December 18, 2009 at 2:49 pm 1 comment

I am still so amazed and frustrated by the misinformation that doctors out there give their patients. I have been reading a blog of a pregnant woman whose baby has cysts on the kidneys. They met with a pediatric urologist who first diagnosed ARPKD and then changed it to ADPKD because the look of the cysts.  The mother questioned the diagnosis of ADPKD because of a lack of family history.  According to this doctor: “it once was believed that ADPKD had a 100% penetrance.  Meaning, if you have the gene you got the disease.  However, more current thought is that the disease can skip generations.”  These people are under the impression that they may be carrying the gene for ADPKD but never develop the disease. I am not a doctor but I do know that ADPKD is a dominant disease and you HAVE to have the disease to pass it on. It does not lay dormant in your body. Of course it is different in everyone and presents in different ways and at different times in ones life but it is just shocking to me that this is what these people were told. And what is also frustrating is the lack of education and information on ARPKD and when a doctor is presented with a case of possible ARPKD that might look different than the norm or actually might be not as serious as what you typically hear about then they don’t want to give a diagnosis of ARPKD. My two boys are a prime example of this. Max definitely did not present in a typical fashion and even Gabe at this point having 100% kidney function is not typical. And actually the first pediatric nephrologist we saw who is considered “very good” in the field and is at a good hospital would not give us a diagnosis of ARPKD. Interesting since the DNA testing done showed ARPKD. These doctors that give no hope for survival and then these doctors that don’t even know that ARPKD can present in different forms really frustrate me!!!!


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Yesterday was my 39th birthday!! Sad

1 Comment Add your own

  • 1. Bob Sayah  |  December 18, 2009 at 9:11 pm

    I agree Michele. I remember when Jeanne was first diagnosed with ADPKD. The nephrologist was showing us pictures of babies with cysts all over their kidneys telling us this is what would happen if we decided to have children. Of course, now I know better that these were pictures of babies with ARPKD and they are two different forms of the disease with two different genetic markers, but at the time we sure didn’t know any better. Thankfully, we were smart enough to leave that doctor and find another. I wish that doctors that don’t know the facts would just shut up and refer you to someone else who does rather than spreading false information.


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