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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

tricky family medical (genetic) matter

311 replies

questionandanswer · 29/12/2021 12:42

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).

OP posts:
ancientgran · 29/12/2021 22:00

[quote TomsPrisonConsultant]@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.[/quote]
It is very complicated and raises all sorts of feelings. I suppose my overwhelming feeling at the time was resentment towards these people who were close relatives but I barely knew who didn't share the information with me.

I hope you are well and getting good support and your kids turn out to be negative.

Marynotsocontrary · 29/12/2021 22:04

@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!)

Why do people do the tests at all so and why do doctors advise it? It seems quite invasive and if you're still not sure...I don't really understand why the testing is recommended?
Marynotsocontrary · 29/12/2021 22:07

Or was it the genetic testing that was done, rather than the biopsy, MistletoeMischief?

TomsPrisonConsultant · 29/12/2021 22:08

Thank you @ancientgran. I hear you; once I know which parent/side of the family is involved, I intend to track down the distant relatives. It is going to be difficult to tell them and even harder to hear if they already know!
I'm doing well now thanks, tbh number one priority has been still being here to support them when my kids make their own testing decisions which I guess puts the genetic element into context for me!
Hope you and yours are all well too.

Marynotsocontrary · 29/12/2021 22:08

Sorry, you said biopsy, ignore my last comment Blush

Marynotsocontrary · 29/12/2021 22:10

Wishing you well too TomsPrisonConsultant

MistletoeMischief · 29/12/2021 22:13

To be honest, I don't know!

We only found that out once at the hospital as part of the pre-biopsy chat so continued anyway.

They did (with permission) take some extra muscle for research purposes, so maybe that's why?

Hopefully the accuracy of testing will improve in the future so hopefully we'll have a more definitive answer before our children have children 🤞🏼

MistletoeMischief · 29/12/2021 22:16

@questionandanswer Are you aware that it's not just general anaesthetics that they need to be careful about, but also gaseous analgesics, such as the ones paramedics carry for pain relief?

ancientgran · 29/12/2021 22:18

@TomsPrisonConsultant

Thank you *@ancientgran*. I hear you; once I know which parent/side of the family is involved, I intend to track down the distant relatives. It is going to be difficult to tell them and even harder to hear if they already know! I'm doing well now thanks, tbh number one priority has been still being here to support them when my kids make their own testing decisions which I guess puts the genetic element into context for me! Hope you and yours are all well too.
My brother and I both got negatives so for our branch it is all OK. I feel sorry for the cousins who have had positive results but it is odd as I haven't seen them since they were toddlers, I'm ten years older, and they had the diagnoses years ago. One had surgery, one decided on monitoring and other cousins decided not to have it, I don't know if they have even told their children who are now in their 30s I think. It all seems strange and maybe we were lucky to be cut off!
Marynotsocontrary · 29/12/2021 22:43

Thanks MistletoeMischief.

Strictlyfanoftenyears · 29/12/2021 22:51

[quote greenlynx]@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.[/quote]
This is spot on.

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