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.

At least the main triggers seem simple enough to avoid.

So my son had genetic testing last year. We were able to provide a family history of those that were affected. Afterwards we were sent a referral form for the others that need testing - none of them have got it sorted even though they could die.
My son luckily has not inherited the bad gene.

The dcs have different dfs.It has been 18 months and only my recent recharging symptoms that rung alarm bells.It's not all about me however if I do have it I would rather know.Df died and th has just gone through BRACA gene test that she almost didn't reveal the results as she felt it to be stressful potentially giving bad news.

OP my father has this condition. Myself and his siblings were the only ones called for testing.

How closely are you related to this person?

Thank goodness arnoldbee.
So stressful for all concerned.

I am NHS staff and see patients in exactly your circumstances.

seconde degree relative.Which means means of my dsis or niece has it I would be a.first degree relative.
Sorry about your DF.Is he ok now.Did he receive an ICD?

Sorry I don't understand. You've had one relative diagnosed already, isn't that enough for them to test you?

No it wasn’t deemed necessary. He was given a list of drugs and sports to avoid. Also told running a fever is dangerous and should go to hospital to be monitored if he’s had one for 2+ hours. Consultant checks in with him every 5 years.

In my father’s case it was a hidden illness discovered completely by chance in his 60s when he was receiving tests for something else.

Make an appointment with your GP if you’re concerned but your palpitations could be related to something else including anxiety.

Have you checked the NICE guidelines?

I know a lot of GP that won't refer for BRCA testing because they are suing the old guidelines 🤦🏼‍♀️🤦🏼‍♀️🤦🏼‍♀️😢

I’d like to think a compassionate GP would make a referral once you’d explained your family situation. Good luck.

Oh fibeee I thought you meant another condition that is hereditary.Yes it could be anxiety.
JIlltedjohn I was told first degree relatives get tested I am second or first degree of my dsis has it.
I will see what the GP thinks.I don't want to waste his time however I can't find out through my own family.

Tell them you have been cut off by your family

Thanks Haworthia.

There is an article on Brugada syndrome on the NHS website:

www.nhs.uk/conditions/brugada-syndrome/

Among much else, it states:

'See a GP if:

you have unexplained blackouts or seizures

one of your parents, siblings or children has been diagnosed with Brugada syndrome – this may mean you're also at risk

a close family member has died suddenly with no explanation – it can sometimes be the result of an undiagnosed heart problem like Brugada syndrome
You may be referred to a heart specialist for some simple tests to check if you have Brugada syndrome or any other heart problem'

It sounds from this as though you could be referred for tests just because you have had a few unexplained blackouts, even without knowing whether you have a first degree relative with the condition.

It also sounds from the article as though it would be a good idea to check for it, as, if you do have it, there are quite a few things that could be done to reduce the risk.

Best of luck!

Ddl1 yes exactly and I could mention my relative that gives me the heads up.

I think you're right to be going back to the GP op, deal with the symptoms first, mention the family history etc and take it from there.

Is it possible that they're trying to get their head around this, have the testing done etc and just don't have the emotional capacity to deal with the extended family constantly pushing for more details? I'm guessing you're not the only extended family member asking questions esp if you have half siblings / relatives etc

You are right sleeping standing up.Hell of a blow their dc has this and like I say they have a fragile MH.Besides they could have it too.What with. all the lockdown rules they probably are struggling as this has repercussions.

Have you actually been to the GP OP, and have they said no?

Speaking to them friday.BHFgenetics nurse said if a first degree relative has it they will write a letter of referral for me.

@whatisforteamum

Oh fibeee I thought you meant another condition that is hereditary.Yes it could be anxiety. JIlltedjohn I was told first degree relatives get tested I am second or first degree of my dsis has it. I will see what the GP thinks.I don't want to waste his time however I can't find out through my own family.

Just to clarify OP I was talking about brugada syndrome

Just wait for the GP appointment! They will probably give you a referral.

Fibeee so was I .i I just didn't want to say too much in case any relatives.see this which I highly doubt they will.

I'm in a similar situation. I have a cousin with a serious genetic issue (he's the only one who it has effected in the family although some of us may be carriers without knowing it).

it won't effect me, but obviously could my future children. Currently TTC and I have no way of getting tested to find out whether I am a carrier due to no contact with that side of the family.

It's an awful situation to be in, my heart goes out to you.

Is your issue that you want NHS to pay for the test?

Or is your issue that you would like some more information about your relative's mutation to make genetic testing cheaper/possible?

If the latter - try to contact the health professionals that was treating young relative. Tell them that you think they should disclose the information to you per the recent case of ABC v St George's.
Short summary of legal case here:
www.phgfoundation.org/blog/abc-v-stgeorges-new-duty