Fantastic News from Poland!

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. 

Alone with Evan

I can barely remember my maternity leave last winter.  After Day 6 it's a blur of doctors appointments, worry and tears.  On Wednesday I got to thinking that I never get to spend any alone time with Evan.  I get plenty of time with Connor every night after Evan goes to bed and I cherish it so I decided I need to make more of an effort to make one on one time for Evan.  I took Thursday off to spend the day with him since that is the day that Connor goes to daycare while my mom watches Evan.   It was so nice to be able to focus soley on him and watch every move he made.  I got to work on table foods with him since he seems to have a bit of a gag reflex and hasn't been too keen on real foods that aren't puree.  He loved sucking on my apple and even attempted to bite it with his three lonely bottom teeth.  I put a couple teeny tiny pieces of it in his mouth and I think he was actually working on making the chewing motion, an act which has seemed to elude him.  Later that night at dinner he grabbed a piece of lettuce from my plate and for the first time brought food to his mouth!  I was so excited!  He's even showing interest in the sippy cup.  Now, these may seem like normal things for a 9 1/2 month old baby to be doing but you haven't had Connor as an older child.  It's hard not to compare the two but I never had trouble with getting Connor to eat.  He was never opposed and he took to the sippy cup like a pro at 6 months old.  This is all I knew so to have Evan be so blase about food and drink is a new experience and of course I worry that he'll still be drinking formula at 18 months while trying to grow out of this gag reflex and that he'll never learn to chew!  I know it's ridiculous. 

Yesterday I also realized that since Day 6 I have been wishing away this first year and I ever so regret it.  In the beginning of this journey I kept setting dates to make it to and my thinking was that once he reached that "age" we would know for sure that he was ok and we would know he wouldn't have CF.  I'm learning that isn't true.  We may never know for sure.  I made myself crazy for the first 6 months to the sweat test that I feel is the true indicator of his status.  I prayed and prayed that that day would get here and when it finally did I looked back and thought of all the time I missed out on worrying about every breath and every noise he made.  Even after he came back with a very normal sweat test result I still found myself looking forward to January and the one year mark and the next follow up visit we would have with Dr. Kreindler.  I keep checking off the symptomless days thinking that once we get to one year and no symptoms we'll be home free.  I know that's not the case so why am I not living in the moment?  I'm trying.  The fact that I know my rationale is not appropriate, or healthy, is a good thing.  It means I can try to change it.  So I think yesterday was a good start.  I just played with my baby.  I didn't think of CF once when I looked at him.  I just looked at him as my normal healthy happy baby.  It won't be long before I'm planning his birthday party and I'm focusing on that and not focusing on the appointment I need to make at CHOP.  I recognize it's part f our lives but that's the thing...it's only part...a very small part.  There are many others who have to make CF a bigger part of their lives but again...it's only part.