What Are You Reading?

Because I've been reading a LOT of really great stuff lately. Stuff like, oh, this for example:

Not Just a Cheerleader: Foundation Helped Drive Cystic-Fibrosis Research

and this:

Vertex Submits Application for Priority Review

or even this:

New Drug Targets Cystic Fibrosis

Talk about a fun mid-semester reading list, right?

As most of you already know, Vertex Pharmaceuticals announced a couple of days ago that it was submitting its new drug Kalydeco (formally known as VX-770, though I still think they should have gone with Em Schaller's and my suggestion of "Blue Lightening") to the FDA for priority review and approval in the treatment of cystic fibrosis patients with the G551D mutation. In English, this means that Vertex, a large pharma company that has been partnering with the CFF for several years on the development of this and other CF drugs, has asked the FDA to approve a new drug that targets the actual defect of this disease for about 5% of CF patients. The 5% in question all have copies of a specific gene mutation that causes a channel blockage in the CFTR process. This drug opens the channel, and that is awesome.

What's even more awesome, though, is that this drug might actually have a wider application than 5%. Right now we KNOW from clinical trials that Kalydeco is effective at helping folks with this specific mutation. What we don't know yet, and what the CFF and Vertex are now working tirelessly to find out, is whether the drug will work for other patients with similar mutations (commonly referred to as "class 3" mutations), whether the drug may be useful in the treatment of so-called "milder" CFTR mutations ("class 4" and "class 5" mutations), and whether the drug might be able to be used in combination with other drugs to treat more common mutations (including DF508, the most common CFTR defect and one that is officially considered a "class 2" mutation). We don't know this stuff yet, but the folks behind this new drug are already on it, and new trials are launching to figure out the answers.

So, you know, if you have CF and feel like being part of something truly magical (and maybe giving your lung function a serious boost in the process!), check out the CFF website to see if there are any relevant trials near your clinic: Find a Trial.

Because this stuff can't happen without us, guys. I promise.

I have to say that it's fascinating to me whenever "my" disease starts appearing everywhere in the media. As a CFer, I've gotten pretty used to being somewhat under the radar when it comes to common medical knowledge. I never tell anyone I have CF without having my explanation of the disease ready, and I'm certainly not prepared to tell someone and have them respond with "ooooh, yeah, I read about that the other day in 'The Cape Cod Times.'" It's a new experience for me and, I'm not going to lie, at least a little unsettling. But it's also revolutionary, in many ways, because what this means is that the world is taking notice of us: of a (relatively) tiny little orphan genetic disease that affects about 70,000 people worldwide, many of whom will die fairly young. And the only reason people would do that, guys, is that we are creating miracles. We are giving them something to believe in, to hope for, and to strive toward. Or, to put it another way, we are giving them answers to questions they never even knew they had.

Take this article for example: Smoker's Lungs Similar to Those of Cystic Fibrosis Patients. This made its way around FB the other day and I snatched it off my friend Amy's profile. The interesting thing here isn't really that smoking makes your lungs suck (we knew that, right?), but more that smoking makes your lungs suck and CF research can help. Recently CF has been all over the place because the stuff we're doing -- the money we raise and the research it supports and the science that creates -- has implications for all sorts of disease out there. Genetic ones, yes, of course, because NO ONE has EVER cured a genetic disease before, and we are so so so close to being the first. But other diseases as well, because just as I now know several non-CFers who inhale Tobi and use the Vest on a regular basis, it's clear to all of us at this point that pushing the envelope on CF treatment to the extent we are all doing, every single day, is going to change the way people think about medical research. Period. And that, quite frankly, is the sort of news I absolutely love to read, and the sort of thing that makes me -- dare I even say it? -- super proud to have CF and to be a part of this community.

So we might be a super small group of people with a super weird set of genes that is super easy for the rest of the world to ignore, most of the time. But I'm happy to say that we're also super dedicated, because we get stuff done. We're super persistent, because we don't take no for an answer -- whether that no comes from a set of doctors who said we'd never live to graduate high school or a set of pharma companies who said we'd never be profitable. We're super loud, because we know that it's not so much the size of your crowd as it is the strength of your voice and the truth of your message. And we're super close, because let me tell you guys: it's working. And if you ask me how I know that now, well, I've got a seriously good answer.

I read it in the paper.