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).

I'm glad to hear you were negative ancientgran.

@ancientgran I doreally understand your last post. The genetic testing is not definitive in this condition. You have to have the more invasive test for a definitive diagniois, as I said. All the doctors round the table, plus DH, all knew this perfectly well.

@CheshireKitten123 DH and his sister are twins, I have seen their birth certificate. They are definitely siblings. There are certainly a great many skeletons in his family's cupboard (some of them being related to why he and his sister are estranged). They are part of the reason why he did the Ancestry DNA and I have been putting together his family tree. I am certain that he is not hiding any from me (I also have some big family skeletons, which he knows all about).

@ancientgran he will not go for the breast cancer gene test. there would be no point in my even asking. All I can do is help the girls to go. If they are positive I will have a further discussion with him about it.

@ancientgran previous post should have said that I do not really understand your previous post.

[quote questionandanswer]@ancientgran I doreally understand your last post. The genetic testing is not definitive in this condition. You have to have the more invasive test for a definitive diagniois, as I said. All the doctors round the table, plus DH, all knew this perfectly well.

@CheshireKitten123 DH and his sister are twins, I have seen their birth certificate. They are definitely siblings. There are certainly a great many skeletons in his family's cupboard (some of them being related to why he and his sister are estranged). They are part of the reason why he did the Ancestry DNA and I have been putting together his family tree. I am certain that he is not hiding any from me (I also have some big family skeletons, which he knows all about).[/quote]
I was talking about the testing for BRCA 1 and 2. You said "I am sure they will ask at that appt whether there is any purpose to DH also being tested (I am not clear on that).*

You understand that him testing for MH would mean his children would know if he could have passed it on but you don't know if the same applies to BRCA 1 or 2? You also don't know if there is any purpose in him having testing. BRCA 1 and 2 can have implications for men, as I said my specialist was most insistent that my brother needed to understand that it was important for him to have the same tests as I had, in my case for BRCA 1.

I find it puzzling that you don't know that and that the other 4 doctors sitting there didn't think it was worth him having the test for BRCA but so important for MH.

@diddl they were waiting for him, as they may not need the test if he is negative, and if they have the test they will need to travel, take time off work etc. It's not just a matter of popping to a GP, you can only have this done in a very specialised centre. There is a 50% chance they don't need to test, and he kept saying that he would get around to it when he was not too busy. His adamant reaction now that he won't test is a new factor.

[quote questionandanswer]@ancientgran he will not go for the breast cancer gene test. there would be no point in my even asking. All I can do is help the girls to go. If they are positive I will have a further discussion with him about it.[/quote]
Well why would you ask about the MH, which you said is a more invasive procedure, if you know he wouldn't even have the blood test for BRCA?

@Marynotsocontrary

I'm glad to hear you were negative ancientgran.

Thank you. At nearly 70 I wasn't that worried about me but definitely wanted to know if my children/grandchildren needed to be aware. Lots of happy people when I got the result, felt like I won the lottery but I have 2 cousins who got the other result which is very difficult for them.

[quote questionandanswer]@itsgettingweird one of the DSDs brought it up, in the context of us all discussing some other, different, genetic testing that she and her sister also need to have, and which they have also asked me to look into for them here in Ireland.

We have all been having intermittent conversations about this test with DH over the past two years, it was not sprung on him suddenly at dinner, and he has never before said he would not have the test, just that I should not arrange it just yet as he was too busy. DSD felt that after two years of dithering we should get on with sorting the appointment.

The two boyfriends both already knew all about the condition in DH's family and that testing was required (as I said, they are all doctors), it was not a secret to them. the DSDs had told them ages ago (in the case of older DSD, two years ago when we found out about the condition, in the case of younger DSD, shortly after they got together over a year ago).[/quote]
But your ignoring still the fact he's always putting it off - why.

It's really not easy knowing you have passed a genetic fault onto your children.

Believe me. I know. My ds has a condition similar to CP and MND.
He has a genetic fault. No one in my family has this.

Then we found out I have the gene and it's autosominal dominant.

It's very hard to digest and you do feel defensive.

The information may not have been sorting on him but the conversation about him doing a test he doesn't feel able to do was.

As a dr I really hope you take on board what people are saying about your DH feelings re carrying a faulty gene. You live with it your whole life. A life long guilt.

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.

Agree with this. And the explanation that OP was making appointments for the adult step children doesn’t make it any better either. Why are you getting so involved with other adults healthcare OP?

I think you are making a mountain out of a molehill. If you are so concerned that your son will be out in the wild and suddenly need a GA without your being consulted, get him a med alert card or bracelet.

Your husband is an adult and can choose not to have the procedure if he doesn’t want to. You making the assumption he will do it is a crappy thing to do.

@ancientgran I see.

Well, yes, but one difference is that the girls are going to go and see the breast specialist urgently whatever DH does or does not do, now or later. This is too important for them (and they are both nearly 30 so cannot wait long while he dithers about). Telling DH he should get the breast gene test is going to result in immediate refusal, we all know that. Well, that is his decision. Maybe he will come round after the girls have got specialist advice. He may listen to their breast specialist better than he listens to me (or them). Who knows.

With MH we felt we had the time to let him think about the test and "get around to it", while meanhwile we all acted as if they all had the condition whenever they had to have surgery. There was no harm in that in the short term. All three of the kids have had surgery since we knew about thee consdtion, all had precautions taken and all were fine. We can't take the same attitide to the cancer gene.

[quote questionandanswer]@ancientgran I see.

Well, yes, but one difference is that the girls are going to go and see the breast specialist urgently whatever DH does or does not do, now or later. This is too important for them (and they are both nearly 30 so cannot wait long while he dithers about). Telling DH he should get the breast gene test is going to result in immediate refusal, we all know that. Well, that is his decision. Maybe he will come round after the girls have got specialist advice. He may listen to their breast specialist better than he listens to me (or them). Who knows.

