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).

@HarrysChild

That’s what happened to me OP, and I couldn’t get BRCA testing as no living relatives or recently deceased ones whose histology they could access. I was shocked as I had assumed a blood test too but it was considerably more complex 😔

For the person having the test it is just a blood test though. The complications of other samples doesn't make the test any harder to have, they just take some blood, you wait for the result.

@TomsPrisonConsultant

I think the distinction is what it possible (ie anyone can be tested for BRCA faults, but with no other info it's a long search!) vs who is eligible e.g. the NHS sets a very high bar, you need to have a very significant family history (eg first degree relatives), and in those circumstances they want the relevant blood test info to make the testing as straightforward as possible.

I didn't have a first degree relative with a diagnosis but I did have alot of cousins/aunts plus grandmother with confirmed diagnosis, although GM's diagnosis was long after her death.

Yes sorry what i meant was I assumed it was a blood test as in a simple yes or no test, i hadn’t realised it takes months to come back and how complex it is - but yes, for the patient of course it is a blood test

@ancientgran yes sorry, I didn't mean it is essential to have a first degree relative as like you say there are circumstances where other factors make people eligible but the bar is surprisingly high. I thought the criteria where wrong/too high and I'm very glad I did or I'd still be in the dark.

I can’t get my head around some comments: oh how can you talk about this at Xmas dinner or his body his choice or you are undermining your DH by making his medical appointments. It’s nonsense! If there was a chance, tiny chance, that I or DH could go through testing or procedure instead of our DD we would jump to it. And before anyone would comment I did ask him about it before posting, he was surprised that you asked. Do we like medical procedures ? Of course not. But we do love our daughter.

By the way I think it’s normal family conversation at the dinner table about family issues when everyone got together. And I do all appointments in our family and can make a comment like OP did.

Sorry meant in my post that my DH was surprised that I’ve asked

HNRTT though have seen you seem to be on top of this. It seems clear your DS and DSD are a priority to you and it is a shame that their other parent is unwilling to do the action that could give certainty for three younger people, whether down to some health 'anxiety', anxiety about family members' historical causes of death or some other reason.

Good luck.

The difficulty with testing your DH's children without him being tested is that if any of them is a carrier, your DH's carrier status will be revealed to him, as he will be an obligate carrier. With this scenario it is unlikely that a child aged 12 will be able to be tested without some genetic counselling. I would ask for a referral to your local clinical genetics department ( each nhs region has one) for the whole family to receive expert advice. This is not a situation that a gp should be expected to handle, they should refer you.
(I am a genetics professional)

[quote Merryoldgoat]@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.[/quote]
Thank you for the clarification. My child has a very rare mutation on the AN05 gene and we haven't decided yet how to tell her about it. She's just a baby though so we have time to figure it out. It is autosomal dominant so she has the condition, I was hopeful for a minute there that she might not be a carrier! Silly of me. It's a lot to learn. Thanks again.

Very odd. I've always found parents leapt at any opportunity to undergo tests themselves, rather than inflict them on their children. And it sounds perfectly normal to discuss it round the meal table, when most of those talking are doctors.

Oh no I certainly would not expect the GP to handle this, I am just going to ask advice about where to be referred to. @greenlynx thanks for understanding that some families might spend a little time at their second shared meal in 2 years talking about some family health issues rather than feeling pressure to be unremittingly "festive". (When everyone is dispersing again the following day).

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.

If DH managed a haemorrhoidectomy, with it's extremely painful post-operative recovery period, then a muscle biopsy is like a walk in the park.
So basically, he's OK with a lot of pain when it's for his benefit, but a little bit of pain to possibly save his three DC from the procedure is beyond him

@greenlynx I felt the same way that you've said that you imagine you would, when confronted with a genetic testing scenario. But having lived with this for a while, and having to go through this with different branches and generations of my family, I can tell you that people's feelings, including my own (to my surprise), about genetics results and testing, are very complex. It is not just about having a "medical procedure". I think it would be kinder to be less judgemental about this. If OP's DH can't face testing, this option is still open to everyone else, in my view it is absolutely not something he should be made to feel guilty about.

@oviraptor21 yup that is what I am struggling with. One thing though, is that I did not have an anxiety disorder until my late 40s. I was pretty fearless and bullet proof prior to that. Now I suffer quite significantly from it. So I know first hand how anxiety can change through life.

Yes and this might not be about the pain or fear of doctors. Having to confront an issue in the (literal?) fibre of our being, that we may have passed on to our children, and have been "given" by a parent... it's not easy stuff, especially if other elements of your family/emotional well-being are already tricky.

@TomsPrisonConsultant
It’s a simple question for me : who would go through something unpleasant and upsetting me or my child? The answer is obvious - of course, me. The same for my DH. None of us would prioritize our complicated feelings, we would prioritize interests of our child who has additional needs. That’s it.
What does it mean that OP’s DH can’t face testing? He’s adult ffs. So he can’t but 12 y.o. child can? It’s rubbish.

By the way, my DD has additional needs and every simple blood test is a huge thing for her, she’s so frightened and upset. I would rather have them twice a day myself.

