Results?

I received a phone call from Myriam, the genetic counselor a little while ago.  The Athena Lab had called her with the test results and she wanted to pass them along to me right away.  After her phone call to me, she was going to let Dr. Ponkey (the specialist working with us along with  my general OB) know the results. 

Let me preface the following information by saying that she is not a doctor and really doesn't know what all of this means.  I do appreciate the fact that she wanted to get the information to me right away, but we definitely need to talk to Dr. Ponkey to find out what all of this really means ...

Kenton is a carrier for the gene that causes Finnish nephrosis.  The good news is that he only has 1 gene, not 2, which means he does NOT have Congential Finnish Nephrosis.  However, this just raises more questions.  What is causing the severely elevated protein levels?

The lab is wanting to do another test to see if he has a different gene mutation that could also cause kidney nephrosis.  Myriam didn't know what all of this meant, of course.  She was telling me the names of all of the different genes, but it all sounded like a foreign language to me.  With the help of the Internet, I was able to find the exact test that the lab would like to run.  Here is the test itself:  http://www.athenadiagnostics.com/content/test-catalog/find-test/service-detail/q/id/1837.

From there, I was able to look into what this test would actually tell us, since Myriam really didn't know either.  I found a medical journal that explained Pediatric Nephrotic Syndrome.  There was A LOT of medical jargon that I didn't understand.  However, the prognosis page was helpful: http://emedicine.medscape.com/article/982920-overview#aw2aab6b2b5. 

In the meantime, Aaron and I enrolled in a Patient Payment Program through Athena Labs.  We found out that my insurance does not cover genetic testing (although we're still waiting to hear if it will since it is considered maternity).  Since the original test cost roughly $3000, they have a program that would allow us to only pay $500 total, rather than the full amount.  I have a call into the Lab now to see if the $500 we paid will cover this new test as well, or if it will be another fee.  

So, I guess we received good news today.  We just don't understand what it all means.  I'm hoping that Dr. Ponkey will call and discuss this all with us.  If not, she will be receiving a call from me tomorrow.  ;-)