CF Appointment & Genetic Testing
I had my quarterly CF appointment on Friday and it went great. Although, it took forever! Thankfully, I went by myself or Will would have been going nuts in the little room. My PFTs went up (from a 101%) to a 103% - woohoo!! Very excited - I think its a combo of the Cayston and my exercising! I even lost 7 pounds since March, which makes me even happier!! Have no fear, my BMI is still where it needs to be - just had to shed that winter coat I put on.
Everything else checked out fine and I go back in September to be tortured - PFTs, Chest X-ray, bone density & annual blood work. SO NOT looking forward to that. I might as well plan on being gone all day. Now, I just have to find someone to trick into going with me. I get bored by myself in the hospital waiting rooms all day so its much better with someone there (although I can't imagine they enjoy it).
You may recall I mentioned the thought of having Will tested for the CF gene. We started this process in April by having his blood drawn, then it was sent off to Emory in Atlanta. We skipped the pairing procedure and went straight into sequencing which detects about 99% of mutations. We heard back from the geneticist on Tuesday and Will is NOT a carrier!! There is another option to do further testing - deletion/duplication testing, which I don't believe we are going to move ahead with as there is less than a 1% chance that they would find a mutation.
We are not planning anything right now!! Its just nice to know and have that as an option should we wish to have kids in the future - or if there is an accident :) HEHE
Will and I were in Vegas Sunday through yesterday celebrating my birthday!! My internal clock is still messed up from the time change, so I'm moving rather slow today. I'll be sure to post some pics and tell about our trip soon! IT WAS GREAT!! Much needed and helped get my mind off of losing Sophie, although we came home to an empty house which was rather depressing...
Everything else checked out fine and I go back in September to be tortured - PFTs, Chest X-ray, bone density & annual blood work. SO NOT looking forward to that. I might as well plan on being gone all day. Now, I just have to find someone to trick into going with me. I get bored by myself in the hospital waiting rooms all day so its much better with someone there (although I can't imagine they enjoy it).
You may recall I mentioned the thought of having Will tested for the CF gene. We started this process in April by having his blood drawn, then it was sent off to Emory in Atlanta. We skipped the pairing procedure and went straight into sequencing which detects about 99% of mutations. We heard back from the geneticist on Tuesday and Will is NOT a carrier!! There is another option to do further testing - deletion/duplication testing, which I don't believe we are going to move ahead with as there is less than a 1% chance that they would find a mutation.
We are not planning anything right now!! Its just nice to know and have that as an option should we wish to have kids in the future - or if there is an accident :) HEHE
Will and I were in Vegas Sunday through yesterday celebrating my birthday!! My internal clock is still messed up from the time change, so I'm moving rather slow today. I'll be sure to post some pics and tell about our trip soon! IT WAS GREAT!! Much needed and helped get my mind off of losing Sophie, although we came home to an empty house which was rather depressing...
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