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).

Sounds like he's shitting himself and isn't ready to deal with it yet.

Maybe he felt put out that this was the Christmas dinner conversation where there were a couple of people he hasn't met/didn't know well.

Yes he sounds selfish but I would revisit with him at a better time - I certainly wouldn't want to discuss medical matters with relative strangers over Xmas lunch. Who even brought up the conversation at such an inappropriate moment?

@TheCanyon I can understand not wanting to be tested for Huntington's. Distant friends of mine were going through a tough time, mum in care for Huntington's, youngest sibling terminal to teenage Cancer.

Huntings is a degenerative condition with no cure and a shortened life expectancy. It would be difficult for anyone to absorb that information. Especially if that person felt well and able at the time.

Regarding OPs post though... Doesn't really made sense for DH not to test especially given the additional stress it would put on DS to get the test.

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

How would you feel if your DH announced he was making you a medical appointment? He is an adult and it sounds like you are trying to take over and treat him like a child.

@ThinWomansBrain

Christmas meal seems a very odd time to have gone for an in depth discussion about it, but sounds as if he is being unreasonable in not having the test. You don't say what the condition is, the extent to which you have researched it (as in how it is transmitted, probabilities of partner/children having it) - maybe a conversation with his GP to find out more would be useful next step. The more arguments you have before he has done that, the less likely he is to approach it with an open mind.

I'd assume from the information given that it's MH, in which case, broadly speaking, the probability of a child inheriting it from an affected parent is 50%.

he hit the roof. I was completely taken aback.

He is estranged from his family, now he may have inherited a condition from them (which you are quite light-hearted about in terms of how it affects him, but full of concern to protect your DS from the same condition and testing), and I still don't think Christmas dinner was the time to discuss it.

If it is so important then another time can be found to talk about it.

@Merryoldgoat I’m aware Huntington’s is completely different thank you. I’ll explain further. Not everyone is a dr and when stressed fully comprehends or understands everything. I know people getting test for something specific and others getting tested more generally who were so worried about things like Huntington’s showing up (which was not what they were testing for) that they didn’t collect the results. My point was fear isn’t rational and sometimes people need to say and do a lot of thinking and talking to gwt to the answer.

Is he perhaps keeping a needle phobia or similar hidden from you?

Wait for this to calm down and then make the necessary appointment. If DH refuses then you have a responsibility to take DS to be assessed. The doctors can decide if a muscle biopsy is necessary or other measures.

"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."

Wouldn't you hit the roof if someone took your medical concerns into their own hands and decided for you what was going to happen?!

I do appreciate people's input. In hindsight it was not the right time to have a discussion, but in my defence I did not forsee that it was going to entail any sort of discussion or be in any way controversial. We were discussing some medical tests (different condition) that the DSDs need to have, and I was saying how I was going to book appointments for them in our home country in the new year (they are studying away in other countries). I just mentioned the related fact that I would also make an appointemt for DH to speak to the doctor in the new year, and we would keep them up to speed with what was happening.

I am an anaesthetist and know a lot about this condition. The muscle biopsy really isn’t that painful and is crucial with the genetic tests for the diagnosis to be made.

Is there anyone else he would talk to about this? His own GP for example?

There is a génetic condition in our family that we were not aware of when we had kids.
I think you are vastly underestimating the impact of this. It is difficult to accept you may have a genetic condition, and you may have passed that on to your kids. Especially if there is no réal treatment except for the symptoms.

I don't know why I'm so invested in this thread but it seems to me that all the posters saying he's a dick etc...if the shoe was on the other foot and your husband was trying to take your medical matters into his own hands there would be an outcry of 'your body your choice' and LTB and 'is he always so controlling?' - why is this any different?

@ImprobablePuffin he is never going to make any kind of medical appoitment for himself. I am a doctor and I always sort out his health issues for him (to the extent that I can, he mostly refuses testing, won't have his cholesterol done etc). Apart from DH (and DS obviously) everyone else around the Xmas table was a doctor. We dscussed a lot of medical matters at the table including our own medical issues and other more general matters.

@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).

so on that count, if your husband was the one it came thr, then his parents would be the ones to have the same genetics so would it be possible that they would agree to have the test? if you explained how selfish he has been over this and the potential implications if not addressed im sure any grand parent would do what they can

@countbackfromten yes it is MH. He won't speak to the GP himself, I am going to have to do that, but he said (before the Xmas debacle, a few weeks back) he will agree to a specialist referral (am in Ireland, it has to be to Cork University). I am just going to have to take it one step at a time.

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, and has had surgery in his time, when necessary)

@takenforgrantednana his parents are long dead. He has just the one sister, and she has the condition (has been tested).

@questionandanswer sounds really tricky. Hopefully with the referral to the specialist unit they will be able to reassure him about the testing process. One step at a time sounds very sensible!

@PodcastFunFair it is malignant hyperthermia

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 would be annoyed by this too to be honest. Why are you making the appointment for DH? Is he unable to make it himself?

Don't know how he could expect anybody to stay with him if he's going to act like a useless, spineless, selfish wimp?

Thanks for the input, and I am trying to see it from his point of view. He is an intelligent man but his knowldege of medical matters is very poor and he is very frightened of doctors. (Strange, he has a wife and two daughters who are all doctors!)

If it's a matter of the doctor just using different drugs for the anaesthesia, why don't the three children just wear a medic alert bracelet anyway. That way they are protected whether they have the condition or not.

@Flowers500

Don't know how he could expect anybody to stay with him if he's going to act like a useless, spineless, selfish wimp?

So you would be ok with someone else deciding what procedures you will have done and not give you any bodily autonomy?