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).

@CoedenNadolig

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.

this in spades

@LizzieMacQueen

Who brought it up over dinner?

Because that was not the place to discuss it obviously. Unless the person who started the conversation was hoping for the reaction which followed.

This was my initial thought.

You need to understand the emotional guilt and stress of a parent who may or may not have passed a gene fault to a child to see why in front of strangers this was hard for your DH.

That doesn't excuse his behaviour but to say his behaviour was awful 8n front of strangers seems unfair and one sided when he was being told to muscle biopsy to see if he's passed a genetic fault to his children in front of strangers.

This is a conversation he does need to firstly have with his GP. This is far more than just a test.

@Midlifemusings I am entirely aware of anxieties and phobias. I had no idea he was quite so phobic about this specific test that he would actually refuse to do it. He has had plenty of procedures, tests, jabs etc in the past, if they have been necessary. He used to work in a job where regular quite painful vaccinations were required, and he did them although he didn't like the, because he had to. He has had multiple surgical procedures, some completely elective, in the past. Was he anxious? Very. Did he moan and groan? Oh yes. But he didn't refuse.

His inability to sort out his own healthcare is part of a wider issue with life admin in general, which is done by me to a great extent. Largely caused by severe dyslexia and then exacerbated by his avoidance of health issues.

DSDs have asked me to sort this out for them because they want the consultations and the tests done in Ireland, which is where I am and where I know the system. So I am happy to do so. They are both very junior doctors in training and I still have them on my health insurance policy as well.

@RedHelenB my DS does not have he capacity to make this decision, and he never will have. We have to make it for him, in his best interests.

Never mind, I see you state you are a GP. You should know my above post then.

I will say the utter ignorance of Doctors can be quite astounding when it comes to mental health and people's perception of doctors. And it is actually one of the reasons why i am like your DH and point blank refuse to engage with a doctor unless it is essential - ie potentially life threatening, and even then only if i have exhausted other professionals first. I simply do not trust them to not put their own personal biases ahead of patient care needs any more.

His refusal seems to be coming from a place of fear. Hopefully he will change his mind - for his own sake as well as that of his DC. I'd be cross too tbh, you expect a father to protect their child. But I agree it was the wrong time to have the discussion, though I realise this wasn't deliberate.

I used to know someone who did the testing for MH after the muscle biopsies had been performed. He occasionally complained that the surgeons had taken too small a piece of muscle to allow him to do the test. Something to keep in mind. But this was many years ago...maybe things have changed since then.

From what you've written, it sounds like a condition that runs in my family. My mother had the biopsy nearly 40 years ago (she had to go to Liverpool for it as nowhere else had the specialist people to run this sort of test at the time; the condition is very rare).

She tested negative so my siblings and I are all supposedly unable to have it, but we have always been under strict instructions from my mum to inform doctors of the possibility. My family discovered the condition when a cousin died having his tonsils out as a child, so I fully understand my mum's anxiety around any of us having GA.

Over the years, my siblings and I have had one or two anaesthetists just shrug and say no problem, and others who have taken it very seriously despite my mother testing negative. When it became clear I might require a C section for one of my children, my consultant prepped a theatre just for me, in case I ended up needing a GA (which was a very remote possibility!) The theatre stayed out of use to other women delivering babies for 3 days while they tried to induce me. So yes, if it's the same condition it is super serious but even if your husband tests negative I would always warn doctors of the possibility your son may have it. My consultant wrote the abbreviation of the condition followed by 'susceptible' on my notes and told me that if I presented at hospital when she was not working, I was to ensure every nurse or doctor who came near me was made aware of this.

She also told me I should just get tested and that it is not nearly as invasive a test as it used to be. I've never got round to it though.

Possibly unrelated but 2 of my siblings and I have had unusual reactions to some pain relief over the years (in some cases, even supposedly powerful drugs have just done nothing for us) and I've always wondered if it could be linked.

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.

If you’re planning to have DS do the test anyway then I’d drop it with DH and not mention it again to save any arguments.

Sorry, I've just seen that you confirmed it is MH in one of your responses. This is the same condition we have in our family, too.

