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Thursday, January 5, 2012

Ultrasound and Genetic Test Results

After our OB appointment, we then had a growth ultrasound on Kenton. 

Kenton is doing fabulous!  He is estimated to be 2 pounds, 10 ounces and in the 51%.  This is bigger than Talan or Hunter ever measured.  He is definitely a stubborn boy and wouldn't cooperate for the technician again.  However, we did get some pictures of his face, which we weren't able to get last time.

This isn't the best quality, but you can still see his cute face!

We then met with Dr. Ponkey, who reviewed the ultrasound with us, as well as had the final genetic test results for us.  The brief synopsis is that the genetic results were inconclusive.  I will do my best to explain, but I'm definitely not a doctor.  :)

In order for Kenton to have congenital nephrosis (problems with his kidneys), he needs to have two recessive genes.  They checked through a couple of different genes and were able to find one of the recessive genes, but not the second.  Since this is such a rare disorder, it is unknown if there are more places in the DNA where the gene can be and so they aren't sure if they missed it or not.  So, it could be that he is simply a carrier for congenital nephrosis and perfectly fine.  However, it could also be that he does have congenital nephrosis but they were just unable to locate the other recessive gene.

At this point, we do everything we can to help Kenton "cook" longer and wait until he is born to find out conclusively what is going on with our little man.  Dr. Ponkey suggested that we set up an appointment with the NICU doctors over at Banner Thunderbird.  Since Kenton's possible diagnosis is extremely rare, it's important that the doctors know about it in advance and are prepared for his arrival.  When he comes, they will do a test on his urine and see if there is an excessive amount of protein.  If there is, then we will see a pediatric kidney specialist and go from there.  If there isn't, we'll praise God! 

Either way, he is a blessing to our family and will be a great addition to my brood of boys. 


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