tricky family medical (genetic) matter

[questionandanswer]

Have NC for this. I wondered if anyone has any thoughts on something that caused a family argument this Xmas. It is a medical matter. I will just give the essential info, not to make it too specific and technical, or long. Basically:

I have a DH, who has two adult daughters, my DSDs. We also have a 12yo DS together. Not long ago DH and the DSDs found out from family that DH's sister (from whom he is estranged) has been diagnosed as having a genetic condition. The condition does not affect everyday life in any way but does mean that the sufferer needs to make doctors aware of it if they have a general anaesthetic.The condition can be potentially fatal if you have a general anaesthetic using certain agents, but if the doctors know about it, alternative agents can be used and all is fine.

It is of course possible to just tell doctors about the possibility of the condition at the time of an anaesthetic, and they can use the alternative agent just in case (this happened recently when DS had to have a GA). However, the concern would be if the person is not in a position to give this history, in an accident and unconscious, say, with no family around in time (also DS is only 12 and is autistic and probably unlikely to give the history correctly even if he is conscious). So I certainly want to know if DS has it, and the DSDs want to know if they have it. If they do they would then wear a medic alert tag.

The catch is that. although some degree of genetic testing can be done, the only definitive test is a muscle biopsy, which a fairly invasive and, I believe, quite painful, test. Now, the way the conditiion is inherited, if DH was to test negative, the kids could not have it and so would be spared the testing and any further concern. So the obvious first step is for DH to see a doctor and ask for testing.

The problem is that DH is refusing. He says he will see a doctor to discuss the situation but no way will he have the biopsy. This means that 12yo DS is going to have to have the test (as even if the DSDs test and are negtaive. DS could still have it).

DH became verbally abusive and started shouting at the dining table at Christmas when i suggested he was being selfish. This was in front of the DSDs boyfriends, one of whom we only know a little and one of whom we were meeting for the first time. This was very embarrassing for me. And we are no further forward with finding out the genetic status of any of them.

I dont think IABU (unless you think I should just solve it by getting everyone medic alert tags anyway, but I don't see why DS should have to wear one if he does not have the condition).

@eveningbubble I have said what it is, it is malignant hyperthermia.

Also, accepting one operation at one time does not mean happily having another one at another time. Phobias aren't rational or they wouldn't be a problem. Most people are generally more anxious with all the uncertainty at the moment anyway and as someone with a needle phobia the constant fixation of press/govt/nhs on booster jabs isn't helping much.

@littleowls83 yes I am seeing that point of view a bit better now since starting this thread.

"He has general doctor avoidance and a needle phobia, yes, but manages to deal with it when he has to (has had three Covid jabs, for example,"

I would think that the covid jab & a biopsy aren't quite in the same league as far as a needle phobia is concerned?

Just the thought of a biopsy make me feel sick.

You sound very unsympathetic.

Is he perhaps autistic? Like his son? It's unusual for an adult man to be literally unable to make a medical appointment. Maybe he's worrying much more than you realise.

What a selfish arsehole;I'd do anything for my children up to and including a painful procedure to spare them if possible and especially if not knowing the outcome of said procedure could endanger their lives.

This would be a deal breaker for me.

Having the conversation over Christmas dinner and in the company of those beyond immediate family was not ideal, at all.

He would be massively unreasonable not to potentially spare all 3 of his DC the procedure though. I’d give him a bit of time to think it over. Did he feel nagged/pushed to commit there and then while trying to enjoy his pigs in blankets?!

[quote questionandanswer]@NeverDropYourMooncup it is unpredictable. You can have multiple procedures without problem (DH, DSDs and DS have all had multiple GAs in the past, before we knew about the condition) and then suddenly have an episode.[/quote]
Ah, I see. I'm fortunate in that I'm allergic to Sulphonamides (amongst other things) and was very well trained from age 4 to parrot my allergies practically in my sleep, so they just whack in the Ketamine from the outset.

It’s very easy to sit in front of a keyboard and decide on other people’s behalf that they should be tested for genetic conditions.

I have hypertrophic cardiomyopathy which it transpires is genetic and I will have inherited from one of my parents. But I wasn’t diagnosed until I was 43, so in the meantime I had a child who I potentialy could have passed that condition, or the gene, to.

My family have been told they should have genetic testing but they’ve decided they don’t want to know. My parents are in their 70’s, and them being tested will make 0 difference to my personal health, what’s done is done, and we really don’t need to go over who may or may not have given it to me, that achieves nothing other than guilt.

My sister doesn’t want to be tested because her view is that it’s too easy to dwell on what might go wrong and when (I am looking at transplant in the future, have had cardiac arrests, other surgeries and treatments etc,) so she’s not keen to foresee any of that and would rather live her life.

My DS is 19 now and although he says he will be tested, he hasn’t made the appointment, and has gone from wanting to know to not being sure. He’s an adult, it’s his life. I have pointed out that if he wants to have children in the future then he might consider testing then to be sure, but other than that it’s his decision to make.

If your DH tests positive then your child will have to be tested. If he doesn’t then your child will have to be tested. So in truth there’s a small chance that your child won’t need to be tested. So just get it done.

As for telling him in front of people that you will be making him appointments etc, you are way out of order and he had every right to be fuming about that.

