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.
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AIBU?
To be unsure if I want to know the outcome?
12 replies
NameChangeAutosomalDominant · 04/08/2018 09:54
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