Good news

June 29, 2010 at 8:11 pm Leave a comment

After Gabe was diagnosed with ARPKD we had sonograms done on Max and Nate.  At the time Nate was 3 and his was “clear”. In 2007 we went to the NIH study for the first time and they again did sonograms on Nate, Matt, and myself. At that point it still was not 100% definite it was ARPKD vs ADPKD. We also did DNA testing on Max, Gabe, myself, and Matt, but opted out of having it done on Nate because the sonogram was traumatic enough for him. The thing is during his first sonogram at the NIH the technician thought she saw one cyst. So of course we were extremely freaked out by that. About six months later our nephrologist here in NY did another sonogram and said his kidneys were clear. Now the guru in the field of ARPKD said you can never be 100% sure that someone does not have ARPKD unless you do DNA testing on them. So, when we were at the NIH again in May we asked them to test Nate’s DNA.  To make a long story cut to the point….. the NIH doctor called me today and Nate definitely does not have ARPKD!!!!!!!!! What a relief. Finally some good news related to ARPKD.  They are not 100% sure if he is a carrier. They do not think he is but it’s long and confusing to explain. The boys have two ARPKD mutations. One is the more severe of the two and definitely a disease causing mutation. The other one is missing some things (not sure exactly) and is on the same gene but not definitely the second disease causing mutation. Anyway, Nate does not have either of these mutations. So even if the boys have another mutation that is actually their second disease causing mutation and if Nate has that second one then he would only be a carrier at that point. Does any of that make sense??? Kind of. But really at this point all I need to know is that Nate does not have ARPKD.

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Monday Memories Again

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