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).

[quote questionandanswer]@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.[/quote]
Well that's a positive and also think about your son, you've only talked about the SDSs in relation to BRCA but you will need to think about your son, in UK it would have to wait till he's 18 as a previous poster said.

Do you know if it is BRCA 1 or 2?

@TomsPrisonConsultant that is a helpful post, thank you. I am going to make two calls to the GP next week. First to ask for DH to be referred to the MH department in Cork. I will wait to see what the speclaist says before having any further discussion with DH about it.

Second, I will ask a specific female GP (very helpful and knowledgable on female health, I have found) to make an appropriate private referral for both girls regarding the breast cancer family history. I will then have to organsise with the girls when they can manage to come over, and get travel sorted. Again, I won't discuss it further with DH (apart from the practicalities of course) until after they have their opinions from the specilaist, including about who else should be tested.

[quote questionandanswer]@ImprobablePuffin he is never going to make any kind of medical appoitment for himself. I am a doctor and I always sort out his health issues for him (to the extent that I can, he mostly refuses testing, won't have his cholesterol done etc). Apart from DH (and DS obviously) everyone else around the Xmas table was a doctor. We dscussed a lot of medical matters at the table including our own medical issues and other more general matters.[/quote]
He's either being a selfish man-baby or lying, imho. I'm most shocked at the idea that a family of medical professionals would even need to debate such a straightforward matter. If it were me I'd just go ahead and have the biopsy.

Q & A.
I was talking about my relationship with DH and how I feel about his attitude and actions.

How you feel is how you feel and no-one can advise you about that as feelings are neither right nor wrong !

And DH, as I said, has the Right of Self Determination and that should be respected. You calling him 'selfish' for exercising that Right was totally out of order.

I don't really understand what you want from this thread.

@ancientgran no idea what gene if any. Just some death certificates which have emerged in the family tree. None of these people would have had genetic testing (we now know DH's mother died of breast cancer, she apparantly always denied that she had it, even when dying. I never met her. Her own mother, the family myths went, died in childbirth. We now know she didn't...there has been a lot of denial in this family).

@CheshireKitten123 I have actually found the thread very helpful. I have found that I was BU when I called him selfish, that some but not all think he really is selfish, and that that his attitude is understandable to some, and not at all to others. I have also sorted out in my mind what I am going to do next, although not the steps after that perhaps. So thanks.

The very best of luck with it all, OP.

@questionandanswer the DSDs might not need to travel, even. I had a counselling appointment over the phone first, with a genetics consultant located elsewhere in the UK, then visited a clinic local to me for a blood test, then had another telephone consultation with the results. Depending on their ages, the DSDs may want to crack on with the initial counselling but then think about when they want the actual test done. Often you're not eligible for screening or preventative surgery until you're 30 so finding out years earlier can be difficult as you know what's ahead but can't take any action. Some people prefer to wait until they can get the definitive result and immediately get into the screening/surgery process which I think is very understandable. This is potentially life changing as well as life saving so I would let them tread their own individual paths as I say.

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

The trouble with that is that some medical professionals will not pay any heed unless something is clearly recorded on notes, electronic or physical, as that makes it official.

I've been fortunate in that I've always been in the position to 'discuss' matters - but I've still had conversations where I've been sighed at and told ve-ry slow-ly and patiently that 'People sometimes think they're allergic to things when what they actually mean is that they felt a bit sick'. Well yes, yes, I am sure that some people do. However, as my reactions have been more along the lines of my skin blistering, my lips and tongue swelling up and not being able to breathe, I'd really rather not test that hypothesis today. They've then gone on to check my records and make humpfing sounds before prescribing something statistically less likely to kill me.

OP's son isn't going to be able to do that; in an emergency, it needs to be on his records as an official diagnosis in case somebody forgets to mention it or there is no time to contact next of kin to check.

@TomsPrisonConsultant that is helpful info thank you. It would be good if they could talk to someone remotely to begin with, it is not easy for them to get away because of their work and studies. I will ask the GP about that. They are 27 and 28. They will need to ask what the age specifications are for any interventions etc. I will certainly tell them they need to each make up their own minds about what they wish to do and when, but I want to help facilitate their getting access to information as much as I can (they have very little time at their disposal as junior doctors).

@NeverDropYourMooncup exactly, if he does have the diagnosis it would be much better for it to be officially on his records as a diagnosis, not just "may have family hx of MH", which I worry would potentially not be as easily spotted or definitively acted upon. When I took him to the hospital for surgery recently I hung around everyone telling them about the potential diagnosis, just to be sure they took it seriously (and I told them several days be the surgery that I was coming to the hospital very early as he had to be the first case in theatre that day, just to focus minds).

