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Thread: R334w

  1. #1
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    Question R334w

    I have read there are about 114 of "me" in the world - R334W. Anyone here with that?
    ~ Simba15
    56 year old, diagnosed at age 50. Blessed to still be here!

  2. #2
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    I am one of the 114. I also have the combination DF508 and R334W. I'm 41, was diagnosed at age 7 with a sweat chloride of 110, FEV1 is 48%, colonized with MRSA and pseudomonas, pancreatic sufficient, history of severe pancreatitis. For the past year and a half, I've been struggling a lot with wheezing and inflammation. I'm currently in pulmonary rehab with does seem to be helping with the inflammation.

  3. #3
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    jricci...if you are pancreatic suffcient are you on kalydeco.? if not id ask to get on asamph

  4. #4
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    I agree with Aboveallislove! Pancreatic sufficient sounds like a winner!! Abby is not pancreatic sufficient and it still helped her...not the way that it helped the G551D's but enough so that I can't imagine going back!!
    --Jenny
    Mom to Clayton 12 no CF
    and Abby 9 diagnosed at age 2, mutations are DF508 & 2585delT
    multiple sinus surgeries and currently on Kalydeco since June 2012

  5. #5
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    There are 5 members on our site with this mutation.

  6. #6
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    I was very hopeful as I did research and discovered that my mutation in a class IV conductance mutation and since I have CFTR and the cell surface that Kalydeco should be effective. However, as I did further research, I was disappointed as the in-vitro studies of my mutation,r334w,did not show promising results with Kalydeco. VanGoor classifies r334w as a severe conductance mutation. See the following slides: http://www.flickr.com/photos/[email protected]/7670225762/.
    Even with these results, I still believe Kalydeco should have some effect on me since I am pancreatic sufficient and must have some functional CFTR at the cell surface for this to be possible. I was very close to participating in the Ivacaftor clinical trial in Denver, however I am not able to since you are required to stop hypertonic saline for the duration of the study. Ironically, my doctor had stopped HTS on me about 3 months ago, thinking that I may have developed a sensitivity to it and it may be contributing to my inflammation. This 2 week trial without HTS did not go well and my PFTs dropped about 15%. So I know I wouldn't be able to omit it from my regime for the duration of the clinical trial which I believe is 7 months. I have not attempted to see if my insurance company would approve Kalydeco off-label, but highly doubt they would with the research that has shown it to be ineffective with my mutation during in-vitro studies.

  7. #7
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    Wow. You're on top of it. And thanks for much for info on hts. A friend asked if our DS would be in a trial of the combo and I said he's too young but I don't think we would anyway because he's on hts and it works really well for him and I wouldn't want to stop. I think I'd ask the doctor to prescribe and see what happens. If they ask for letter of medical necessity the pancreatic sufficiency and residual function might do it, and he could suggest a 3 month study with SC before and after.

  8. #8
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    I again agree!!! I can't tell you what a difference it made in Abby who does not have the right mutations...I can not imagine going back to the way things were!! All they can do is tell you no. I wrote a detailed summary of how she did on it in CFTR Modulation and Gene Therapy Talk this morning....check it out When Abby started Hyper-Sal I could see a huge difference!! This is 10x more of a difference and yes she is still on Hyper-sal.
    --Jenny
    Mom to Clayton 12 no CF
    and Abby 9 diagnosed at age 2, mutations are DF508 & 2585delT
    multiple sinus surgeries and currently on Kalydeco since June 2012

  9. #9
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    That's very encouraging news Jenny. I'm so happy for her. It's a shame your doctor isn't on board. I know how important it is to have a good relationship with your doctor. What insurance do you have? Did it have to go through an appeal process? I will talk to my doctor and get his thoughts on it. You're right, it never hurts to try!

    Aboveallislove- Hypersal wasn't allowed in the study I was speaking of because change in baseline sweat chloride level was one of the outcome measures. It is thought that hypersal can influence sweat chloride values. I'm not sure with the future combination drug studies if sweat chloride will be an outcome measure. I thought I remembered reading somewhere that change in FEV1 will be the main measure. So Hypersal may be allowed in future studies. I'm not certain.

    Thank you both for the encouraging words. Hope is always uplifting : )

  10. #10
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    We have Humana and all that was required was a prior authorization which was a very small questionaire that the dr filled out and faxed in and BOOM we have approved Kalydeco for 2 years!! I feel very blessed. I hope you start feeling better no matter what!!!
    --Jenny
    Mom to Clayton 12 no CF
    and Abby 9 diagnosed at age 2, mutations are DF508 & 2585delT
    multiple sinus surgeries and currently on Kalydeco since June 2012

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