Christmas came early and it came from Poland! So Sunday was the best day of our year so far. OK well second best if you count Evan's birthday but I can officially say that I have gotten life changing news. Michael and I came home from our 5th anniversary getaway with a train set and a Christmas tree strapped to the roof of my Mazda. We put up the tree, watched a Mickey Chritmas movie and watched the new train go round and round. While we all laid on the dining room floor watching the train I opened my email on my phone and saw I had a notification from CysticLife that someone had replied to one of my questions regarding Evan's mutation R1162L. When I read this woman's response tears filled my eyes and my heart raced.
My new bestie from Poland - we'll call her MZ - was writing to tell me that she has both of Evan's mutations and what's even better is that she's 33 and perfectly healthy! She only just found out this year when her baby, who is now 8 months old, was flagged through the newborn screen and genetic testing was completed. Thankfully in Poland they immediatly do genetic testing on the parents and it was confirmed that MZ is the carrier of both DF508 and R1162L that they found in her son which means it's most likely that her son is fine since both of those mutations would be on one chromosome. Further genetic testing will be done on her parents I guess to determine if she got one mutation from each parent. I hate to say it but I almost hope that she did. Not that I want MZ to have CF but it would mean that if Evan did get a mutation from both Michael and I he has a great chance of being healthy as MZ said she has little in the way of health problems and what she does have is not related to CF. She said she will keep me posted on the final results of all their family testing. I'm anxious to hear. I know people with the same mutations can have vastly different symptoms and severity but since R1162L has an unknown clinical significance I have to believe that it's practically benign and my baby will be just fine. I have to have faith that if it did have clinical effects they would know something given there are people out there who have it and now with MZ coming up at 33 years old and perfectly healthy it just strengthens my faith.
This news coupled with Evan's fantastic results form his repeat sweat test make me feel amazing. This year was so dark in so many ways that I might just see a little light. Thanks MZ. You have no idea what you have done for me from so many miles away across the ocean.
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