Genetics

We've been waiting for several weeks for the results of Sienna's gene sequencing panel.  This test was to identify her second CFTR gene mutation as we only knew of the one identified through her newborn screen.  Knowing what mutations Sienna has is important for a couple of reasons: some mutations are linked to certain symptoms, and new drugs are becoming available for certain mutations.

After five weeks, we heard back from Ambry lab on their results.

Aside from DF508, Sienna has a duplication of exon 22.  What does this second mutation mean? Good question! We don't know.  Our CF team doesn't know.  To say this mutation is rare would be an understatement.  There are only THREE other recorded cases of it.  Three...in the entire world.  Three!

Our CF nurse told me, "Sienna is certainly a special little girl" in our conversation about these results.  I already knew she was special (doesn't every parent think that about their kid?), but now I know more than ever that she will do big things in life. I am in awe of her everyday.    

So what's our next step? 

Our clinic is setting up an appointment for us to meet with a genetics counselor.  Hopefully this person can explain things to us in layman terms because everything I read online is in genetic gibberish.  This will most likely entail genetic testing for both Joe and I as they are interested in learning more about her rare mutation.

Since Sienna's sweat chloride levels were not incredibly high (in the 70s) and she is currently pancreatic sufficient, her doctor is comfortable holding off on further treatments at this time.  The plan is to monitor her and treat symptoms as they arise.   Her team is still optimistic that her case is more of a mild one...and so are we!