@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).

@HillsBesideTheSea I am not a GP and I knew very little about this condition before we heard about it two years ago!

@PurpleFrost that is very interesting. Maybe a medic alert band in any case then. Well, not for DH, he won't wear it, it will be put in a drawer and never seen again. But for DS. The elder DSD has had an odd recation to a GA in the past, although not hyperthermic, and we did wonder if there was a relationship. She does already wear a medic alert band.

It was unclear in your post where you say he ended up with wife and 2 dds that were doctor

but you are still forcing him to face his best before. Some people just can't do that. So people have no choice, and some people chose to die rather than face it. At the end of the day it is something that really should be dealt with by counsellors. And tbh if you go forwards with getting ds tested it is likely they will want dh to be part of the process of discussing it and then there will hopefully bea less confrontational approach.

Knowing you might have, and knowing you actually have is two very separate issues. And despite the fact that I am comfortable with it, there are a lot of people (noticeably with english style upbringing) where you just do not talk about this stuff EVER, and definitely not with other people because it is not seen as the appropriate thing.

I know this as we have a genetic (several in fact) conditions in the family that you can trace multi generational. And NONE of my cousins even had a clue until one family do and i was talking to a wife and i drop the bombshell, oh yes that comes down from X and typically has this comorbidity. It is just not done to talk about it even within family, and has never been done since. I just quietly keep the logs and tracking from the small snippets that come through.

I have a muscle problem that is on the same gene at MH. I had 2 muscle biopsys 30 years ago to get my diagnosic. They didn't check for MH as they didn't know what the problem was at the time so were looking for the muscle issue. I just wear a band and carry a card. I could get another biopsy but cba - I have 2 scars already and don't want a 3rd. Feel free to PM me if you want any info.

Not understanding the pushing him into a corner. If surgery is planned then surely all involved just mention this prior as a possibility so surgeon and anaesthetist is aware. If you do have it, and someone has an accident and is unconscious, they are not going to be able to say anything irrespective whether it has or has not been confirmed, so medical bracelet. So essentially, by forcing your DH into something he doesn’t to do, what is it going to achieve. Get your DS a bracelet. If your DS is having planned surgery/procedures, then you mention it. If your DS has emergency surgery then they will note the bracelet. For all those saying bracelets are not foolproof, how do you think it works with people who have had it confirmed but can’t communicate prior to surgery/ don’t have ID on them at the time etc!

Hang on your DH has had operations under GA already has he, was there no adverse reaction to this or did he say he might have it and they just adjusted accordingly?

If you plan to have DS tested regardless then just drop this with DH in its entirety? He's a grown man, he can make risk assessments leave him be. If he doesn't want to know, then that's up to him. More fool him we may think, but he has capacity so it's his gamble to take.

I'm confused as to why this is such a big issue now as you plan to test DS regardless and all the daughters seem to be aware and willing to be tested.

Leave the man alone. It's up to him

Your DH is no 'father' if he's not prepared to spare his children the pain of this relatively minor operation.

If you're capable of giving birth to his children, then he's more than capable of doing this for them.

www.hopkinsmedicine.org/health/treatment-tests-and-therapies/muscle-biopsy

My experience is of chromosomal abnormality rather than this kind of condition (a balanced translocation which was discovered after a stillbirth, but not related to it). But the thing which links them is the sense of shame that many people can feel.

I think your husband is wrong and I hope I would behave differently, but he may have felt especially humiliated having this topic brought up in front of strangers, and lashed out because of his sense of shame that he might be the carrier of a potentially fatal condition. Hopefully, he will calm down and change his mind.

