Tuesday, May 25, 2010


In 1996 when I was first diagnosed with CF, I had DNA testing done to determine my mutations. They found DF508, but listed the second as unknown. A few months ago, I had the DNA retest to see if the advance in technology could help identify the second mutation. And it did! My second mutation is 3849+10kbC-T. A genetics counselor discuss the significance of this gene with me. It turns out it is known to be associated with mild CF. Most CFers with this mutation are diagnosed later in life, are pancreatic sufficient and have higher lung function. These are all true of me too.

Although I really didn't need these results to know I have CF, it is very interesting and somewhat helpful to discover. Especially because the findings of the research completed fits my life so well. They described to me why they think this mutation is correlated with mild symptoms. It mostly has to do with the presence of a protein that is normally absent with CFers. In some cases only a small amount of the protein is present, but it is enough to make a huge difference. A lot of research is focused on this concept to develop a cure.


  1. I'm not quite sure how I stumbled, no tripped is a better word, onto your blog but man, I'm sure glad I did. Must've been Divine Intervention. Anyway, I see that you got some revealing news about your mutations. This is of great interest to me as 2 of my 3 children are diagnosed as mild to mild/moderate CFers; each having a copy of the DF508 and another less common mutation (see my blog for specifics). I've always wondered what "mild" looked like/felt like/sounded like...

    So thanks for sharing. I'll be watching you :-)

  2. What great news - that must be so comforting! Blessings to you! (Love the wedding pic btw ;))