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To be unsure if I want to know the outcome?

(13 Posts)
NameChangeAutosomalDominant Sat 04-Aug-18 09:54:38

Name change because this is outing.

One of my biological parents has a serious health syndrome. The syndrome is autosomal dominant, meaning I have a 50% chance of having the condition. A lot of my cousins have been passed the dominant gene.

To diagnose the syndrome, you either have to have expensive genetic testing or you have to meet x amount of major criteria and x amount of minor criteria.

I have exceeded the amount of minor criteria needed, including some of the Very visible key characteristics.

I need one more major criteria to be diagnosed with this syndrome.

I have only had one test during my life at the GP about this condition, and guidance from extended family (who have had all of the tests) suggests that my one test was incorrectly conducted.

I don't want to go back to the GP and ask for the next set of tests - I couldn't presume to know more about this rare syndrome than a GP does.

Life span is reduced if you have this syndrome, and it is reduced even further if it remains undiagnosed. I am getting to the age where, on average, if undiagnosed, issues start to occur.

I want to ignore it, and assume that the GP is happy that I'm healthy (at this point). DH and some friends think I need to be pushing at the GP for the relevant tests.

What would you do? AIBU by assuming the GP knows her job in these scenarios and if she doesn't push for more tests then I'm okay to just carry on living life?

Looking for honest, balanced opinions.

CrochetBelle Sat 04-Aug-18 09:56:39

I would, yes. If being undiagnosed could cause you problems, it would make sense to know.
Are you planning children?

GrainneWail Sat 04-Aug-18 10:02:09

If it's a rare condition, chances are you and your family know significantly more than your gp. There are 8000+ rare conditions, a gp can't be experienced in them. It's up to you to decide whether to get the test but if intervention can help you live longer and better, you should seriously consider it. Have you been in touch with the Genetic Alliance? They might be able to give additional advise.

flumpybear Sat 04-Aug-18 10:04:16

Yes I'd find out, it'll be hard but at least you know and at least if it's positive you can get some help
Good luck thanks

Screaminginsidemeagain Sat 04-Aug-18 10:05:32

You can presume to know more about a rare syndrome than your GP.
They are a general practitioner- they don’t have training on every disease going and especially not on the rare ones.
I bet you do know more.
I certainally know more about my daughters rare disease than most doctors we come across. A&E none of them had even heard of it!

Go back and ask for the tests you need.

abbsisspartacus Sat 04-Aug-18 10:07:49

A gp won't know everything about every condition I know more about mine than my gp because it's my condition I've lived it for 20 years

dinosaurkisses Sat 04-Aug-18 10:07:58

One of my mum’s friends has a DH with Muscular Dystrophy. They have two adult children together who were offered testing to see if they would also develop the condition.

One of them had the test, and was found not to be affected.

The other son refused the test, but their mother has noticed them beginning to change their technique of picking things up and taking on some of the mannerisms that their dad had when he had started noticing symptoms.

The thing is, son 2 has children himself, and hasn’t begun to consider plans for when his condition deteriorates. No preparing the children, making financial arrangements, even delaying treatment to help halt some of the effects of the disease.

I’d find out, being that you already feel you “know” you’re affected- you need to access treatment and this is the only way to do it.

DelphiniumBlue Sat 04-Aug-18 10:09:45

Is there any treatment? Or anything which could delay onset? Would you do anything differently if you knew for sure thathat you had this condition?
If you are showing several minor indicators, and the GP is not a specialist, then if you want to know if you have the condition you will need to go back.

*I've just reread your post and see that lifespan can be reduced if you don't get treatment. So it's imperative that you do go back, you can't rely on the advice of 1 GP, given some years ago. You certainly could presume to know more than the GP, you sound very well informed, and your family clearly have experience of it. GPs don't necessarily do proper scheduled follow-up these days. They might not even remember you having the test, if it was the same GP. Did they suggest a review date?

I know you're scared, but you need to get back to the GP and get a referral to a specialist.

HSPandPGD Sat 04-Aug-18 10:21:20

I had a blood test for a rare genetic condition that my mum has - it turns out I have the faulty gene and will develop the condition. It's not life-limiting but it is life-changing, it will significantly reduce my mobility and I will probably be in a wheelchair by 60.

I thought long and hard about whether to get tested or not, and decided I wanted to know the result - I would be able to prepare for the future far more effectively if I knew.

Are you thinking of having children? We are looking into Pre-implantation Genetic Diagnosis, which is IVF, and they can discard any eggs that have the faulty gene.

NameChangeAutosomalDominant Sat 11-Aug-18 08:43:12

I just want to thank you all. I have arranged for a doctors appointment to discuss this further.

MrsMozart Sat 11-Aug-18 09:44:04

I hope it goes well for you flowers

Doyoumind Sat 11-Aug-18 09:49:00

That sounds like the right thing to do OP. As PPs said, I wouldn't assume the GP knows more than your family who have been living with this.

TheLionRoars1110 Sat 11-Aug-18 09:55:55

Well done OP. I've had testing for a hereditary condition (MD) and don't have it. The GP knew very little about it. I saw the consultant who arranged the genetic testing. She was very helpful and I was offered counselling to help decide if I wanted the test. I declined and went ahead with the testing. All the best with this!

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