With MH we felt we had the time to let him think about the test and "get around to it", while meanhwile we all acted as if they all had the condition whenever they had to have surgery. There was no harm in that in the short term. All three of the kids have had surgery since we knew about thee consdtion, all had precautions taken and all were fine. We can't take the same attitide to the cancer gene.[/quote]
I hope with their medical knowledge they realise it isn't just their breasts that are the issue, the issues with the breasts is easier to monitor than the ovaries.

My DH would not make a medical appointment for himself unless he was on death's door and probably not even then. He will ask me to sort it if he does need something doing, which I always do. (He also refuses to see a GP so it is up to me to find the appropropriate specialist, which he would not know where to start with).

DSDs live in other countries and want all the testing done here in Ireland, it is easier for me to arrange it for them as I am here, I know the system and the people, it is on my health insurance policy as well, and I also will be arranging their travel for them, so it is easier if I just do it all (as they have requested).

@ancientgran yes they do know. They want to see the specialist asap to discuss it all...

The bar for getting BRCA testing is very high (sadly) - you may find your family members are not eligible for regular testing (not sure how it works in Ireland, my experience is with nhs) and could need to arrange it privately, which is what I had to do to get my diagnosis. I can see in that scenario your DH may feel it is not a necessity. Personally I would want the test done (as indeed I did!) but this is all up to your DH and, separately, his children. The children will just have to go with the info they've got and take their own decisions from there, including your son when he's older (or you'll make decisions on his behalf if he's not able to do so). Testing is not available here for BRCA until you're an adult. If it were me, I would be letting people make their own arrangements so everything progresses at a pace they are solely in control of. I know this is hard, I am having to navigate my way through this with my family too.

@TomsPrisonConsultant this will all be arranged privately, we have medical insurance.

"Apart from DH (and DS obviously) everyone else around the Xmas table was a doctor. "

With a bank of specialist knowledge at your disposal I don't understand what you think a bunch of random strangers on the internet can bring to the discussion ?

And as a doctor you will know that DH has the Right of Self Determination.

And if you are talking about Malignant Hyperthermia Susceptibility MHS) which I think you are, you will be aware that this is sometimes not inherited but the result of a random gene mutation.

You will also be aware that all anaesthetists will be trained to deal with this and any other problems that can occur.

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

I don't think it's uncommon for men to shy away from seeking medical treatment and for their wives/partners to be more proactive on their behalf. I make GP appointments for my DH (with his permission) as I've found he puts it off indefinitely otherwise...

[quote questionandanswer]@ancientgran yes they do know. They want to see the specialist asap to discuss it all...[/quote]
Just checking as you specifically referred to the breast specialist. Ovarian cancer killed more of my relatives than breast cancer.

@Marynotsocontrary

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

I don't think it's uncommon for men to shy away from seeking medical treatment and for their wives/partners to be more proactive on their behalf. I make GP appointments for my DH (with his permission) as I've found he puts it off indefinitely otherwise...

The (with his permission) bit is very significant.

I wouldn't quite call it quite a bank of specialist knowledge, all apart from me were junior doctors in their very first year after finishing medical school! And I am in a field not even remotely related to the conditions being discussed. I was not at all looking for medical information from Mumsnet. I was talking about my relationship with DH and how I feel about his attitude and actions. That seems to have got a bit lost in this now rather complicated thread.

Yes, the anaesthetists have dealt with it wonderfully so far. We have proceeded as if they all have the condition and everything has been fine. One problem is I will not always be there for DS, and he does not have and will never have capacity to deal with this by himself. I could assume he has the condition and have this put on a bracelet and all his records, sure, but is that the right thing to do when we should really be doing tests to see what the truth is?

I know there can be a random mutation, but I also know that people are in general advised to test if a first degree relative has the condition. But I want to hear from the proper specialist what we should do.

DH did not withdraw his permission (already given two years ago) for me to make an appontment. He just unexpectedly, loudly and aggressively announced that under no circumstances will he be having the biopsy.

@TomsPrisonConsultant

The bar for getting BRCA testing is very high (sadly) - you may find your family members are not eligible for regular testing (not sure how it works in Ireland, my experience is with nhs) and could need to arrange it privately, which is what I had to do to get my diagnosis. I can see in that scenario your DH may feel it is not a necessity. Personally I would want the test done (as indeed I did!) but this is all up to your DH and, separately, his children. The children will just have to go with the info they've got and take their own decisions from there, including your son when he's older (or you'll make decisions on his behalf if he's not able to do so). Testing is not available here for BRCA until you're an adult. If it were me, I would be letting people make their own arrangements so everything progresses at a pace they are solely in control of. I know this is hard, I am having to navigate my way through this with my family too.

Very true and even if you are eligible for NHS testing you can wait for months. I agreed to travel for the next available appointment rather than waiting for my nearest hospital and still waited a few months.

@questionandanswer well that's good, I had to jump through some expensive hoops to get my testing sorted. That might add to your DH's reluctance!

I know it's frustrating but I'd try to look at the family members as individuals rather than a series of testing points where the results are interdependent because, although the latter is true and your DH getting tested might prevent anyone else needing tests, it's probably going to make everything harder, including the emotions around all this. Especially if people end up being positive (and in which case your DH's position on this will have changed nothing). And although it sounds like the DSDs are very clear about what they want now, I really would try to get them in a position where they are completely in control of what is going on. This stuff, in my experience, can get unexpectedly (to me) very hard.

@ancientgran I guess I said breast primarily because all the women we can see in one branch of the family tree whose cause of death is known, died of breast cancer. But you are right. I am going to ask the GP next week for advice about who to go to first and where.