I am sure you may know this OP so sorry if covering known ground - but with BRCA testing it’s not as simple as a blood test in many cases. You need to ask your GP to refer you to your regional Clinical Genetics department, not Breast Clinic. They will often need samples from other relatives with the gene, so that they can look for the specific mutation, before they are able to offer BRCA testing. Sometimes without other confirmed histology from relatives with the relevant cancer they cannot test (this happened to me). I see you are going private so that might change things, but most NHS Clinical Genetics departments have a really high bar for testing, as they are constantly swamped with requests. Hope you get somewhere, it’s a minefield.

The adult dd who has already had a reaction to GA and is a dr. Why has she not had a test?? This has been over 2 years in the know and despite you organising all dh's appointments for everything else youv e not done this for this situation that you stress is important for ds but it's all been brought up during Xmas dinner?! I can see why he was taken aback

@HarrysChild I will have to find out who the GP wants to refer to here (Ireland). I will speak to her next week.

There can be no samples from any other relatives as there are none living, apart from his sister, who he does not speak to and will never speak to, and who has not had cancer (I did make sure that she was told, through back channels in the family, about my findings in the family tree though. She has two daughters).

@liveforsummer he kept saying he would do it when he had time. We
that he would. In the meanwhile we all behaved as if they all had the condition. The girls are getting fed up with waiting now and wanted him to get on with a consultation about the matter, hence bringing it up while we were discussing family medical issues.

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 😔

Jesus, Christmas sounds like a proper party in your house!
Your poor dh!

[quote questionandanswer]@liveforsummer he kept saying he would do it when he had time. We
that he would. In the meanwhile we all behaved as if they all had the condition. The girls are getting fed up with waiting now and wanted him to get on with a consultation about the matter, hence bringing it up while we were discussing family medical issues.[/quote]
The daughter is an adult though and has had a reaction so surely she needs to take that on herself and get tested? And as I said you boom every other thing for him but was leaving this til he had time. Confused why it was different, just book the appointment like you do and have for every other issue over the years as you say he is not capable of doing so himself anyway

OP this may be of interest to you, i picked GOSH purely as I used to work there once and could easily find the link, but their genetics testing is for adults and children not just children. It also says there that to get BRCA testing you normally need an affected living relative. This rules out a lot of people I think 😔
media.gosh.nhs.uk/documents/Cancer_genetics_clinic.pdf

@HarrysChild as I understand it, having a sample is preferable (then they know where to look for the genetic fault) but not a necessity. I didn't have one myself, I'm the first person in my family known to have a BRCA mutation.

It’s his body. He doesn’t have to have the procedure if he doesn’t want to. If you were a man complaining about your wife refusing to have a procedure then you’d have been ripped a new one by now. Anyone who wants to know just has to have the test 🤷‍♀️

Poor dh, please. Can you imagine if a mother was refusing a medical procedure knowing her 12 year old child with special needs was going to have to go through it because she wouldn't. I fail to see how anyone can say he's anything but completely selfish. Yes his body his choice but when you have children at least you should be willing to go through a level of pain so they don't have to. He wasn't so phobic when it was an issue that was making him uncomfortable. Yes his choice, 100% but also your choice of how you see him after that choice as I could never forgive, respect or want to be with a man who would make his special needs son go through the procedure with the fear and lack of understanding the child will go through so that he didn't have to and its come from his family line so at the end of the day he has a level of responsibility. Absolutely selfish, should be ashamed of himself.

@HarrysChild

I am sure you may know this OP so sorry if covering known ground - but with BRCA testing it’s not as simple as a blood test in many cases. You need to ask your GP to refer you to your regional Clinical Genetics department, not Breast Clinic. They will often need samples from other relatives with the gene, so that they can look for the specific mutation, before they are able to offer BRCA testing. Sometimes without other confirmed histology from relatives with the relevant cancer they cannot test (this happened to me). I see you are going private so that might change things, but most NHS Clinical Genetics departments have a really high bar for testing, as they are constantly swamped with requests. Hope you get somewhere, it’s a minefield.

Yes, it wasn't clear in the early replies that they don't even know if there is a BRCA connection. In my family they had samples going back to the 60s as my grandmothers samples were still available, then aunts and cousins.

Unlike someone who posted earlier my genetics specialist won't give results by letter or phone, he feels if it is positive he should be there for support/advice so everyone goes back for results. For me it was a bus journey, train journey and then another bus to get to the hospital.

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.

Sorry that was another post to @HarrysChild