D508/R117 mutations
- Thread starter kittenface
- Start date
just wanted to drop a quick thought. I am W1282X and R117H. when I was diagnosed at 14 the CF doc said I was mild. Well, I am 42 and I have 30% lung function. I cannot even go into all the hospitalizations and surgeries I have had. Just keep that in mind. Mild does not stay mild forever. this disease progresses.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>nocode</b></i> Am I right in assuming that just because Kalydeco works on R117H, it doesn't mean that it'll work on R334W? Great to hear it's helping so many people though!</end quote>
I think that is correct, but I also don't think it means that it won't work on R334W. R117H is both a conductance and a gating mutation, and Kalydeco helps correct the problem with channel gating. I'm not sure if R334W is just a conductance mutation or if it also has reduced channel gatiing. But, even if it just a conductance mutation, Kalydeco still may help because there is some CFTR present on the cell surface.
I think that is correct, but I also don't think it means that it won't work on R334W. R117H is both a conductance and a gating mutation, and Kalydeco helps correct the problem with channel gating. I'm not sure if R334W is just a conductance mutation or if it also has reduced channel gatiing. But, even if it just a conductance mutation, Kalydeco still may help because there is some CFTR present on the cell surface.
kittenface
Member
Hello Everyone,
Well I said I would book the appointment and I did. I met with the CF clinic today and had all of my tests. My blood work was good - everything was normal including my Gluc. testing for CFRD.
My FEV testing was still very good - 95% however when I was there in January this it was 98% (slight drop) My FVC improved. I wasn't going as often as I should and will now be going every 3 -4 months.
I'm going to start my exercise program next weekend - spinning classes and sat down with a breathing therapist (forget their official title) to review my options on therapy. The therapy will be a new thing for me (PEP) and will take some time to get used to.
They suggested I exercise 2 - 3 times a week to start out with and work my way up to 5 days a week. I have to wait for my sputum results since it didn't look too pretty today.
Thank you for all of your answers and support.
Kittenface
Well I said I would book the appointment and I did. I met with the CF clinic today and had all of my tests. My blood work was good - everything was normal including my Gluc. testing for CFRD.
My FEV testing was still very good - 95% however when I was there in January this it was 98% (slight drop) My FVC improved. I wasn't going as often as I should and will now be going every 3 -4 months.
I'm going to start my exercise program next weekend - spinning classes and sat down with a breathing therapist (forget their official title) to review my options on therapy. The therapy will be a new thing for me (PEP) and will take some time to get used to.
They suggested I exercise 2 - 3 times a week to start out with and work my way up to 5 days a week. I have to wait for my sputum results since it didn't look too pretty today.
Thank you for all of your answers and support.
Kittenface
JustaCFmom
New member
I think the "1" refers to the volume of air expelled in the first second.
Thats right, FEV1 is the volume of air blown out in the first second. FVC is the total volume that is blown out (over a few seconds).
D
Deb
Guest
I have the same mutations. I did not know that they were giving Kaydeco to R117H patients yet. I thought it was still be tested.
Kittenface: like others have said, you need to go to a CF clinic routinely. Otherwise strict adherence to meds and an exercise program will keep you as healthy as possible. I feel healthier at 52 than I have in the last 15 years.
Kittenface: like others have said, you need to go to a CF clinic routinely. Otherwise strict adherence to meds and an exercise program will keep you as healthy as possible. I feel healthier at 52 than I have in the last 15 years.
M
marcijo
Guest
Deb-I am on Kalydeco "off-label" because it is not yet approved for R117H. I asked my doctor if he would write me an Rx 6 months ago-he said he would-insurance covered it....and here we are 6 months later! Insurance tried to denied me any further refills 3 weeks ago as I am not a G551D - but after my doctor did a peer to peer call with the insurance company (where he talks to a doctor who works for the insurance company) - they approved it because of the results I am having.
The clinical trial on the R117H mutation is starting now as well-so hopefully I won't have to be "off-label" for long!
The clinical trial on the R117H mutation is starting now as well-so hopefully I won't have to be "off-label" for long!