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 would not have DS tested "regardless", if DH tested and was negative, then none of the three children would have to test at all. If DH does not test, then they all have to and they will.

Of course I won't force DH and I will "leave him alone" if he does not agree to the test. I just feel it is selfish of him, that is all, and I said as much at the dinner, once he started being all adamany about not hving it (he could have just said we'll talk about the appointment in the new year or something and then discussed it more privately with me). I of course should not have called him selfish, in hindsight, not under those circumstances. It was a highly charged situation, it was Christmas, we had all not seen each other in two years, we had all had some wine...certainly a mistake by DSD and me to even seek to discuss it then. It just came up fairly casually in the context of discussing other testing as in "oh yes, these are things we all need to start arranging after new year".

Re the previous surgeries: As I have explained, with this condition you can be fine multiple times (as in fact they all have been with GAs) and then unpredicably have a potentially fatal reaction.

Autosomal dominant means that if you have one of the genes you have the condition, You therefore cannot be a carrier. You either have it or not.

@Ilove the only place to have this investigated here is at Cork Universoity Hospital, and DH has agreed to have a consultation there. At that meeting I will discuss what is to be done about DS. I know that you have to be at least 12 to have the biopsy ) which is why I have not pushed this too hard with DH the last two years, DS is only 12 now).

Whatever happens we have to know if DS has the condition. He is never going to be able to reliably speak up about it if we are not around, even in adulthood, so all carers will always need to know about it, especially when we are no longer here to advocate for him (and his sisters are also a great deal older than him so will also potentially not always be around for him).

@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!

Simplistically, if you have an autosomal dominant characteristic, you won't be a carrier because the characteristic will be evident.

You get one copy of each gene from your father and one from your mother (apart from on the X and Y chromosomes). If you have one dominant gene, it will - as the name suggests - dominate.

So, if the gene for loving MN is AD, and the gene for loving Netmums is autosomal recessive, everyone with the MN gene will love MN. But, because the Netmums gene is recessive, only people with two Netmum genes will love Netmums. People with one MN gene (AD) and one Netmums gene (AR) will love MN but be Netmums carriers.

In practice, it's more complicated than that because of variable penetrance and expression of genes. But that's the outline.

@questionandanswer

This is all very interesting. One question - if the condition is inherited, but a person tests negative, is it the case the condition cannot manifest in any remoter issue at any stage? I assume that argument is not true, but if true the implications are for remoter issue to always have to test.

Has your DH considered the financial effects of not getting the test? For example, with life insurance not being able to answer any known family history questions correctly. His children may find it more expensive to get life insurance because it may be health-rated or it may not pay out at all. This will impact on their ability to organise their finances in coming years.

@AlternativePerspective the other condition is breast cancer. Through Ancestry DNA and building a family tree of his family we have found that multiple female members of his family died very young of this, which he had no idea about until last week. The DSDs obviously need genetic testing.

@Magnited that is certainly something to think about. DH already has life insurance, but the girls need to think about this before they test, I guess, as they do not have any yet. In further discusions I will highlight this to them so they can make decisions.

@also, in some genetic conditions there can be a thing called partial penetration ie a less severe version or one thst maifests differently, buyt I don't know enough about this condition. That is one thing I will need to ask the specialist at the appointment.

Was the discussion about genetic testing before or after you pulled the Christmas crackers, put on silly hats and read out the jokes?

@we do all that on Xmas eve. This was at the Xmas day lunch, so after.

sorry about the weird @ and bold

Have I got this right? You havent even seen the specialist yet? And not actually had a recommendation about how to proceed?

I am a little confused - if dsd’s not having it doesn’t mean your ds doesn’t have it - isn’t it the same for your DH? Ie if he had it - it would still not mean your ds definately has it? He still might not have it and will have to do a test anyway? I am guessing if he has it you would want him down on some sort of register - but he will surely only be put on a register if it’s confirmed he has it?
Granted your dh sounds mean because if he doesn’t have it you won’t need to get your ds son tested. But it sounds like if he does have it you would need to get him tested anyway.

No not yet. DH had not yet agreed to go to an appointment. The first step is obviously to see the specialist. But from my reading, the genetic testing can be done but the definitive test is usually the biopsy. DH's sister certainly had to have the biopsy and her daughters have also had it I believe (I don't know what the daughter's results were but the sister is definitely positive).

