3 ms·

So based on your profile blurb, you've obviously lived a fairly normal / successful life, at least career-wise. The Wikipedia article for CF makes it out to be

So based on your profile blurb, you've obviously lived a fairly normal / successful life, at least career-wise. The Wikipedia article for CF makes it out to be a pretty devastating disease. What affect does CF have on your day to day life? How has this new medicine improved things? How big of a "game changer" is it really? Broad questions, but I'm just trying to get some context here.

bdcravens 7y ago
I feel like I live a pretty normal life. I have the most common mutation of the condition, which is typically results in the worst cases you hear about, but for whatever reason I've always had a mild case (I'm currently 42 years old, with 50-60% lung function). I grew up very poor and in a very immune-system challenging environment (in terms of cleanliness and I had parents who smoked indoors). I wasn't diagnosed until age 13 (most are at birth). I don't think I ever developed a sense of CF being the core of who I was, and I suspect that plays a role. Day to day, I take a lot of medicine as second nature: breathing treatments, insulin pump, and pills to digest my food. I'm a smaller guy, and not very physically strong, and am just short of breath most of the time, so I limit anything that would be challenging like outdoor activity or manual labor. CF causes infertility in males, though my wife and I will do IVF. Like I said, I feel quite normal, though I suspect my chosen lifestyle is a product of CF, so of course it feels normal. TBH Trikafta (and its predecessors) hasn't been a "game changer" as much as some incremental improvement, but others in CF groups I'm in have had greater improvements, so I suspect that's a result of where I started from.
- klipt 7y ago
  With IVF, do you plan to do pre implantation testing to ensure your kids don't have/carry it? I read that many embryos are a genetic mosaic, so testing just one cell as they currently do isn't as deterministic as people think.
  - bdcravens 7y ago
    Of course. We are seeing the IVF specialist my clinic recommends. My wife has been tested to not be a genetic carrier for CF; all embryos are screen for CF and other conditions before implantation.
- dnautics 7y ago
  If you're curious to the biophysics of this, the delta F508 gene is actually functional, but rejected by the endoplasmic reticulum because the ER fails to fold it correctly. It's possible that you have milder symptoms because your protein folding machinery is either more capable of folding the gene correctly, or alternatively, your protein checking machinery is more lenient.

bdcravens 7y ago

I feel like I live a pretty normal life. I have the most common mutation of the condition, which is typically results in the worst cases you hear about, but for whatever reason I've always had a mild case (I'm currently 42 years old, with 50-60% lung function). I grew up very poor and in a very immune-system challenging environment (in terms of cleanliness and I had parents who smoked indoors). I wasn't diagnosed until age 13 (most are at birth). I don't think I ever developed a sense of CF being the core of who I was, and I suspect that plays a role. Day to day, I take a lot of medicine as second nature: breathing treatments, insulin pump, and pills to digest my food. I'm a smaller guy, and not very physically strong, and am just short of breath most of the time, so I limit anything that would be challenging like outdoor activity or manual labor. CF causes infertility in males, though my wife and I will do IVF. Like I said, I feel quite normal, though I suspect my chosen lifestyle is a product of CF, so of course it feels normal. TBH Trikafta (and its predecessors) hasn't been a "game changer" as much as some incremental improvement, but others in CF groups I'm in have had greater improvements, so I suspect that's a result of where I started from.

klipt 7y ago
With IVF, do you plan to do pre implantation testing to ensure your kids don't have/carry it? I read that many embryos are a genetic mosaic, so testing just one cell as they currently do isn't as deterministic as people think.
- bdcravens 7y ago
  Of course. We are seeing the IVF specialist my clinic recommends. My wife has been tested to not be a genetic carrier for CF; all embryos are screen for CF and other conditions before implantation.
dnautics 7y ago
If you're curious to the biophysics of this, the delta F508 gene is actually functional, but rejected by the endoplasmic reticulum because the ER fails to fold it correctly. It's possible that you have milder symptoms because your protein folding machinery is either more capable of folding the gene correctly, or alternatively, your protein checking machinery is more lenient.