I agree it's selfish. I noticed you said it autosomal dominant and therefore he can't be a carrier? That was not my understanding. Our family is going through some testing right now so I was just curious about that if you care to elaborate!

you all cornered him looks like 5 to 1 in a subject that you probably understand better but you look like a bunch of bullies I am a retired HCP and I think the way you called your DH selfish in fromt of the rest of the family is incredibly poor behaviour undermining your DH and acting like senior parent no wonder he was cross you humiliated him too "I know what I'm talking about you don't" is the gist of it No adult and especially no spouse likes to be put down shamed or bossed around in public ( to him it could feel like public as he barely knew boyfriends)
your continual medical talk when he is present might actually be increasing his phobia not decreasing it , maybe you should just stop talking medicine as a family when one person is essentially out of conversation, it can't be pleasant feeling like an interloper at the doctor's mess
as dentist I deal with a lot of phobic and anxious patients it would not have helped even one of my patients deal with their anxiety by listening to a bunch of dentists discussing dentistry

MH (malignant hyperpyrexia) is able to be avoided .

Any anaesthetic that can be local or a nerve block is fine

A GA that needs muscle relaxing agents needs to be done by a consultant anaesthetist using a vapour free circuit and a “clean machine”. They cannot use a machine that has had a normal anaesthetic gas put through it as the pipe work carries remnants of it.

You need an appointment with your son and the MH department at your local big hospital.

Feel free to PM me if you would like to talk further. I have reacted to anaesthetics as has my mother, and my kids are all now aware too.

They possibly cannot do the muscle biopsy on your 12 year old as the muscle mass won’t be there to do it, however it IS manageable.

@BookFiend4Life

I agree it's selfish. I noticed you said it autosomal dominant and therefore he can't be a carrier? That was not my understanding. Our family is going through some testing right now so I was just curious about that if you care to elaborate!

@BookFiend4Life

All of your cells have half of their genetic material from your mother and half from your father.

In autosomal dominant conditions the simple presence of the gene means that the condition will occur. You could have one affected gene from one parent and one unaffected gene from the other but you will still have the condition as the condition only needs one instance to express itself. Huntington’s is an example of this.

In autosomal recessive conditions you need to inherit the gene from both parents to have the condition. If you only inherit it from one person you are a carrier.

Sickle cell anaemia is an example of these.

I’ve used the words genes in place of alleles for ease of communication in case anyone is about to jump on me

@BookFiend4Life

Carrier is generally used to refer to someone who does not have a condition but can pass it along. So technically yes, if you have the condition you ‘carry’ it but carrier isn’t the correct description as they are an affected party where a carrier isn’t.

@TeacupDrama

you all cornered him looks like 5 to 1 in a subject that you probably understand better but you look like a bunch of bullies I am a retired HCP and I think the way you called your DH selfish in fromt of the rest of the family is incredibly poor behaviour undermining your DH and acting like senior parent no wonder he was cross you humiliated him too "I know what I'm talking about you don't" is the gist of it No adult and especially no spouse likes to be put down shamed or bossed around in public ( to him it could feel like public as he barely knew boyfriends) your continual medical talk when he is present might actually be increasing his phobia not decreasing it , maybe you should just stop talking medicine as a family when one person is essentially out of conversation, it can't be pleasant feeling like an interloper at the doctor's mess as dentist I deal with a lot of phobic and anxious patients it would not have helped even one of my patients deal with their anxiety by listening to a bunch of dentists discussing dentistry

Agree. If the OP had deliberately set out to entrench her DH's refusal, she couldn't have done it better. You do not overcome someone's fears or incorrect health beliefs by shaming them, especially in front of their family.

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). and here we have it. There is a serious genetic condition in the family, which he may have, and which his children may have, presumably your DS will need to be tested as well. And the discussion about this less serious condition (let’s be honest it’s only serious if you have to have a GA, so isn’t life altering) was dropped in during the discussion about the more serious one.

I suspect his reaction, apart from feeling railroaded in front of his daughters’ partners,was more of a response to the serious condition he potentially has, but got caught in the discussion over the lesser condition.

What is the serious condition? Is it life altering?

It’s like piling things on top of one another. Having a discussion about building an extension on to a house, which is really stressful, and then throwing into the middle of the conversation that “you need to ring the plumber about fixing the dodgy flush on the toilet, I’m going to ring them tomorrow, by not ringing them you’re being selfish,” The plumber is largely irrelevant in relation to the wider discussion, but because it’s thrown into the middle of the stresses of the other discussion that’s the thing that the respondent focuses on.