Monday, May 3, 2010

Article regarding gene mutations, sodium chloride channel, and DIFFERENT OUTCOMES

Check THIS out. For many years (uh, like 25...since they discovered the gene for CF...something like less than 30 since I'm almost 30...) ... For many years, most CF docs and the community have put great stock that "we are what we ... gene..." oh wait, that sentence doesn't make sense....

My point is, people believed that if you have X genes you will get X outcome. As gene mutations were separated and studies via the CF Registry, these conclusions were first supported, but lately are being debunked, and then rebunked, and then debunked again. It's a conference-sponsoring nightmare of opinions!!*

Take two examples: 1) Me and Cystic Lady. CL and I have the same Cgenes, and obviously a lot of other genes in common too. I am getting my tx at age almost 30, she needed hers at . . . 27. Her health, prior to tx- and she can correct me if she thinks I am miss-characterizing her- but her health, prior to tx, can be described as "worse" than mine. Now, is that because she is 4 years older and not seeing the benefits of new drugs like Pulmozyme and TOBI as early as me? Heh....maybe. Or is it that there is way more to this disease than the sodium chloride defect that is dictated by our mutation? Another CL and CG example- I have more stomach problems than she does. In general, I have more malabsorption issues. If same genes and same access to care and same meds available, and same height, and same food culture, and for 14 years, same food, etc etc etc- then WHY?

2) The brothers in the article. Oh yeah, you gots to read it. And its really just an abstract. Go on, you 'kin do it!

*See CG dislcaimers a-h: I am not a doctor. I have two degrees in the arts. There are days when I do not believe in western medicine, but I always believe in Unicorns.

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