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).

Our family has a similar condition. It has always been fine. Fortunately, we have never had an emergency, but I have always put on all the school forms etc that they must inform staff if child needs medical assistance.
I think as long as you make the people in charge of the child aware of the family history of the condition so they can [pass on the info, that is all that you can do.

OP with all due respect, and it's probably because your all Dr's and Dr's have this matter of fact attitude generally about them, regarding health and "medical discussions", I don't think you are going to ever see this from your DH's point of view.

The man is scared, he's anxious, he's worried about his children's health, he is scared himself of medical procedures and he's getting cornered about it all.

Give him some space, talk to him with some empathy and understanding. This isn't just a "medical thing" for him, it's his children's health and his own panic and anxiety. Perhaps a softer bed side manner might help. He clearly doesn't view this as "routine" and some phone calls to be sorted and discussed. Your not making a patient referral here, he's your husband.

[quote questionandanswer]@GabriellaMontez regarding the appointment, I am not going to "ask him to come", this would be his appointment not mine. I will go with him to HIS appointment if he agrees to go. If he won't go then I would make an appt for my DS and go with him. None of these appts can be for me, I don't have the condition.

Yes we are all medical doctors apart from DH.[/quote]
Great. He can speak to his specialist at his appointment and make his decisions.

Nothing more to do until then except stop talking about him like a piece of meat.

@Chewbecca

YANBU at all, of course he should test to a) ensure he has the facts and b) to save his DC potential testing.

I also don’t think you’re U to discuss at the dinner table, anything goes at ours.

Nothing quite so festive as discussing serious medical conditions at the Christmas dinner table.

@Chewbecca thank you for that. I personally did not think it an unreasonable thing to discuss at the table, everyone present knew about the family history, the need for testing, the fact that we had all got rather a shock last week when we found out about the breast cancer and that we were trying to mitigate that by making practical arrangments asap. One DSD just dropped in the other genetic testing that is needed, while we were on the subect of making appointments. As a medical family we discuss medical issues at the table all the time, both in general and about our own health. DH is no stranger to that, he has lived with me for 18 years, and the DSDs have been in medicine for the past 6-7 years.

What I was wrong about was calling him selfish in front of everyone (even though I maintain he was being selfish, I won't say it again). And I think he was wrong to fly off the handle instead of just saying we'll talk about the arrangements later and then telling me privately that he has changed his mind about having the test.

[quote HarrysChild]@TheCanyon testing for a terminal, life limiting, irreversible condition such as Huntington’s is complex and very difficult. Many people choose not to test, as is their right. To dismiss it as “selfish” is way too simplistic and ignorant of what a diagnosis of Huntington’s means for that person - being told they’re a living time bomb who will 100% develop this devastating condition is not something everyone can cope with. Nothing selfish about it.[/quote]
I used to work with someone who wanted the huntingtons tests as grandparent had it. Her father didn't want it and didn't want her to have it as if her test was positive it meant he had it and he felt it was unfair to force that knowledge on him. I don't know what happened in the end.

It is a very complicated issue.

Most parents would do anything to spare their children pain or illness. Your husband refusing to do something like this is really surprising. There are parents devastated they can’t donate kidneys or parts of livers and he doesn’t want to do a biopsy. You obviously will need to do what is necessary to protect your son medically as a first step. I’m not sure I could really just let this go and leave my relationship with my spouse undamaged. Our bond grew when we had our child and I witnessed the depth of his love and protection for her. It wasn’t always part of our relationship, but it is there now and having it tarnished would be difficult.

Your husband has the right to say no.

If you carry on badgering him, you are actually being coercive and trying to force him under duress. That undermines the principle of free consent.

Whilst you might not like his choice, its his body and his right to refuse to find out - he's said he will discuss it with a doctor - so he's not completely hostile to discussing it completely.

I don't think he should be guilt tripped into this. It might well be selfish, but finding out also has implications which he might not want to look into. And crucially more than anything its not your decision to make.

This is about bodily autonomy. He should always retain the right to say no, even if those closest to him don't like it. They have the option to make free choices themselves.

It might suck, but thats just tough tbh. He needs to be able to make that choice himself.

@ancientgran good thing you weren't there for the preceding discussion, which was about the rise of right-wing ideaology in Europe, going on to a long discussion of fascism versus socialism! We are sometimes more interested in talking to each other about things we consider important, including our own health, rather than being "festive", especially after we have not all been together as a family for over 2 years. (We were plenty festive the night before and played charades till the wee hours though).

@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.

YABVU massively to a) say that at all and to b) leave it out of the OP then drip it in later. How dare you.

[quote questionandanswer]@Chewbecca thank you for that. I personally did not think it an unreasonable thing to discuss at the table, everyone present knew about the family history, the need for testing, the fact that we had all got rather a shock last week when we found out about the breast cancer and that we were trying to mitigate that by making practical arrangments asap. One DSD just dropped in the other genetic testing that is needed, while we were on the subect of making appointments. As a medical family we discuss medical issues at the table all the time, both in general and about our own health. DH is no stranger to that, he has lived with me for 18 years, and the DSDs have been in medicine for the past 6-7 years.

What I was wrong about was calling him selfish in front of everyone (even though I maintain he was being selfish, I won't say it again). And I think he was wrong to fly off the handle instead of just saying we'll talk about the arrangements later and then telling me privately that he has changed his mind about having the test.[/quote]
Nope - his reaction is his reaction to something completely unexpected and not as mundane as "we might go for a walk tomorrow", so no, he wasn't wrong.

