What has transpired the last week has truely been a miracle for our family. Last Wednesday, upon reading a post in a CF Facebook group I belong to, I was inspired to check CFTR2 just to check on Evan's second mutation that keeps us in limbo. I check it every once in a while and the status always remains the same: This mutation is still under evaluation and it is unknown if it causes disease. Well this time after I punched in the numbers and letters I was shocked to see the words NON CF-Causing. What? I must have typed in the wrong letters and numbers. I retry. NON CF-Causing. WHAT?? I was in shock. I was feeling all sorts of emotions. Michael was on the phone and I yell for him to get off and look at the website. He reads it and I can see skepticism on his face. I was feeling it too but I was alos REALLY excited! We decide to not count our chickens before they hatch so the next morning I sent an email to Evan's doctor who almost immediatly responded to me that he would check out the updates and get back to me but that this was a reliable source and at first glance it seemed like good news indeed! Elation hits me like a bick in my face and my heart races for the next 5 days until we were able to get to our biannual appt that happened yesterday. Traffice getting into Philadelphia was a nightmare and a normal 45 minute trip took and hour an hour and a half. All the while my head is spinning with wondering how this meeting will go. 5 days ago the status quo would have been perfect but today that would be disappointing given the information we have found. Finally upon arriving and being put into a room the doctor was right on time for our appointment and we got into things. Long story short he says to us "Should we undiagnose him?" Um hell yeah...this is what we have been waiting for for 18 months and here it is staring me in the face. I'm dumbfounded. Honestly I never thought this, the best scenario of them all, would happen to us. I honestly thought we'd be sitting in limbo for the rest of our lives. I honestly thought that no one was ever going to research that mutation and it would always be of unknown significance. I'm happy to say I'm wrong. I'm happy to say my baby boy is just a carrier. I'm so incredibly thankful. Thankful doesn't even seem to be the appropriate word.
I realize that our situation wasn't worst case scenario and that for those who fight CF everyday this seems like a trivial situation. Being in limbo sucked in it's own right and I don't wish it on anyone. I believe that researchers felt the same way now that there are quite a few of us who sit in this limbo which is why they made these updates to about 20 mutations that sit in this unknown or varied significance. They could only do that because of the generous donations to the cause. Because we have now benefited from this we will do everything we can to continue to support CF funding so that others can feel our joy when they develop more of these amazing drugs to help control this disease nd better the quality of life for those who fight it everyday. A cure is hopefully on the way and we're going to make sure we are helping to find it!