Spending tons of money on a diagnostic test when you don't know want to know the answer

In My Humble Opinion
1

…and also don’t think your risk of having the disease is high enough to warrant the expense.

I’m talking about Huntington’s Disease. On the surface, I can see why the doctor might consider this as a possibility because of my symptomology (I have “chorea” of some type, he says). However, Huntington’s is almost always present in a victim’s pedigree. It exhibits autosomal dominance, meaning that you shouldn’t have to go way back to find someone in your lineage that has the condition. No one on either side of my family have Huntington’s, which usually strikes in your 30s. It’s not a disease that hides. Eventually it makes itself known.

There is the possibility that a spontaneous mutation occurred in my parents’ germ lines. The likelihood of me receiving any spontaneous mutation from my parents is high, I’ll grant you, but the likelihood of that mutation being right there on the Huntington gene is extremely low.

I called my insurer and asked if they would cover the genetic test. No, they said. The cost of the test is $2K. I have $2K. But that’s a lot of money to me, especially since I’ll be upset with the results either way. If I come up negative, I’ll be angry that I wasted $2K for something I know I don’t have. If I come up positive…well, I’ll probably take off from work and stare blankly across the river for a few hours. Or days.

But my doctor really wants me to get the test done so we can rule it out. sigh I don’t know what to do. I don’t want to be that “difficult” patient…I’m always afraid of that. But I won’t get peace of mind knowing that I don’t have it, since I don’t think I have it anyway. That $2K could go towards a used car when mine finally goes home to Jesus, which could be any day now. It could be used for a down payment on a house (yay me, I’m finally thinking about home ownership). It could be used to shore up my emergency fund, which right now only covers a three months of expenses. And if I do have the disease and get so debilitated that it’s obvious, $2K could go to the wild traveling-around-the-world adventure that I would feel entitled to. Or maybe to making my life as comfortable as possible before going into a nurse home (which would be years away, probably). I don’t know. I’ve never had thoughts like this before.

Am I being a fool? What would you do if you were me?

Please moderator: fix the title to “don’t want to know the answer”. I messed up!

2

I feel for you monstro. I don’t have 2k for an expensive test like that either.

I think I might tell the doctor, sorry, no can do.

If you did test positive, does the doctor have some course of treatment in mind?

Another thing, sometimes if you pay in full, they will give you a discount. I paid my niece’s hospital bill in one chunk and they gave me 25% off. Saved me about $500.00.

3

Thinking you know beforehand your reaction to medical test results is not a sure thing, I discovered.

And I also found that others reactions to your medical test results is not totally predictable either.

Never underestimate the power of good news to ‘eff’ your life.

4

Personally, I wouldn’t get the test in your situation. Knowing you have it is not going to change the ultimate outcome of the disease since we unfortunately have no treatments to arrest its progression. The main reason it would be helpful to know if you had the disease would be if you were planning to have kids, which you don’t seem to be planning to do. It might also be nice to know to be able to participate in a clinical trial for some experimental treatment, but even then the odds that that would be a magic bullet that would change the ultimate outcome are pretty low. If it is truly Huntington’s disease, it will become evident eventually as it progresses. I’d just tell the doctor that you don’t have enough money to be comfortable spending it on this test and focus on the other possible diagnoses.

5

I think “not wanting to know” is a foolish reason to decline a test. If you really don’t want to know, tell him not to tell you and to treat you for whatever you have after he gets the results back from the lab. Personally, I wouldn’t want to disconnect myself from my medical care like that, but it’s certainly within your rights to do so.

HOWEVER, that’s predicated on the notion that there is something in your treatment which would change based on the results of the test. As far as I know, there’s not a “cure” for Huntingtons, and the symptoms are managed basically as they would be if they were caused by something else. That is, benzos are used for hyperkinesis, antiparkinsonions for hypokinesis, SSRI’s for depression, etc. all prescribed if and when the Huntington’s patient develops each symptom. If that’s the case, I don’t know exactly why having a label - Huntington’s - would make his job or your life easier.

Then again, he may need a definitive, lab-tested diagnosis for billing or hospice placement or something, I don’t know. That’s a valid concern too, if you have insurance.

tl;dr: I’d want to know how the outcome of the test, positive or negative, would change his prescribed course of treatment. If it would change it in some way, I’d get the test. If it wouldn’t change the treatment, I wouldn’t do it.

6

This.

Nothing will change if you find out you have Huntingtons except your doctor will feel comfortable not looking for other explainations. I would sit down with him and explain that you can’t afford 2k for the test and that you’d like him to continue looking for other explainations given the lack of a family history.

Good luck.

