Tuesday, June 14, 2011

Well, We Got an Answer

But not one I was hoping for.

We got the results of Judith's genetic screen, and they couldn't find the second mutation.  Yep, you read that right - no second mutation turned up.  Apparently, this can happen in about 3-5% of CF cases, so while not common, it's also not unheard of.  Go figure she would fall in that 3-5% - this little peanut certainly likes to do things differently.

We do know that DF508 is present; that was already semi-confirmed with the newborn screen, and was definitely confirmed through this test.  So I'm figuring that my mutation either A.) just didn't show up or B.) is a mutation that isn't recognized yet.  Her pulmonologist didn't come out and "label" her case as DF508 dominant, but I believe we're going to treat it like that is the presenting mutation.  I was really hoping that we could find out what the exact mutation is so we would have a ballpark idea about how mild or severe the disease could be, but we'll never know based off of these results.

I am disappointed and bummed that we don't have more concrete answers (if anything medical can ever be concrete), but I'll learn to live with this just like I've learned to live with everything else that's been thrown my way in the last almost-6 1/2 months.

The good news?  Judith will not need another sweat test.  Ever!  Her numbers were much more conclusive today - they weren't super high, but they're high enough in the range for a positive diagnosis that we can confirm everything.  Last time, her numbers came back at 61 & 62; today, her numbers were 64 & 65.  She'll be receiving another chest x-ray after her next visit to see how things look.  We also have the pleasure of collecting another poop sample to check her pancreatic functions.  It was such a blast last time that I'm so looking forward to scraping her poo into a tiny plastic cup using a wooden tongue depressor and having the cup sitting in the door of the freezer until I can get it to the lab.  *note: insert sarcasm font into previous sentence*  Fun times.

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