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).

YABU

Firstly, to discuss it on Xmas.

Secondly, to expect your DH to have medical procedure when you only found out ‘not that long ago’.

There are things in our genes that we don’t know we have. These could affect how our bodies react to anaesthesia, vaccinations etc.
You’re in a better position that most because the medical records can say - potentially has MH.

Give him some time. Get him to speak to the doctor and they’ll weigh up the pros and cons with him.

@Hoppinggreen

Why won’t he? If I could have a test instead of my child having one then I would do it with no questions

This.

No way would I put my child through a painful test they could avoid if I did it instead.

He’s selfish and lacking in fatherly instinct.

@TinyLittlePandaSneeze yes he is indeed literally completely (psychologically) incapable of making the appointment. He would never make it if it up to him. (He is like his mother, who died at 58 of breast canceause she refused to act on symptoms and refused any therapy once diagnosed).

[quote questionandanswer]@TinyLittlePandaSneeze yes he is indeed literally completely (psychologically) incapable of making the appointment. He would never make it if it up to him. (He is like his mother, who died at 58 of breast canceause she refused to act on symptoms and refused any therapy once diagnosed).[/quote]
Fair enough then. If he has given you permission to arrange all his medical stuff then go ahead.

I hope it all gets sorted. I'd still get DC tested tbh rather than rely on DH

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.

I agree.

Even though on the face of it anyone who won’t do something for their child is selfish, I think you need to be a bit more sensitive to this massive shock that’s he’s just had.
You’re worried about your DS but your DH will not only be worried about his own health but also feel responsible that he has given it to his child.

Be kind. Be patient. Encourage him to speak to a doctor who knows a lot about this condition.

[quote questionandanswer]@takenforgrantednana his parents are long dead. He has just the one sister, and she has the condition (has been tested).[/quote]
so is it 100% guarrenteed that this would have been passed on? if it was me i would be taking him out of the equation and dealing with the potential outcome for your son, get him tested then you know where you stand, as for your husband stop babying him, let him make his own medical decisions in future and take some responsibility for his actions or lack of them.

@WonderfulYou He has not had any massive shock. He has known about this for over two years. He has just been ignoring it. (When I said "not long ago" I meant not long ago in terms of many years). We have all been waiting since him to do something (not make the appointment himself, we all know he would never do that, but to ask me to do so), hence the discussion when we were all together for the first time in a long time (the girls had clearly been talking with each other about it).

If your DH continues to refuse, could you ask for a note to be put on your son's medical file saying that he may have this condition?

I don’t think a meal with your step daughter’s boyfriend at Christmas is the right time and place to be having that conversation.

Your husband is being a selfish baby.

We had exactly the same situation in our family with MH where it was only discovered when DHs cousin (quite a number of years ago) almost died during an operation under GA. Even after that discovery, DHs dad refused to have the biopsy so DH ended up doing it when our youngest son was about 2 and due to have a hernia operation. He was negative so we know that the condition hasn't been passed on in our branch of the family. However, DHs brother does have the condition. I never understood why DHs dad didn't take the test either.

We are in the UK so the main centre here is in Leeds and from DHs brother I understand that they are now beginning work on DNA testing to identify sufferers - is that something which might be worth investigating?

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

I cannot force him to have the test, and of course if he refuses, after being advised to do so by the specialist, I will get DS tested, and DSDs will get tested. But I am concerned how I will then feel about DH's selfishness. And how the doctor would react to his refusing the test, meaning that DS definitely has to be tested.

How about just getting an alert bracelet that says I have a family history of x then alternatives can be used anyway

[quote questionandanswer]@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)[/quote]
If he's had surgery before, wouldn't he know if he had the condition already?

It sounds like he suffers from health anxiety. It's very debilitating. He needs tour support to get over it, not you taking over for him and then make him sound like a horrible person in front of strangers at a family meeting.

You are not helping matters.

If he's had surgery before, wouldn't he know if he had the condition already? - not necessarily, it is only certain combinations of anaesthetics which can cause the reaction.

@unfortunateevents that is very interesting and helpful, thank you. In DH's family too it was only discisverd when his sister became very ill during a GA. (He only heard about it some years later as he is completely estranged from his sister). I have heard about possible genetic testing which may in time be able to allow people to avoid the biopsy, but from what I understand that is not the case just yet.

While I understand the concept of phobias obviously (have a few myself!), I would draw the line at refusing to accept some discomfort or pain if it means my DS has to go through the same discomfort or pain instead. DH was able to have an elective piles operation years ago because he couldn't stand the piles any more. So he can accept procedures if he really want to.

@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.

This is like my DF when we found out DS1 had cystic fibrosis. My 2 siblings, children at the time, could have been spared the test.

[quote questionandanswer]@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.[/quote]
Not surprised he took offence to being ganged up on and told an appointment he didnt ask for would be made for him over Christmas dinner. Risky and insensitive tactic. Maybe give the medical chat over dinner a miss when he is there.

So you and 4 doctors had a long chat about various medical matters, including family health issues, over Christmas Dinner? And you didn't consider how that would exclude the two family members not doctors or how the person with phobias about medical treatment would react? It's hardly unsurprising your DH couldn't cope with it.

@vivainsomnia I had no idea he was going to react like that and was completely taken aback. It was just a general discussion about various medical issues between a bunch of doctors, and the girls brought up a "by the way" comment about when he wasc going to see the specialist. I knew he was avoiding the issue by ignoring it, but had no idea he was so freaked out about it.

So during Christmas dinner you felt it was appropriate to call your husband selfish in front of guests over a matter that is distressing to him? No wonder he shouted.

My dh has a genetic issue that the kids inherited. Its partly responsible for their SEN. We told bot of his parents when we found out as they could have had the very expensive micro array to see if any other children might be born with it. Fil and mil just shrugged it off and mil even ignored it. Bil said I could got it wrong it was a vitamin deficiency ( I have a biology degree. The geneticist from St George's London hopefully knows more about the references between vitamin and a gene). I didnt argue. I gave up. My kids have the option of IVF pdg when they have kids. The geneticist said I had fulfilled my moral duty.

So in summary protect your child. Leve dh in his happy bubble of ignorance

why can't you say what the condition is, an anonymous forum? A muscle biopsy isn't that big a deal. He doesn't want to know, some people are like that, just get your son tested. There is no big issue here except the drama you are creating.

@littleowls83 DH was not excluded from the discussion, he was very much part of it (there is another, potentially way more serious, genetic condition in his family which the girls have to be tested for, which we very recently, as in last week, found out about, and he was taking part in that discussion just fine, we were all planning how and when they were going to come back to Ireland for the testing, one of the girls then just mentioned bye the bye that his appointment needed to be planned too. Everyone was surprised by his reaction).