(Or possibly will continue taking it if they have CF as we can expect more CF patients to have children)
Ninety-five percent of men with CF lack a vas deferens, leaving them effectively sterile. The medical community is understandably reluctant to assist two people with CF in reproducing together as their child is guaranteed to have CF.
If you are at risk of having a child with CF and know it, a best practice is to try to not conceive a child with CF.
I doubt taking a drug during pregnancy would prevent a male child from being born without a vas deferens and see no reason to care. Just try to not have a baby with CF. It's called a Dread Disease for a reason.
It won't alter the underlying genetic condition, but there has been at least one case report that taking these CFTR modulators during pregnancy can improve the condition of the fetus/newborn:
https://www.sciencedirect.com/science/article/pii/S156919932...
https://med.stanford.edu/news/all-news/2023/07/cystic-fibros...
According to the CF Foundation, the cause of the lack of the vas deferens is not conclusively known.
The scarring of the lungs and pancreas really can't be reversed.
Personally, I suffered from an extreme case of eczema my whole life, which left me effectively a disabled person. Although eczema doesn't have a significant effect on life-expectancy, there wasn't all that much to live for, and I had basically given up on being able to do normal things like exercise or travel.
So it was very surprising to "hear the good news" that Dupixent(https://en.wikipedia.org/wiki/Dupilumab) was being released in 2017 (also fast tracked as a breakthrough therapy), I got on it, and it's made me 98% a normal person.
Here's to continued funding for new miracle medicines to help more groups of sufferers.
Yes, the worst was a period of months when I was effectively a burn victim (>70% of body with severe bleeding sores, and fully bedridden). The worst part was that, unlike with a burn victim, it wasn't clear to me if I would ever heal out of it.
Luckily it got a bit better to at least get out of bed, and then Dupixent came along a few years later.
It's really amazing how much the human mind adapts both upwards and downwards. These days I find myself sad about the same kinds of stuff as everyone around me (money, relationships, etc.), and I honestly don't think about where I was just ~6 years ago.
But in really down times, I do find it a mental panacea to just remind myself about my past which pretty much instantly solves any feelings of depression.
I assume you meant "injections" :)
For the value that Dupixent provides for me (effectively infinite), I'd do just about anything. So the injections don't bother me at all.
Though injections do make international travel a bit more complicated. Daily-pill eczema treatments would definitely be more convenient in that respect!
Although tbh I have had several nasty infections from then-untreated eczema...
The convenience is offset by higher risk of side effects, though luckily I seem to have avoided those.
The pills really seem to be the solution for me.
My eczema had gotten pretty bad in recent years, and much of what you said resonates with me, though I don't think I ever got to the point of being effectively disabled.
My skin is like 90% smooth now with some last stubborn patches, but I'm hoping with time they and the residual scarring will start to disappear.
I use to worry that my body would someday stop responding to Dupixent, and my whole life would suddenly crash down around me. But luckily that hasn't happened yet, and with all the monoclonal antibodies in the pipelines, I'm actually confident medicine will be able to outpace my condition.
Every new cure discovered also frees up resources to perform more research on the remaining deadly diseases.
Cancer, of course, being the big one.
Fexofenadine became available OTC available in the UK in 2020 and the pharmacist suggested I try it. I don't even carry tissues anymore during the summer months. If I ever miss a day though, it's immediately obvious.
It's not life or death, or anything like it, but it's a wild improvement in my qualify of life.
Reading your experience makes me so happy that people with CF are finally seeing a light of hope in their experiences. You do all the walks, donate the money, remind people this disease exists and it’s so destructive but it always kind of felt like science wasn’t throwing a lot of energy into CF, so I’m so glad to see this development. I’m so happy for you. I wish my brother could have had that chance, but I imagine, given his incredibly generous nature, he’d be just as happy for all the CF survivors today who now have a fighting chance.
CF has no bearing on what I can tolerate, though the fattier the food, the more difficult it is to digest. In a situation where I had no access to my medication, I'd focus on eating simple carbs, like fruit.
I don’t know very much about CF so I took the opportunity to read a little about it.
A hunch struck me that CF seemed like a disease where N-acetylcysteine might be useful (NAC). Have had good and unexpected results with NAC in relation to Type 1 diabetes; not widely used in that context afaik but recent literature describes mechanisms and benefits.
NAC is quite strange. Does a lot of things and works for a lot of stuff. Enough to seem a bit implausibly effective. It’s a mucolytic antioxidant which also replenishes certain important biological precursors and also has an effect on histamine and mast cells somehow, not just through being mucolytic (“slime-dissolving”). And more iirc. Just… does a lot.
There’s literature on positive effects in congestion, anxiety, diabetes, placental health, brain damage from methamphetamine poisoning in rats (!), COVID illness and recovery, and on and on. As I said it seems kinda implausible how widely NAC seems to help. I’ve seen it have very clear and obvious benefits. T1 diabetes isn’t really something you can delude yourself about; no bargaining with it.
As I read about CF I thought of NAC. I didn’t seem mention of it on the Wikipedia page for CF, but a Google Scholar search turned up some recent papers.
‘N-acetylcysteine (NAC) and Its Role in Clinical Practice Management of Cystic Fibrosis (CF): A Review’ —Guerini & co. ‘22 https://www.mdpi.com/1424-8247/15/2/217
Wanted to share and ask if you had any experience with or thoughts on NAC?
I have to say that the distinction between alternative remedies and… idk, mainstream medicine?, this distinction feels spuriouser and spuriouser.
Before Trikafta, I usually had a 5+ day stay in the hospital every year, and sometimes I have would very stubborn respiratory infections that just wouldn't go away. I was mentally preparing myself for inevitable decline and eventual death.
Trikafta changed my situation dramatically. I've had no hospitalizations, and most the classic CF symptoms are either gone or extremely diminished. It can't undo a life of damage to things like my pancreas, vas deferens, etc, and I still take medicine to digest my food, but overall, it's as close to "normal" as I could hope for at this point.
The only real downside: weight gain. With CF the pancreas is blocked, so you lack in digestive enzymes, and it's a struggle to maintain a healthy enough weight to battle respiratory infections. After Trikafta, I gained some 30 pounds, and have a big belly on my small frame, and went up some 6 inches in the waist. To add insult to injury, it happened during the spring and summer of 2020, when buying clothes was a challenge due to the pandemic.
Speaking of the pandemic, the timing of Trikafta was amazing: it kept the normally full "CF floors" of hospitals empty, opening up those beds for those with COVID and keeping CF patients less exposed.
One side effect I should mention: many report extreme anxiety. However, I was starting an anxiety medication for the first time (something I should have done 20 years ago, but alas ...) and so those effects were muted or hidden to me.