The genetic results are disappointing. William has a genetic ‘abnormality’ on the gene that is responsible for the genetic form of FSGS and while they can’t say that caused his fsgs they think it made him ‘more susceptible’ to developing idiopathic (ie non-genetic) FSGS.
More worryingly, because he has a genetic abnormality it means all our other children are potentially at risk. I asked our nephrologist if they could be tested. He said there wasn’t much point: it would lead to anxiety if they were shown to have the genetic abnormality, there was nothing the nephrologist could do until they started showing symptoms (and even then, as we know, there’s not much they can do even when they do start showing symptoms, except tinker at the edges of the disease with very dangerous drugs) and they would have trouble getting life insurance etc in the future. I’m torn between wanting to know to prepare them for the future if they have the genetic abnormality, or to have some relief knowing that they are not at risk (except if the abnormal gene didn’t cause William’s kidney disease, then the others could, in theory, develop the idiopathic form anway, right?) but loading up their life insurance premiums/problems for mortgage applications etc in the future.
I don’t really understand – or particularly care – how genetics work but I would imagine that either Matthew or I have passed on this faulty gene and presumable whichever of us it is, is at risk too. If neither of us has the faulty gene then I assume Wiliam’s gene developed abnormally in the womb. In which case all that avoiding alcohol and unpasteurised cheeses was a waste of bloody time. Should have sat on a sunbed with a glass of wine or three and scoffed a rare steak and Stilton sandwich every week.
But the worst of it is that a genetic abnormality may mean his FSGS is less responsive to any of the meds that sometimes help other patients. Which may explain why the Ciclosporin – which we initially thought was working – doesn’t appear to be.
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What a worrying time for you all. I always think it’s best not to look to far ahead and worry about things that may never happen. That’s not always easy of course. Hoping there is positive news for you all soon.
An awful decision to be faced with, and one which no one can make for you, thinking of you x