@ittakes2 If DH has not got it none of the children has it and do not have to test.

If DH has it, each child has 50% chance of having it and so they will all have to test. One, two, three or none of them could be positive, no way to tell without testing.

If the DSDs test and are posiotive, that means DH does not have to test as he must have it. DS would still have to test as he would have 50% chance.

Then I suggest you apologise to your dh for speaking about him at the dinner table in that manner. And assure him there will be no further discussion until you've seen the specialist. Ask him to come and be part of that conversation.

Discussing medical appointments/details of another adult with family members at the dinner table... Are you a medical Dr?

No wonder he was furious.

[quote questionandanswer]@Magnited that is certainly something to think about. DH already has life insurance, but the girls need to think about this before they test, I guess, as they do not have any yet. In further discusions I will highlight this to them so they can make decisions.[/quote]
Hmm...not sure it would be right knowing they have a probability and getting life insurance without disclosing it as a medical condition 'in the family'. Best situation is for DH to get tested. Then, if they need life insurance in future they can cut their cloth accordingly but at least will be able to rely on whatever life insurance they have.

Having been in a similar situation in the past, there is no substitute for having full medical information at your disposal for so many life choices.

Your DH will be selfish if he does not come round to the biopsy. Have not read the full thread and do not intend to.

YANBU to ask your DH to have the test. Makes absolute sense. I wouldn’t hesitate if I was him.

YABU to discuss at the Christmas dinner table especially as there were people there you don’t know well.

So you all sat around on Christmas day discussing the fact that a) all the women die young historically and you may have the gene for breast cancer and then followed by B) a conversation about booking DH in for an appointment for another "faulty gene" he may have passed on to his children.

Poor guy probably feels like shit and wondering what the hell have I passed on to the kids, and then he's called selfish infront of everyone.

Sounds like delightful dinner conversation.

There is no "register" but his carers and healthcare professionals would need to be told, it would need to be on his medical and school records etc, and he would wear a bracelet. He could wear a bracelet anyway, as elder DSD already does, but he is not going to like that (autism and special needs) and it may be uneccessary. Of course as long as I have known about the possibility he may have it I have flagged it up as a possibliy when he has seen doctors, gone to hospital etc, and he recently had surgery under GA, with them treating him as though he has it, just in case.

He needs to talk to his gp, I suspect it's not as painful as his thinks. Of course if one of the dsd's goes ahead and has the test and does have the gene then you know you do need to test ds, though I would personally as he's a child simply subscribe to a medic alert bracelet anyway if you don't already and have it as a maybe along with the autism. My dd has one fir asd, gad, and epilepsy, think it was £60 for the first year (including a silver necklace and bracelet) then £30 subsequently

[quote questionandanswer]@we do all that on Xmas eve. This was at the Xmas day lunch, so after.[/quote]
😂

Me and dh had similar to see if dd could carry what ds has . He faints at needles and gets in a right state but still did it . It's his responsibility I'm afraid and he has to literally man up!

@GabriellaMontez regarding the appointment, I am not going to "ask him to come", this would be his appointment not mine. I will go with him to HIS appointment if he agrees to go. If he won't go then I would make an appt for my DS and go with him. None of these appts can be for me, I don't have the condition.

Yes we are all medical doctors apart from DH.

@CoedenNadolig the issue of making the appointment for the breast cancer testing was brought up in the context of discussing travel plans for the future: having to plan when each of them can get home again and so when I should book travel and medical appointments for them.

We told them about the family history on the phone last week, as soon as we found out, and they said then that they wanted to discuss the practical arrangements when they were home for Christmas, which they were. They were leaving again the next day.

YANBU at all, of course he should test to a) ensure he has the facts and b) to save his DC potential testing.

I also don’t think you’re U to discuss at the dinner table, anything goes at ours.

@TheCanyon testing for a terminal, life limiting, irreversible condition such as Huntington’s is complex and very difficult. Many people choose not to test, as is their right. To dismiss it as “selfish” is way too simplistic and ignorant of what a diagnosis of Huntington’s means for that person - being told they’re a living time bomb who will 100% develop this devastating condition is not something everyone can cope with. Nothing selfish about it.