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).

Maybe he is worried how guilty he will feel if he is positive..

@diddl we are all well aware he is needle/doctor phobic. But not to the extent that he wouldn't have surgery if he needed it, would not take vaccines etc. He does have essential procedures, vaccines and so on. He used to work in very far flung areas of the world and had lots of jabs because of that. He didn't like them but got on with them because he had to for work. We knew he was putting off this test because he avoids doctors if possible, but not that he would have that reaction.

@elfycat

We've been through genetic testing since DSis had breast cancer and was found to have the BRCA1 gene. My other DSis and I do not have it, but the pre-screening question was all about how I would feel (including survivor guilt if I did not have it - BTW DSis is fine after her surgery/chemo), what I would do (take it all away please), and what I would do about my own DDs and testing (advise them to get mortgages and life insurance before testing...). DH was asked how he felt about me potentially finding I had the gene - he told them that he's an engineer and you need to know what the fault is before you can work on fixing it (there may be some autistic traits in that engineer). they also cover what if your DF turns out not to be genetically your parent - these things happen

You DH may be having some of that guilt thing. I know my DF is about the gene passing down through him and he feels that he 'gave' his DD cancer. I honestly think he might have rethought having children at all if this information had been available 50 years ago, and I might never have been born. That's the strength of the fear of unwittingly having damaged your children.

And that's before the unpleasant operation to find out.

He might need time to think his way through it all. And pushing him will only make him push back harder against the idea and become entrenched. And it is up to him, no one can force him to have this procedure. IMO you need to finish up pushing him on this with acceptance and say calmly that you'd like him to, for his own sake as much as you DC's, but you appreciate he needs to think about it. And them leave it - for months if needed and maybe revisit it in the summer with a mild question.

Agree. I suspect most PPs who don't see the issue have never been in this situation. Genetic testing throws up a load of complex emotional and ethical issues. It's not a decision that people take on a purely rational basis.

OP, if you are in the UK, make sure that you get this family history added to your DS' GP record.

I suppose all who are concerned that need this painful test should find a sympathetic doctor who can sedate them enough to dull the pain (if the drug used is not the same as for a general anaesthetic). Otherwise leave books about the condition scattered about the house. It seems DH has to decide for himself what he will do.

I am trying desperately to think of any scenario where I would put my child through a test if I could have it for them.

Maybe the Christmas dinner table with non family members present wasn't the place to bring it up.

Embarrassment can be a strong trigger.

So can the fear of pain, which I absolutely get (and why I'm being so silly about calling the dentist).

It needs a private conversation when nobody's on show, with compassion for fear of the pain. And some research into how that pain could be managed in advance.

@Strictlyfanoftenyears I believe the way these things are managed is that if the risk is known then a person who hasn't yet been tested should be treated exactly as if they were positive. Which might be unnecessary but no one is put at risk because they haven't been tested (through choice or opportunity) once the risk is known. So the DH is not putting anyone's life in danger.

I agree strongly with @MissLucyEyelesbarrow and @elfycat - please don't underestimate the emotional challenges that surround genetic testing

@Strictlyfanoftenyears I fully intend to find out whether DS is positive or not, whatever DH decides to do. So he is not putting his son's life at risk. The risk will be exactly the same whatever he does.

@Onehotmessiah his sister is his twin. She cannot have been adopted.

@elfycat he has had approximately two years to think it through. The girls and I think it is now time to get this sorted. Well, he did agree now to see the specialist, so we will take it from there.

@Strictlyfanoftenyears

So ok, if your child is positive (and u dont know), is wearing a bracelet (not foolproof) and is unconscious therefore, cannot warn a dr if needs a GA. Therefore his/her life is at risk, if he/she has an accident is it not? Therefore your DHs actions do have a bearing........ So your children will have to be tested to be sure? What sort of parent puts their child through any tests if they dont have to?

If the father is positive then the child may or may not choose to have the test, he may have to wait till he's 18. If he's positive what happens then? There isn't a cure he will still be relying on the not foolproof bracelet. This isn't something where the father is preventing the child having lifesaving treatments.

@questionandanswer You sound eminently sensible & looking for practical ways to get things done.

Sometimes we realise things about ourselves when our children & immediate family are diagnosed with health or psychological conditions, & it can take some time & iterations to get to the point where we may accept that we are made of the very same stuff. This may involve also giving up some of the ‘constructed’ self that we have build to distance ourselves from the ‘others’ in our lives. This new information binds him back to his sister & all that has gone before.

So to the point, Christmas & any table sat round at that time is a minefield, any subject raised can escalate into open warfare. Let this skirmish go…have dust settle & give OH time to breathe & reflect. He knows what may need to be done & may need time to figure himself out to regroup.

