So I emailed my Cf nurse today to find out the results of my gene mutation test. And this is what she said. .... It is so funny that you emailed me today, they just faxed them to me a couple hours ago! You have two copies of the F508del (or delta F508 as it used to be called) mutation. Around 70% of CF patients have at least one copy of this mutation with almost half of the CF population having 2 copies. It is by far the most common mutation. The exciting news for your specific genes is that the company that came out with Kalydeco is working on getting FDA approval for a new combo drug that would be for patients with 2 copies of F508del. The medications works by helping to correct the function of the chloride channels on the cell surface (the underlying problem in CF). This would not take the place of standard CF therapies but when used in conjunction with them could improve airway clearance/PFT’s, weight gain, absorption, etc. It’s very exciting research and a good indicator that there will be essentially a cure for CF down the road. I would encourage you to check out the CF Foundation website (CFF.org) for the press releases from Vertex Pharmaceuticals related to the release of this new medication. Thanks
Posted on: Thu, 08 Jan 2015 06:03:31 +0000
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