on hope, celebration and community

this has been a big week for CF. spurred by outstanding phase 3 trial results published in the the new england journal of medicine and the submission for fda approval, news of ivacaftor has literally taken over the media, dominated conversation among the CF community and clogged my family members' email inboxes. people are really excited - and they should be.

as the first drug that addresses the underlying genetic defect in CF, this is a huge victory for people with the particular CF mutation that ivacaftor treats, the CF community at large and the CF foundation, which has provided significant funding for this groundbreaking drug from the get-go.

i believe in celebrating victories and this one deserves a serious celebration. the stories about ivacaftor are absolutely mind-boggling. people report getting their lives back, re-gaining lung function they haven't seen in years or even decades and starting to make plans for a future that previously seemed too tenuous to plan.

although ivacaftor is currently only for people with the CF mutation g551d, which accounts for 4-5% of the overall CF population, the idea is that this breakthrough brings us significantly closer to similar scientific and clinical developments for the remaining 95-96% of the CF population. it is a jumping off point for many more exciting trials in the near future.

wonderful things are happening in the CF world. it is just a matter of time before bigger chunks of the CF population see the benefits. believe me when i say, they can't come soon enough!

if i'm going to be totally honest though, as completely thrilling as the current vertex hoopla is, there is a nagging part of me that feels, well, envious. i'm envious of how tangible hope feels for those 4-5% of CFers with g551d. i'm even envious of the huge push for a similar treatment (or combination of treatments) for people with at least one copy of df508, which affects a whopping 90% of the CF population.

from a macro level, finding a drug to correct the underlying genetic defect in 90% of a disease population is a slam dunk. from a personal level though, as someone who doesn't fit into either the g551d or df508 categories and with an fev1 that has little, if any, cushion at this point, i'm struggling to figure out where i stand in all of this. there is so much excitement, so many incredible things on the brink, but i just fear that i don't have the time to wait.

let me reiterate that i'm thrilled about these developments, i'm overjoyed for the tons of deserving people they benefit and i'm truly starting to believe that the CF experience is changing - all for the better. in the midst of all this excitement, i have 3 sincere hopes:

1. i hope, from a purely selfish standpoint, that i can hold out and benefit from these incredible developments; 
2. i hope that this doesn't fragment the CF community or slow the drive to find life-changing treatments -- or, yes, even a cure -- for everyone living with this awful, awful disease; and 
3. i hope that they don't forget about the rest of us, who may only comprise a mere 5-6% of the population, but who deserve a shot at a longer and healthier life just the same. 

i will say that i'm both comforted and uplifted by a pledge by dr. bob beall, president and ceo of the CF foundation, at a national CF conference this week. he promised, "we will not rest until every CF patient with every mutation is able to receive a therapeutic benefit that corrects the basic defect of CF."

so, with that in mind, let's celebrate this major advance and let's celebrate fully, but let's also remember that we're a community and communities look out for each and every member, no matter the race, ethnicity, religion or genetic mutation. let's not stop fighting (and researching, fundraising, participating in trials, advocating...), not even for a second, until we can honestly deliver on the hope and bring positive change to each and every member of our community.