Clear as Mud!!!

Clear as mud (thanks Alicia for the inspiration) that about sums up all of the research I have done today on my two mutations! Just when I think I’ve got it…I realize I’m really not even close!

I was directed to the cysticfibrosis.com website by a new CF friend and WOW that was very informative. I actually emailed the director of Ambry Genetics and he answered some questions I have had about my two mutations. Rather than being classified as mild/moderate/severe CF the more appropriate terms to use are typical/atypical. Mutation R117-7T is a form that is typically associated with variable atypical CF and Delta F508 is associated with typical symptoms of CF. There is a huge range of symptoms that people with the same two mutations can express, so there is really no “simple” explanation. Almost all of my answers will come from meeting with the pulmonologist that we will see on February 11th. The remainder of the tests will be run at that time as well. Praying for patience to make it until then as I write this blog! So, after the twins and having Bennett suffer from some of the most rare complications of prematurity and then researching CF for myself I am thinking that maybe I could go back to school to be a nurse!!! Not really…but, it is interesting to research all of this stuff!

I haven’t mentioned this yet, but my little brother Dave is going in to have the DNA testing done. He actually presents more typical symptoms than I do (reoccurring sinusitis for one) and he has obviously never been tested. He is my baby brother (at age 28 I still call him my baby brother) and I am asking you to please keep him in your prayers as he goes through this scary testing/diagnosis process.

The awesome news of the day: Our blog was featured on marchforbabies.org blog webpage. Click here: http://blog.marchforbabies.org/ in order to read about us. How cool is it that out of thousands of families they chose our blog to feature!?!? I was totally shocked when I went to the march for babies site and saw Team Chunky Monkey out of the corner of my eye…I clicked on my name and it was a link directly to our blog bennettandellie.blogspot.com. . So, this is our 15 minutes of fame ~ isn’t that cool!!! Yeah, I know…it’s the little things in life that get us excited these days!!!

I am thinking I like the “awesome news of the day” and maybe I will try to incorporate it into my daily blogs…

**Remember that you have 102 days left to donate to Team Chunky Monkey for the March of Dimes… We are so thankful to our friends that have donated so far. We are starting early b/c we have doubled our goal from last year ~ every $1 helps! We are counting on you to help us and the future of premature babies is counting on us to help them…together we can make a difference.

Blessings,
Angie