7

As you state, Huntington’s is a late-acting autosomal dominant trait. If you had it, at least one of your parents had it. Unless they died early of other causes, you’d know it.

The chance of a spontaneous mutation is vanishingly small. Its possible, but highly unlikely. Whatever symptoms you are having, it is far more likely they are due to something else.

The Huntington’s test is only called for if one of your parents had it - if they were heterozygous than you have a 50% chance of having it. Otherwise, I’ve never heard of being tested. Does your doc have a stake in the testing company or something?

8

Got it for you, sweetie.

9

Both neurologist and psychiatrist want me to get it done. I don’t suspect ulterior motives; I just think they think $2K is worth it for the peace of mind. But my mind is already plenty peaceful. Finding out that I have Huntington’s would definitely change that!

Over the past few weeks, I’ve jumped through a ridiculous number of diagnostic hoops…all of which have cost more than a few bucks… I got my eyes checked for Keyser-Fletcher rings. Got my blood tested for copper serum and strep titer (the last for the second time in three months). I had an EEG done. I even got my overies checked for teratomas…'cause my movement problems could be the result of an auto-immune response triggered by ovarian tumors (note to the squeamish: do not ever do an image search on “ovarian teratomas”. Your mind will never be the same again!)

I haven’t heard a single thing regarding the results of any of these tests, so I’m assuming (and yes, I know I could be wrong) that none of them came up with anything. Which is more of a disappointment/kicking-myself-for-wasting-money thing than it is a cause of relief. So that’s another reason why I don’t want to do the genetic test. If it’s just going to be another disappointment, which it likely will be, I’ll only be angry.

Although I do see the doctor’s position. If they’ve eliminated all the other causes but I leave the “big and scary” rock unturned, then all the searching I’ve done up to this point has been a waste. So why not complete the process so they can check off all the boxes?

I guess I don’t see what ultimate point is, other than having another label to add to the others.

10

What?

Your doctors have recommended a series of expensive tests, not discussed the results with you, and recommended more?

That’s not right.

11

Well, to be fair, the neurologist–who I saw back in mid-January–was the one who ordered all the tests.

He told my psychiatrist, who I saw today, to remind me to get the Huntington’s test since that’s the only one I haven’t done yet.

I don’t see the neurologist again until May…which is after my visit with ANOTHER neurologist, who the first neurologist wants me see since he specializes in movement disorders. That will happen at the end of April.

So perhaps he’s waiting to debrief me of all the findings in May? I don’t know. And I kinda think I’m growing too stoic (or passive, you choose the word) to ask.

12

Couple thoughts:

  1. If you don’t have insurance or insurance won’t cover this, you should tell the doctor. You might be able to get it for far cheaper.

  2. If you do have insurance but still have to pay $2000, you should switch jobs or insurance providers. The plan at my company gives all diagnostic tests for free.

  3. If you can’t switch jobs or insurance providers, use that $2000 to set up life insurance. Another disadvantage if you are diagnosed with something serious (I hear heart attacks fall into this category) you can’t get life insurance or health insurance afterwards.

In summary, there are other options rather than paying $2k for something that you might not need, but you should also consider what else might happen with a positive diagnosis.

13

My insurance is excellent. I think it would be ridiculous to have them pay for every test money can buy…especially if there’s such a slim chance of it coming up positive.

And switching jobs? Right now? In this economy? On the solitary hope that another employer’s insurance is better, so I can get a test done for free that will more than likely come up negative? Thanks for the advice, but that suggestion is a little out there, honey. :slight_smile:

For clarification, this isn’t a simple blood test. I understand why it would be considerably more expensive than the other diagnostic tests out there. So my insurer is not being a giant meano. It’s just being smart (IMHO).

(I was told by another doctor that it would not be wise to talk to my insurer about the possibility of me having Huntington’s, which–if I had it–would be an insurer’s nightmare. I’d already talked to the insurer before she had issued this warning and I have a feeling her fears were based on outdated anecdotes. But it did give me some pause.)

14

After some more thought, I think this is a really good example why medical advice isn’t allowed on the dope. My thoughts are perfectly reasonable and logical, but the risk to your health is too great. Reasonable and logical arguments might talk you out of getting the treatment you need.

15

From the doctor’s perspective, he would like to make a diagnosis as soon as possible. A positive on Huntington’s would allow him to stop testing you.

From your perspective, a diagnosis of Huntington would set you back $2000 and wouldn’t solve your problems.

The best option for you would be to have the doctor do more work in order to save you money. It’s an unfortunate situation for your doctor to be in, but he’s not the one that’s losing most of his life savings.