Why do you think the SDSs should have the test for BRCA 1 or 2, why not have DH get the test for that. It is just a blood test.

OP I think you have been remarkably patient with the many posters who appear only to have read the original post and none of your extensive updates and replies. Posters - you can read all of the OPs posts simply by by pressing 'see all' at the bottom of each post. Try doing that before diving in with an attack based on limited information. And OP, I think your husband is being horribly selfish, and your explanation of how the Xmas dinner table conversation came about is perfectly reasonable. I hope he comes to his senses soon.

@RedToothBrush oh of course it is his decision. I was just musing about my reactions to his being adamant (maybe just in the moment, maybe not) that he would not have a minor procedure which would mean there is a 50% chance our son does not need the same procedure. I don't have to pause for a beat to know how I would react in his position, and so I wondered how this affects my view of him and his committment to our son, that's all.

I'm not going to LTB. I'm not going to force him to do something he doesn't want to do, or guilt trip him. I am not going to make the mistake of calling him selfish again, either in public or in private (although I suspect from what they said before they left that his daughters may). But I am wondering how I will feel about him if he continues to have this attitude, that's all.

Despite the sharing of genes each individual patient owns their own blood/test etc.
So your DH has a right not to be tested on someone else's behalf if it's not information he wants to know for himself.
His DC also have a right to know their own disease status if they want, and if your DS is Gillick competent etc.
If you think he's too young/the testing will be too distressing than having an alert on his records or medi bracelet if you think that's necessary is a sensible step until he's older.
Your DH however will need the same alert as he won't be able to rule it out until he's tested.
It may seem selfish and not what the majority would do but your DH has ultimate say over what happens to his body and this shouldn't be ignored or him made to feel guilty.

@whatwasIgoingtosay

OP I think you have been remarkably patient with the many posters who appear only to have read the original post and none of your extensive updates and replies. Posters - you can read all of the OPs posts simply by by pressing 'see all' at the bottom of each post. Try doing that before diving in with an attack based on limited information. And OP, I think your husband is being horribly selfish, and your explanation of how the Xmas dinner table conversation came about is perfectly reasonable. I hope he comes to his senses soon.

I've read all her posts thanks, still think it wasn't the time or place for the discussion, still think she has no consideration of his phobias. The fact that 5 doctors would spend Christmas lunch talking medical stuff when the sixth adult at the table is phobic about medical issues is incredibly rude and insensitive.

@ancientgran The DSDs both asked me to make an appointment with a breast specialist for each of them, and both asked me immediately to arange the appointments, so that is what I will do. 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).

OP,
"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. "

This is simple, your DH is perhaps not actually related to his "sister" and there are some skeletons in the family closet that he'd rather stay there. Perhaps that's why they are 'estranged'?

Either that or he himself has another genetic condition that he doesn't want people to know about.

I can't see any other reason for him flying into a temper.

I have no idea what you can do about this.

I think it is obvious that there is a point him having the test, if he hasn't inherited the gene he can't pass it on. One simple test for him and the 2 DSDs wouldn't need the test and neither would your son. It seems odd that he has the responsibility to have the more invasive test but it is fine for every to have the other test.

Wouldn't a doctor, let alone 5 of them, know that?

DH is not phobic about discussing medical issues. He has been hearing medical conversation and discussion around the dinner table for many many years. The girls grew up hearing me talk about my work a lot, and that is a large part of why they both went into medicine.

From a standing start of no scientific background or knowledge at all DH has come to understand quite a lot about medicine and will happily talk about his knowledege to others. He is however somewhat phobic about actually GOING to the doctor himself and will avoid it if he can. (He is always very happy to enourage others, including me, to do so, when required).

There is an increased risk for men who carry the BRCA mutations afaik, especially BRAC2. DH should probably be tested too, but up to the specialists I guess.

@Marynotsocontrary

There is an increased risk for men who carry the BRCA mutations afaik, especially BRAC2. DH should probably be tested too, but up to the specialists I guess.

Exactly, plus if he got a negative the DSDs and DS wouldn't need tests.

I can't really understand a doctor not getting that.

@Marynotsocontrary

There is an increased risk for men who carry the BRCA mutations afaik, especially BRAC2. DH should probably be tested too, but up to the specialists I guess.

My specialist was most insistent that I should encourage my brother to come in for testing. My family have the BRCA 1 gene, I was negative.

I have the same condition. I almost died of it as a child during an operation. My boys are due to have their biopsy next year in Leeds, they are 13. Although unpleasant it is needed. It is important for your DH to get tested also - he may not realise but if he has an accident & has to have on scene pain relief he could die from the reaction or not be able to have any administered. The machines at the hospital also need to be fully cleaned before a different anaesthesia is given in theatre, which takes time. Dantrolene, which is the antidote also needs to be on hand. I had an operation recently & I was the 1st person in the theatre that morning after the machines had been flushed overnight. They also hooked me up to a brainwave machine that they had sent from another hospital as there is a risk of being awake but unable to move with the safe anaesthetics. He really needs to know if he has it because if he doesn’t it’s so much easier. If you have any questions PM me, happy to help.

If he is so scared & his daughters think it's about time to be tested-why haven't they been?

Why haven't they found out for themselves rather than waiting for their Dad?

It's what they would advise a patient isn't it?

"Oh just have the biopsy & find out?"