Tessa's Genetics

Since Tessa's birth, we had been on edge waiting for her newborn screen results (my post on that can be found here).  Shortly after she was born, I had quite a bit of back and forth with Sienna's clinic to determine appropriate testing for Tessa.  We had never discussed testing during my pregnancy, so once she was here, our Pediatrician suggested waiting out the newborn screen results and going from there.  I reached out to Sienna's clinic asking if this was the best approach, or if there was specific sibling protocol they generally followed.  After a month of no response, we received the negative NBS and followed up with her team to let them know.  We thought we were in the clear, until they finally got back to us suggesting we still pursue testing (sweat test or genetics).  This plus other past grievances pushed us to meet with a new (highly recommended) Pulmonologist in the area.  We decided to hold off on any additional testing until we met with her early this month.

Ultimately, our new Pulmonologist agreed that genetic testing for Tess was necessary to rule out her having CF (even with a negative nbs).  We had an unexpected and nerve wracking conversation around how it was still possible for Tess to have CF with the negative screen, since it lacked any genetic testing.  She encouraged us to skip the sweat test and just complete the genetic testing for the two mutations we know could of been passed on.  So that day, Tess had blood drawn and the worry started all over again.

You need blood? Oh, sure!

After a fairly short, 2.5 week wait, our old Pulmonologist called with the results.  Genetics confirms Tess does not have Cystic Fibrosis.  She is however, a carrier.  She does not carry the common DF508 mutation, but does carry the rare duplication inherited from me.  This is good to know for when she's an adult and looking to start a family.  If carrier testing doesn't change in the future, her mutation wouldn't be picked up in carrier testing.  Now she'll know her carrier status and can use that information however she wants.  (ps. very weird thinking about my two month old having kids of her own already!  Stay little baby girl!!!)



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