting additional tests until you have reviewed the results of the tests that have been performed.
If there is no treatment for the disease, why should you get the test? (you’re not planning to conceive, are you?)
If there are alternative treatments that might alleviate you symptons, are they potentially harmful?
You, and only you, must make a risk assessment and a risk-benefit determination.
No, you didn’t really. There’s still an extra word in there.
Monstro, I don’t know what you should ultimately do, but holding out until they get all the other tests results back seems very reasonable. It doesn’t sound like a disease that’s going to kill you if you wait a few weeks, and I know I’d be very angry if I let myself be pressured into doing this test when another would soon reveal the problem.
Have you considered taking part in a clinical trial? Some might perform testing as part of the screening.
If you never considered a clinical trial and have some questions, I might be able to help you find the information you need.
Being screened for a trial imposes no obligation on you.
The trial advice is good. But it may be a long shot to find one in the timetable you have available. Still, it never hurts to call around to the universities/hospitals in your area and see what might be available.
I am a white-collar type in my mid 20s, and I haven’t had $2000 in the bank since my scholarships were refunded into my bank account back in my college days. That is a SHITLOAD of money to me. There’s nothing wrong with declining a medical procedure because of cost.
I like your plan of action monstro. Especially since you have given yourself a timeline, and a sequence to re evaluate your current decision. Remember, to hesitate and not decide is also a decision.
Just an anecdote. I know a woman who was an inpatient in a psych hospital for a very long time, and everyone thought her unusual movements were due to the long term effects of anti-psychotic medication. One doctor referred her to a neurologist who suggested they test for Huntington’s and it came back positive. (The referring doctor called it “humbling” that the obvious had been missed for so long.) The patient’s brother (and POA, the woman was single and childless) was given the option of getting tested for HC as well. He chose to be tested and have the results kept for his children’s medical records. He did not want to know for himself.