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My mutations

meech

New member
Ok, got the paperwork
Two pathogenic variants were found in the CFTR gene. Test by multiplex-pcr analysis for 39 recurrent pathogenic variants in the CFTR gene.
R117H
1717-1G>A
7T/7T

Sweat test 74

from what I have read the R117h is mild.
 

Aboveallislove

Super Moderator
I can't heled with the later, but the r117h is considered a residual function mutation and kalydeco helps it. FDA panel just recommended approving label for those with r117h. Study only supports dr over 18 but obviously helps younger too, but since you're over 18 not an issue. Eu is looking to expand label for r117h for kalydeco only over 18. I don't know what Canada is considering. Given delay in aapproach for kalydeco reimbursement I fear Canada might be a couple years behind...but the good news is that there is a pill that will hel given your mutation. Also, if it were me, I'd talk to doctor about wanting to do the 661 and kalydeco combined study that will enroll in 2015 first half of year for those with residual function mutations since the combo will help more and get you access to drugs much sooner. If you can get your other medical issues stable in meantime that would be best so they don't exclude you. For now though there is lots to do to get you to best feeling you'll likely have had in years. And yes r117h is co sidered mild but hits more heavily in adulthood, as seen by study results. Let me know if this doesn't make sense.
 

meech

New member
I will ask about it, but you are right, Canada is behind. From what I have have read, Kaydeco is only covered in my Provence for a single mutation at this point. With not actually seeing the doctor yet I can only go by what I can find online but it looks line the second mutation is a class 1, but to some point the r117h will over-ride that. I call Monday for an appointment and my hope is I can get one fairly soon. My local adult clinic only runs one afternoon a week though. Thanks so much.
 
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