Serious genetic condition and family have shut me out.WWYD

[whatisforteamum]

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.

Raffealla that is so stressful.My heart goes out to you.Advances in testing and more knowledge has made life harder in some respects.

Oh wow.Fredanerkk.How interesting is that.Thanks.

Years ago, I asked to be tested for a serious genetic condition that a first cousin had. It wasn’t an issue, GP referred me to geneticist, had a chat with the geneticist about the pros and cons of knowing (I wanted to know in case I was a carrier, if so DH would have been tested before we tried to conceive) and then I had the blood test. I think you may be assuming it’s harder than it actually is to get this resolved.

I don't understand. If your sister can be tested, surely she has the same relationship with the already diagnosed relative as you do?

Why can she access a test but you can't?

I just wanted all the relevant info to hand.As it stands I will go on my symptoms and a mention of the syndrome.

I would go to your GP.

I knew a close relative of mine had a genetic condition that could have potentially been passed to me and subsequently I could then have passed it to any child of mine but it wasn't routinely tested for on the NHS without first jumping through the hoops of all other fertility testing.

I went to my GP and asked to be referred straight to a genetic counsellor based on my family history and they agreed and referred me.

Turns out I did have the condition and I bypassed a lot of unnecessary testing for other things by asking my GP to refer me direct.

Thank you lottielot.

My niece replied she is awaiting further tests due to an arrhythmia.