sthlmsoul

Medicine was denied. That was so disappointing and stressful I sadly haven't even requested the medicine this year

Besides trying to work it out with your insurance provider did you contact the drug company at all? Some have programs available that facilitate free drug distribution to uncovered patients in the U.S.?

BTW, did you know that there's a CF sub-reddit: r/cysticfibrosis. I'm a little surprised it wasn't called r/65roses.

If your sons is homozygous 508delta there are a lot of things to be hopeful for. As early as sometime next year the FDA may approve a new treatment for homoz508del (Kalydeco+lumacaftor). If approved, it will likely be for either patients of ages 12+ or 18+ initially, but there's a good chance it will be followed by a supplemental new drug application that would lower the prescription rate to peds (2-6) years. So there's a good chance Eli could be on a drug regimen in the very near future that improves lung functionality and significantly reduces pulmonary exacerbations.

We're all gonna die some day.

That's the right attitude. Life itself is a terminal condition is it not? You're right about the improvement in available therapies. There have been major symptomatic treatment advances over the past 20 years or so that has improved the life expectancy to a mean of 37 and a median in low 40's. There's still a slight skew to more patients passing at younger age but compared to 50 years ago when most patients didn't make into adulthood it is an astounding improvement.

The real break-through in the disease area is very recent when Kalydeco, the first CFTR potentiator drug, was introduced in 2012. It was the first of its kind to treat the underlying cause of the disease (incorrectly folded CFTR proteins) instead of offering strictly symptomatic treatment. In addition, very positive Phase 3 clinical data earlier this year has provided strong support for the possible introduction of a CFTR corrector drug as early as sometime next year.

There's also tons of research going on in the disease space by multiple companies which may be able to produce next generation CFTR correctors and potentiators by the time Eli is in elementary school.

I'm always saddened to hear about another diagnosis. What genotype is your son?

Swedish snaps are very hard to find in the US. For some reason it seems relatively easy to find the Norwgian Linie Aquvait. There's an American acquavit from Portland, OR called Krogstad.