Don’t worry about being a difficult patient. I find that you can get away with doing “difficult” things if you can articulate a good reason for them. Tell the doctor that $2000 is too much money for you and the test can’t help you anyway. Or, if you’re too afraid he won’t be understanding, you can lie and tell him you don’t have $2000. He’ll be more sympathetic then.

Another toss up is whether further testing would cost you more money, and how much. What if further tests cost more than $2000? You should find out what other possible illnesses fit your symptoms and see how much testing for them cost.

16

Look at a best case scenario. The test may rule out Huntington’s and based on that the doctor will continue looking for what your actual condition is. And that might be something that’s treatable.

17

Wouldn’t the doctor continue to look for other conditions even if she doesn’t take the test?

18

How is your relationship with your doctor? First of all an “no” from an insurance company can be appealed. You’ll have to figure out how to do it and you’ll need his help to do it.

Secondly if you refuse the test, the doctor might just basically “give up” and stop trying in your case or do other options half-heartedly. If he cannot get your insurance to cover the test, then you might want to consider changing doctors.

I understand what it’s like to need surgery and meds and procedures done and not be able to afford it. There’s not much you can do. There comes a time when you have to offset outcome versus quality of life.

19

Oh, I explained to him my reasoning. He knows I’m a biologist, and when he mentioned Huntington’s, I didn’t sit there like a scared puppy who doesn’t know anything. Huntington’s is one of those diseases you learn about as soon as you start a basic genetics course, because it nicely exemplifies autosomal dominance and inheritance. I calmly explained to him that I thought the costs associated with the test greatly outweigh any benefit that I would receive from the results, given the extremely small likelihood that I have the mutation. But–and he’s a great guy who I like, so I don’t want to dump on him–he was having none of that! He waved away my saying that I didn’t have enough disposable income to spend $2K on such a test. I’m guessing this doctor has forgotten just how much money $2K is (either that, or he thinks I make more money than I actually do).

I told him I was going to do all the other things–ovarian ultrasound, eye tests, EEG, blood tests, consult with the other neurologist who’s an hour away, etc.–but that the Huntington’s deal would have to wait. I mean, what if I had come up positive for Wilson’s disease but I had already gone ahead and spent $2K for a Huntington’s test? What if my ultrasound image indeed shows a tumor of some type (and it did show something, I know that. But I don’t think it was teratoma). If he wants me to take the test so bad, IMHO, he should at least call me up and share with me the results of the other tests I’ve done. (Yes, I know I could calm him up. But that usually involves waiting a week for him to get back to me. I like the guy, but the downside to him being so popular is that he’s extremely hard to get a hold of).

He should actually already be doing this since I have recently taken a number of other tests to rule out Wilson’s Disease, PANDAS, epilepsy, and NMDA-receptor encephalopathy (the ovarian tumah thing). He also has a one-year-old MRI of my brain. So the best case scenario is actually where I am now, only with $2K still in my pocket. The whole process–as well as the hell I went through with the last two drugs I was prescribed–has made me amazingly stoic all of a sudden. I don’t care any more what I have. But the doctor has decided that we aren’t looking at a psychogenic condition and that something strange is indeed going on, so he wants to hunt down the answer. I’ve already invested time and energy with this search already, so I feel compelled to continue even though I don’t want to. I do want to be a good patient. I just don’t want to bankrupt myself on a wild-good chase.*

If we were talking about organ failure or me being in intense physical pain that a mere operation could fix, rather than an exploratory exercise with a extremely low probability of showing anything “interesting”, then you might have a point. You’d also have a point if the diagnosis was going to change anything for the better. It won’t. My drug regime will continue on its present course. The doc will prescribe drugs to help with the worsening movements, just as he’s always done, but only now I would know to expect my cognition and personality to progressively deteriorate. There’s no treatment for that. Within 10-20 years, I’ll either be an invalid or dead. My quality of life would be…nill.

So there comes a time when you think, “What will I benefit from knowing the answer to this question?” If it’s only to assuage the doctor so he’ll continue to be my BBF, then maybe I should ask him to pony up the $2K!

I still don’t know what to do. This isn’t the easiest situation I’ve been in before, I’ll say that.

*I use the word loosely, and I apologize for being hyperbolic. $2K won’t bankrupt me. But it’s still a lot of money to me, representing 3.5 months of savings. I’m much too much of a cheapsake to watch that go down the tubes without tearing out my hair first.

20

It’s things like this that make me glad I’m a lab scientist. The Huntington’s test is a tandem repeat (microsatellite) analysis. We do these all the time, and have developed tandem repeat genetic markers for the organisms we work with. If I needed it, and my insurance wouldn’t pay, I’d do the damn test myself. Probably would anyway to double check it.