No-one can make him do it. We are living in times where pundits & others speak of compulsory vaccinations with very hard sanctions for the non-compliant. Everyday conversations are becoming tribal & heated. With this as the background music, being expected to face up to a new medical condition, & agree to a possibly painful test may take some people some time to step up. Of course (to me & others) he would have the test - whenever NHS resources are available for this - & why not? Because not everyone is me.

By my choice, I choose to live within my own determined & informed levels of risk & I can articulate that very effectively to medical professionals. Not everyone is like me, they may be overwhelmed by calculating risk, not assimilate information & data comfortably, or articulate effectively when feeling vulnerable, so their default response may be NO with an adrenaline fight/flight response. I would not call that person out as selfish.

What next? Ease off about his taking the test for the whole team, update GP/hospital records as required & bulk order Medicalert bracelet/neck tags.

@SocialConnection the girls and I have had the concresation about making the appointment with him, in prvate, numerous times. This was not just brought up for the first time out of the blue in front of non-family members. His excuse was always that he was too busy, could not take time off etc. Not that he refused to do it. He never said that before.

He's in the wrong, but I think I will you handled it badly by calling him selfish at Christmas dinner

[quote questionandanswer]@Strictlyfanoftenyears I fully intend to find out whether DS is positive or not, whatever DH decides to do. So he is not putting his son's life at risk. The risk will be exactly the same whatever he does.

@Onehotmessiah his sister is his twin. She cannot have been adopted.

@elfycat he has had approximately two years to think it through. The girls and I think it is now time to get this sorted. Well, he did agree now to see the specialist, so we will take it from there.[/quote]
What will you do if your son doesn't want the test?

I think your son should have the test regardless, when he feels ready for it. As should your dh and dsd s. I think it is for you to butt out in all honesty, why argue about something that doesn't affect you in front of your guests? Yabu and controlling.

@ancientgran DS is not going to have capacity to make a decision about the test, even when he is 18. It is always going to be a best interests assessment.

@UniversalAunt DS's GP, dentist, the hospital etc all know about the possibility of his having MH. He had to have dental surgery in a hospital under GA recently and of course this was very much to the fore (first on the surgical list, different agents used etc). The girls also of course inform their healthcare professionals. DH has not been near a doctor since we found out about the diagnosis, so it has not come up (he never sees a doctor if he can possibly avoid it).

@RedHelenB it does affect me, as it affects my DS and it is up to me to do what I can about it.

His body, his choice. Full stop.

@TequilaBlaze absolutely. But that does mean that he is not, in my opinion, being selfish, and so that affects my feelings about him, which is what the thread is about.

You are a doctor but you are completely unaware of health anxiety or phobias? You called him selfish in front of the family about something (doctors appointment) that you say he has had a long standing issue with to the point he can't even make his own appointments? You are making appointments for your DSDs who are doctors living in other countries?

None of this makes sense.

[quote questionandanswer]@RedHelenB it does affect me, as it affects my DS and it is up to me to do what I can about it.[/quote]
If MAY affect your ds
And at age 12 your son will.have a say on the matter of when and if he wants to get tested
Still think yabu, it's not about you.

He needs to take one for the team here (literally!).

I mean I don't think Christmas Dinner was the time to discuss an already contentious issue with a needle phobic family member personally.

It was always going to make him angry and especially you basically saying "tough shit I'm booking the appointment, get your leg/arm/arse out ready for the biopsy"

Take a step back from this. If DH won't be tested then just test DS if he wants it.

Stop pressuring people in to medical intervention when they clearly don't want it round a turkey roast and strangers.

You are well aware of his anxiety surrounding this, talk to him away from everyone else with some empathy and understanding.

Forgive my ignorance about this condition, but is there a significant benefit to your DS of having a definite test result? Suppose you DH did test and was positive, might it still not be in DS' best interest to assume he has it and have appropriate medical care accordingly, than go through an unpleasant muscle biopsy?

Genetic counselling is what you can do about it. Someone who is trained in couselling and the impact of genetic conditions.

I have a background in genetics, and people have asked me to help them with understanding and talking through things. I have always declined as it would be totally unethical for me to give information without considering the counselling side of things, and i am not trained to do that. What i have done is help people set up a list of concerns they want to address when they get to their appointment by as carefully as possible not directing them.

So as to what you can do:
establish your list of concerns, what ifs you want addressed
make an appointment with ds about it with the Doctor to look into the testing and the concerns
take up any offer of counselling/geneticist specialist appointments you are offered.

As others have said, you can't force someone to face their own immortality (which tbh is what you did, and in a very unkind manner), but you can get answers for your son.

Also don't take medical advice from the internet and personal experience without a grain of salt and a real life medical professional's input. The internet and personal experience can lead to false assumptions. Some people faint at seeing a needle, others can watch that sucker draw the blood and not even flinch. We are all different in how we react to medical treatment emotionally and pain wise.