As for the PP who thinks it’s selfish not to be tested for Huntington’s, Huntingtons is a debilitating illness which essentially means deterioration for a large part of your life. A lot of people choose not to know. If I found out I had HD or MND or similar I would take myself off to Switzerland now before getting to the deterioration stage. Not knowing would mean I could live out the rest of my life rather than waiting for the axe to fall…

@Teenylittlefella he isn't autistic but both of us have some traits, I think, and he is severely dyslexic (which also makes it very difficult for him to do things like making appointments). He is generally very unanxious and finds it very hard to understand my anxieties (I have an actual clinical anxiety disorder) but is irrational and avoidant when it comes to health/medical issues. Both his parents died when he was a young adult, I think that may have something to do with it.

If the girls are doctors and have known for two years that they may have this condition, I am surprised they have not chosen to establish for themselves whether they are affected.

@questionandanswer

The tests would be specific for this condition, which is not in any way damgerous outside of the situation of having a GA, and only dangerous in the situation if the doctors don't know about it. (So no chance of finding some devastating information like Huntingtons etc).

Unfortunately the genetic test, which indicative, is not definitive, and if the genetic test shows a possiblity of the condition, the muscle bx has to be done to be sure.

The matter was brought up over the Xmas table by the DSDs, as it was the only time were have all been together and we won't all see each other again for some time (the DSDs live in different countries from each other and from us). I then just said I would be making an appointment in the new year for DH to see a specialist in the condition, and that the testing could be discussed, and he hit the roof. I was completely taken aback.

A few things. Dinner at Christmas is no place to discuss this. Calling your husband selfish is goady and you might be better off quietly talking with him one to one to discuss whats going on. Its all too easy to label someone selfish if they dont acede to your wishes. Primarily from what you have said the risk from this condition happens if a GA is administered, its unlikely this is going to happen without your knowledge.

Maybe work on being better at discussing the issue in a more constructive way.
You will have loads of posts saying leave the bastard/ selfish prick etc. Ignore those- they wont solve your problem but will fit your narrative.

@AlternativePerspective if DH does the tests there is a 50% chance DS will have to test. If DH does not there is 100% chance DS has to test.

I do think YABU. You've said it's an invasive and very painful test, and it's your husband's choice whether he has it or not. I would just get medic alert bracelets for all the kids and resolve the situation that way; there's no way I would put a 12 year old through something a grown man doesn't want to suffer through.

DH became verbally abusive and started shouting at the dining table at Christmas when i suggested he was being selfish. This was in front of the DSDs boyfriends, one of whom we only know a little and one of whom we were meeting for the first time. This was very embarrassing for me. And we are no further forward with finding out the genetic status of any of them.

So you tried to railroad him into having a medical appointment he didn't ask for and doesn't want, and is terrified of, by announcing it in front of an audience, giving him a choice between accepting being forced into this, and losing his shit in front of strangers? Apparently he didn't even lose his shit immediately, it was only when you followed up and piled on the pressure by accusing him of being selfish. I think he showed great restraint to wait that long.

50% chance of DH having it if his sister has it. If he has it, each of the children has 50% chance.

Is there any way people can be carriers?

I’m just wondering if he did get tested if that would mean his children are completely in the clear or if there’s still a risk of it.

@questionandanswer

The tests would be specific for this condition, which is not in any way damgerous outside of the situation of having a GA, and only dangerous in the situation if the doctors don't know about it. (So no chance of finding some devastating information like Huntingtons etc).

Unfortunately the genetic test, which indicative, is not definitive, and if the genetic test shows a possiblity of the condition, the muscle bx has to be done to be sure.

The matter was brought up over the Xmas table by the DSDs, as it was the only time were have all been together and we won't all see each other again for some time (the DSDs live in different countries from each other and from us). I then just said I would be making an appointment in the new year for DH to see a specialist in the condition, and that the testing could be discussed, and he hit the roof. I was completely taken aback.

you said that YOU would be making an appointment for DH? Bloody hell no wonder he hit the roof

@TheYearOfSmallThings they have been hoping (and expecting) DH would test.The elder one does wear a medic alert bracelet. I think now they will just go ahead and test.

@WonderfulYou it is autosomal dominant, you cannot be a carrier

@godmum56 I have already explained, there is no way he would ever make any medical appointment for himself.Too phobic, too dyslexic, too prine to ignore things. I have known this for 20 years. I have always sorted out his health care.

Wearing a bracelet is not really a solution though, could break, be lost, be missed whatever. I have no idea why you are still with a man who would risk his childs life by not doing a test. (Intrigued whether he would offer his kidney if your son needed it?)

If he tested negative then none of the children would need to test

Given your later revelations about making appointments for him, and your complete obliviousness to his feelings, I can just about understand you making a comment about booking him an appointment. But the part of the conversation in which he gets accused of being selfish should not have happened with anyone else being within earshot.

Can you not understand that he might have been unable to admit his fear/s in front of other men, or his daughters? That you had him trapped and cornered, you were trying (in his mind) to make arrangements to harm him, and he wasn't free to explain to you why he was opposed, because you were doing this in public?

@Strictlyfanoftenyears he is not risking his child's life by refusing to have the test. The child is only at risk if he is positive, AND is in a situation where he needs a GA and the doctors are not aware of the condition. Wearing a bracelet is not foolproof sure, as you say, but it is all one can do to mitigate against that scenario. DH's actions have no bearing on that.

The problem is not that he is putting his child's life at risk, it is certainly less serious than that. If he refuses it just means DS has to have the test. If DH had the test there is a 50% DS and his sisters do not have to have the test.

I don’t think he’s selfish. He’s entitled to not want to have an Invasive test if he doesn’t want to.

Can the children not wear a medicalert that alerts to the poss of the condition? You can have them made to say whatever you want. That way they avoid the risk for now until such time that someone gets the test and you know for sure??