@questionandanswer and @oviraptor21
it might also be interpreted that he would not have a procedure done on himself when pain was mild he could manage the pain it was just uncomfortable he could only get the surgery when the pain became unbearable. I know many patients that have fear of dentists that would not come a get a small filling done when the tooth was just sensitive to hot and cold because they could manage with luke warm things no icecream or as it got inti a bigger cavity theywould take painkillers and then more painkillers and then onl arrive when he had full blown abcess and fractured roots so then it was a difficukt extraction not a small filling, although intellectually they knew and understood that a small filling earlier would be better and less painful their fear meant they only ever chose the option of waiting until pain was unbearable and then having the self fulfilling prophecy that it was unbearably painful and difficult procedure , so I can absolutely see why your DH is avoiding a minor relatively painless procedure as the procedure hasn't become necessary as he is not in pain
as a HCP I understand OP's frustration that he won't get the minor thing done but keep telling people to do stuff can have the opposite effect. Even a sinple thing like saying I must have green veg with my dinner I might actualy not mind green veg but you telling me to have them makes me not want them tonight.
Another illustration is s with covid vaccines the more some people are told they must have it, the more they resist as they are not going to be told what to do, so actually keep talking about it becomes counter productive

[quote TomsPrisonConsultant]@ancientgran yes sorry, I didn't mean it is essential to have a first degree relative as like you say there are circumstances where other factors make people eligible but the bar is surprisingly high. I thought the criteria where wrong/too high and I'm very glad I did or I'd still be in the dark.[/quote]
I wasn't sure I'd get testing on the NHS because I know it isn't automatic.

It was a strange set up in my family, my cousins/aunts/uncles knew about it years ago, maybe 20+ years ago. My father died when I was a child and his family sort of cut us off so we weren't told even when my cousins started getting diagnosed. Pretty sick behaviour when you think about it, our only fault was having a dead dad which you'd think was bad enough without punishing us more.

@TomsPrisonConsultant

Yes and this might not be about the pain or fear of doctors. Having to confront an issue in the (literal?) fibre of our being, that we may have passed on to our children, and have been "given" by a parent... it's not easy stuff, especially if other elements of your family/emotional well-being are already tricky.

Someone earlier referred to the father being "responsible" as the gene defect is in his side of the family. That sort of attitude doesn't help does it. I know I would have been devastated if I'd passed the BRCA gene to my kids but at the same time I would have felt no blame on my father for passing it on. It is complicated.

They really should all wear MedicAlert bracelets I'm afraid.

We assumed that a parent testing negative for MH meant the children would be negative so had the biopsy earlier this year, only to discover that with the current testing process a negative test result doesn't mean they're definitely negative* and they would all need to continue wearing MedicAlert brackets anyway.

(*As you mentioned previously, you can have a GA and be okay, but then later have an MH reaction, so this is also true when the testing happens, it just means that on that day there wasn't a reaction.)

As a precious poster mentioned, the phrasing is that you're 'susceptible' to Malignant Hyperthermia, so you won't have a reaction every time (but it's not worth the risk!)

@greenlynx It seems simple to you. Like I say it also seemed simple to me. Like you, think I'd have any test to avoid my child being distressed. But, now in the thick of a family genetic issue, I can see that sometimes, for some of us, it isn't so simple. And the OP doesn't know yet but it's very possible that the OP's child will not even be offered testing until they are an adult. Precisely because these things can be complicated.

@HarrysChild

Yes sorry what i meant was I assumed it was a blood test as in a simple yes or no test, i hadn’t realised it takes months to come back and how complex it is - but yes, for the patient of course it is a blood test

I waited months to see the geneticist but I got the result quite quickly, about 4 weeks I think, but they had tons of evidence about what to look for so it would have been easier with my test.

It was interesting talking to the geneticist and how he viewed it, he said some of the conditions he had to tell people about were devastating but as upsetting as hearing you have BRCA is it was manageable in that you can have surgery and/or be monitored and you have a normal life. One thing he said was if it was positive to tell DD to get a move on if she wanted children. It put it in perspective for me.

@MistletoeMischief

They really should all wear MedicAlert bracelets I'm afraid.

We assumed that a parent testing negative for MH meant the children would be negative so had the biopsy earlier this year, only to discover that with the current testing process a negative test result doesn't mean they're definitely negative* and they would all need to continue wearing MedicAlert brackets anyway.

(*As you mentioned previously, you can have a GA and be okay, but then later have an MH reaction, so this is also true when the testing happens, it just means that on that day there wasn't a reaction.)

As a precious poster mentioned, the phrasing is that you're 'susceptible' to Malignant Hyperthermia, so you won't have a reaction every time (but it's not worth the risk!)

That is interesting. It must be important to make sure the information doesn't get forgotten down the generations.

@ancientgran I completely agree with you. I don't think I will feel guilty if my kids turn out to share my BRCA status. But I know plenty of people do, maybe I will too.

@nocoolnamesleft

Very odd. I've always found parents leapt at any opportunity to undergo tests themselves, rather than inflict them on their children. And it sounds perfectly normal to discuss it round the meal table, when most of those talking are doctors.

Might not sound very nice to the non doctor there when it is being decided that he has to have a test and someone else is sorting it all out. People like some privacy and some control.