Monday, 13 February 2012


Pete and Andy also need to have an ultrasound before cross matching can be done to ensure thy don't have PKD. Previously the hospital said we couldn't consider them for donation because there was a high risk they had the disease.
But after talking to the surgeon we are fairly certain I am the first in the family with the mutant gene as my parents have been screened and told they do not have polycystic kidneys. This makes me a mutant!

Apparently we all have 5 or 6 mutant genes but often they have no impact on our life's.

The PKD gene cannot skip a generation. If you have there is a 50/50 chance each of you kids will have it. If you don't have it then it stops in your generational line at that point. Hence the surgeon saying if my parents are clear there it is unlikely my brothers will have it.

After ultrasound there are some other tests that can be done to give a high degree of certainty that Pete and Andy are PKD free. Genetic testing can be done but presently only 60% of tests find the gene so is not guaranteed and it takes months because thy have to look through the entire Chromozone 16 manually which is as much as 200 telephone directories. Thankfully they don't have to look through all 23 chromozones as this would be like 4000 telephone directories! Only some hospitals do genetic matching but there are other tests which can be done.

I guess I am a little concerned for my children as here is a 50/50 chance they could inherit PKD from me.

Lots of kidney pain today - gonna start on the cocodamol and get off to work.

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