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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

Original poster

Serious genetic condition and family have shut me out.WWYD

58 replies

whatisforteamum · 20/11/2020 19:26

This isn't all about me and I do realise that.A young relative was diagnosed with Sudden adult death syndrome 18 months ago.They survived the incident.Everyone was so shocked including the patient and it was an anxious time for their immediate family.Then it was discovered it is often hereditary.Cue more tests for their family.Some of the relatives didn't want to be tested preferring not to know.
My relative cut me off this is nothing new as they have MH issues.Then I found out the patients dsis has been in hospital and been referred for more tests.I wish them well and send regards.
Fast forward to 2 weeks ago where I almost collapsed and this isn't the first time.Ecgs have been fine with no follow up.
Then I realise these are potential symptoms of this hereditary condition.
I have tried to contact the patient,and the sibling as of they both have the condition my first degree relative will too and I will be tested on the NHS.
No reply.I find this v stressful.
I don't understand why they would do this.When I spoke to a genetic specialist they said it can be quite common.
I feel in limbo.Has anyone any advice.

OP posts:
Haenow · 20/11/2020 19:51

I’m confused as to who everybody is but I appreciate you are anxious. Flowers assume they all know about the condition, so they’ll get tested if and when they are ready.

Original poster
whatisforteamum · 20/11/2020 19:54

I can't get tested unless my sibling or the sibling of the patient gets tested.For some reason they have cut me off.Stressful times.

OP posts:
CuteOrangeElephant · 20/11/2020 19:54

Hi OP,

My family has the same disease and it has caused quite a schism. I am assuming you are talking about Brugada Syndrome? It's a really tricky situation. All I will say is that if you want to be tested go and get tested. No one else gets a say. You don't need anyone's permission.

CuteOrangeElephant · 20/11/2020 19:56

Oh that's tricky OP. What is the reason why you can't get a test? I don't understand why your sibling would be eligible?

BernadetteRostankowskiWolowitz · 20/11/2020 19:56

Can you pay privately? I'm sure a private consultant would do it based on the info given.

BernadetteRostankowskiWolowitz · 20/11/2020 19:57

Guessing the relative is the OPs aunt or uncle, and the sister is then OPs mum.

CuteOrangeElephant · 20/11/2020 20:00

@BernadetteRostankowskiWolowitz I had the same situation with my parent refusing to get tested and I managed to get the test done on the NHS.

Original poster
whatisforteamum · 20/11/2020 20:02

Yes cuteorange I am.😢BHF said of someone else was positive I could get tested on the NHS as it runs in families.It was only the other day I thought of all the near faints I have had and palpitations I put down to anxiety.
I wish they would reply.I think they have closed ranks.

OP posts:
HotSince63 · 20/11/2020 20:06

I don't understand why you can't get the test for it?

Could you explain?

Original poster
whatisforteamum · 20/11/2020 20:06

How did you get tested cuteorange? Sorry.it is in your family.We just had our th testing for the BRACA gene to see if we would get cancer so I guess the people involved don't want anymore stress!

OP posts:
CharlotteRose90 · 20/11/2020 20:08

I’m sorry but if you desperately want the test you need to pay private. Some people don’t want genetic testing as they are scared of finding out the results. I know people who have Parkinson’s and Alzheimer’s in the family and won’t have the test. To be honest I don’t really blame them as I wouldn’t either.

Original poster
whatisforteamum · 20/11/2020 20:08

Hotsince63 you need to be a first degree relative.I am second degree.

OP posts:
HotSince63 · 20/11/2020 20:10

you need to be a first degree relative.I am second degree

This is not the case, certainly not where I live. Who exactly told you this?

kmojojana · 20/11/2020 20:12

You need a referral to your local genetics clinic AND a referral to a cardiologist, ideally one involved in an Inherited cardiac conditions clinic. Some inherited heart conditions will only be visible on very specific screening and not on a standard ECG. Speak to your GP about these referrals on Monday. The situation you describe is not unusual the stresses on everyone in this situation are immense. The clinicians will be best placed to help you navigate this.

Original poster
whatisforteamum · 20/11/2020 20:13

British heart foundation.So if either of my other relatives have it it has come from my dsis.

OP posts:
kmojojana · 20/11/2020 20:13

You do not need to go private, this can be sorted by the nhs

Leaannb · 20/11/2020 20:13

Unfortunately their private info is absolutely none of your business. They are not obligated to share any information with you. Have your mother/father get the genetic test

HotSince63 · 20/11/2020 20:13

You need to go and speak to your GP, I think the BHF have misinformed you.

Lemonylemony · 20/11/2020 20:14

The thing is, you can’t force someone else to be tested for the disease. They don’t have to, they might not want to know whether they have it or not and that is their right.

Also, I think there is the possibility that even if they are negative, you could still have it. So you need to find a way to get tested without their being part of it either way.

Talk to your GP again, ask to be referred to whichever speciality is appropriate (cardiology?) as even if you don’t have the disease you should be investigated for the symptoms you’re experiencing anyway. If you’re not eligible under NHS rules, look at private options.

Original poster
whatisforteamum · 20/11/2020 20:17

I have booked a GP call friday.TBH.a.provocation test is needed to aggrevate the situation as a normal ecg would appear.One of my relatives has issues that may be linked.I feel like their knowledge would help my case.v
Like bits of the jigsaw.are missing.

OP posts:
Mmn654123 · 20/11/2020 20:21

Not their job to fit together your jigsaw. Let that go.

Talk to your doctor about your symptoms and what you know of the family history. It’s not about anyone else. Explain the family won’t cooperate or share information.

Original poster
whatisforteamum · 20/11/2020 20:21

Thank you for the sound advice.Very reassuring.I hope my GP can refer me.We do live in an area where they seem to get on the case for most illnesses.

OP posts:
kmojojana · 20/11/2020 20:26

Cardiologist can investigate your symptoms. Clinical genetics can sort out the family history / genetic testing side of things - they help people navigate tricky family situations all the time. If your GP is not helpful google your local genetics service and give them a call for advice.

Original poster
whatisforteamum · 20/11/2020 20:29

Thank you kmojojana how do you know all this?

OP posts:
AcrossthePond55 · 20/11/2020 20:30

Not at all the same as far as seriousness, but I have Coeliac Disease. One of my sons has been tested, the other refuses. It's his choice and I cannot make him get tested. Unfortunately the same goes for your relatives. If they don't want to be tested you can't make them. If they've been tested and don't want to share results, still the same.

I'm still kind of confused. You say 'if any of my relatives have it, it's come from my dsis'. So the 'young relative' and 'other relatives' must be her children? Could they not have gotten it from their father? Anyway, if your dsis has it/carries it then one of your parents does too. They're 1st degree relatives to your dsis, have your parents 'closed rank' or refused to be tested, too?

Is there any chance that you have been, um, too demanding or persistent in your requests? Maybe try for a 'cooling off period' then try to open up a discussion.