Friday, September 26, 2008

I didn't marry a mutant

Because there has been no known family history of PKD in Jeanne's family, it's always been assumed that Jeanne has a mutated form of Polycystic Kidney Disease. Estimates vary, but generally it is believed that about 10% or so of people with ADPKD have obtained it through a spontaneous mutation, with the other 90% inheriting it from their parents. Personally, I've for some time suspected that the mutation rate was probably somewhat overestimated, because it is certainly possible to have a mild enough form of PKD that you never experience kidney failure, and perhaps never learn that you have PKD.

Earlier this week, Jeanne's brother Matthew had to go into the hospital for gall bladder surgery. Last night we got a call from his wife, Emily. Turns out while in there working on the gall bladder, the doctors noticed that he had cysts on his kidneys. While he hasn't been officially diagnosed with PKD just yet, it isn't to hard to connect the dots on this one.

So, it appears that perhaps Jeanne isn't a mutant after all.


PKDmom said... interesting! I'm pretty sure I DID marry a mutant...unless the autopsy report on one of my hubby's parents is wrong. Both of his parents had an autopsy, and both reports indicate perfectly normal kidneys. Unfortunately, we do know our 18 year old daughter has inherited PKD. My hubby has been on Tolvaptan for nearly a year now, so I'm hoping this will be the magic potion that keeps him, and all of the next generation of PKD'ers from ever reaching ESRD. I just want you to know that although I don't often comment, I love reading your updates!

Bob said...

Thanks for the kind words, Marlene. It's always nice to have someone check in to reassure me that my posts actually do get read. :-)