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Thread: R334w

  1. #21
    Junior Member
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    Sep 2016
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    Hi Foxalive! My other mutation is N1303K (I checked).
    What do you mean by your last sentence?

    Greetings to Russia.

  2. #22
    Junior Member
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    Nov 2014
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    Nocode, I have b.cepacia in my lungs.
    What kind of bacteria in your lungs?

  3. #23
    Junior Member
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    Sep 2016
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    Pseudomonas. Can you get rid of cepacia? Have you noticed a decline since you got it?

  4. #24
    Junior Member
    Join Date
    Nov 2014
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    5
    I have Cepacia for about six years.
    At first condition deteriorated badly, gradually has stabilised. But she never got so still. Now it is relatively stable.
    I tried to get rid it, but it did not work out. In Russia, the bad quality of care.

  5. #25
    Senior Member
    Join Date
    Jun 2011
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    493
    I had sinus surgery and it helped immensely. No kalydeko here
    Quote Originally Posted by amalone View Post
    I wonder if you all would be willing to resurrect this conversation with an update. I am one of the few people with DF508 and R334W. I would love to hear if anyone with that mutation has gotten a chance to try Kalydeco since you all last posted.

    I am fairly mild in my Cf presentation. My FEV1 hovers around 75% of predicted. I am pancreatic sufficient and have manageable sinus issues. A couple docs have danced around sinus surgery but decided against it. Presently my primary method of controlling my pulmonary function is Hypertonic Saline and regular running.
    ~ Simba15
    56 year old, diagnosed at age 50. Blessed to still be here!

  6. #26
    Senior Member
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    Jun 2011
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    493
    Only 164 people in the world???!!! So doctors know NOTHING about us!
    ~ Simba15
    56 year old, diagnosed at age 50. Blessed to still be here!

  7. #27
    My daughter is one of the 164. She is 18 months old right now. She is F508Del and R334W and pancreatic insufficient. She has luckily not had any hospitalizations yet and we have been through RSV and 2 cases of bronchitis. I am happy to see all the older people in the group it helps to know she has a very good chance at a long life. I hope that they keep testing the mutations with Kalydeco. I have heard that some people have seen positive changes and some not.

  8. #28
    Junior Member
    Join Date
    Feb 2007
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    5

    R347p

    Quote Originally Posted by jricci View Post
    Well I have an update! Itís a long one. My doctor attended the NACFC and spoke to other doctors about their experiences with off label Kalydeco use for residual function mutations. After hearing many success stories, he decided to prescribe it for me. He was cautiously optimistic that it would help me since Iím pancreatic sufficient (have residual function). My mutations are DDF508 and r334w. (r334w is a class IV conductance mutation. It is one of the few conductance mutations that did not show a significant response to Kalydeco in in-vivo studies.) We were expecting pushback from my insurance company and we were armed with a lot of information to appeal if it was denied. But my insurance company covered it immediately, no questions asked. I started Kalydeco 5 days ago. My lung function was at 31% (this was after an unsuccessful round of IV antibiotics. I would say I consider my baseline lung function to be in the upper 30ís/low 40ís). I began noticing a difference within a matter of days! The biggest change I noticed was decreased inflammation. I have had a lot of issues with wheezing in the last 3 years. I could feel my lungs opening up by the 4th dose. I took a deep breath in the cool outside air and could feel the air reaching parts of my lungs that I havenít felt in a very long time. Another big change Iíve noticed is that my mucus is thinner, similar to what it is after a hypertonic saline treatment, except it was this consistency the whole day! I did a repeat PFT today and my lung function was up to 41%. 31% to 41% in 5 days! My doctor said he couldnít remember the last time my lungs sounded so good. Unbelievable! I asked my doctor if Vertex was keeping a database of mutations that have responded/not responded to the off-label use of Kalydeco. He said that the CFF collects data for the registry and this information would be included but it is only released annually. I plan on calling Vertex and asking them if there is any way for them to keep track of off label use. It only makes sense that this information should be officially collected and shared with patients and doctors alike. But in the meantime, Iíll share my story via this forum in the hopes that it will help others with residual function mutations. Hereís to new beginningsÖ
    Hi - may I ask are you still on Kalydeco and still keeping the good results? We are in the same boat with R347P - Class 4/Conductance, not responsive in vitro but also PS and very keen to try Kalydecco or - as DF508 as well - the combination drug.

  9. #29
    Super Moderator
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    Sep 2016
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    Quote Originally Posted by JDsmom View Post
    Hi - may I ask are you still on Kalydeco and still keeping the good results? We are in the same boat with R347P - Class 4/Conductance, not responsive in vitro but also PS and very keen to try Kalydecco or - as DF508 as well - the combination drug.
    Sorry I havenít responded sooner. Just seeing this now. Yes, I continue to do well on Kalydeco. Progress did plateau quickly for me. But in my eyes, stability is progress considering I felt like my health has been faltering for the last 3+ years. The most noticeable differences are decreased shortness of breath, decreased cough, and the ability to sleep through most nights without waking up coughing. I was getting up at least once a night with pretty intense coughing attacks for the last couple of years. Also exercise isnít as grueling as it was. I feel like air is moving more freely and I can take more air in with each breath. I think because my lung function was pretty low (31%) when I started Kalydeco, the results I felt initially were quick and dramatic. Going from 31% to 42% lung function in 5 days felt miraculous. Truly Ėthere is no other word to describe it. I was at a point where even IV antibiotics werenít giving me much relief. And if they did, it was temporary.
    I still have bad days, but prior to Kalydeco my good days were getting few and far between. And even my ďbadĒ days are so much more tolerable now that I have the knowledge that my progression has slowed and my health has stabilized. The fear of my future is no longer the first thing I think about when I wake up.

    Since your son is pancreatic sufficient, I think there is a very good possibility that Kalydeco will be effective to some capacity. I do want to mention that my sweat chloride only decreased by 10%. This may explain the poor in vitro results. But I think what this proves is that it takes very little correction of CFTR function to notice a clinical difference. Is your doctor willing to write a prescription? Do you need any help with getting journal articles? Iíd also be willing to share my medical records with your doctor if he needs some convincing to write a prescription. Let me know if there is anything I can do to help.

  10. #30
    Senior Member
    Join Date
    Jun 2011
    Posts
    493
    Why are people recommending Kalydeco if we are not sick?
    Kalydec

    Kalydec
    ~ Simba15
    56 year old, diagnosed at age 50. Blessed to still be here!

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