For The Rest of Us

I'm sure by now most of you have heard the news.

For those who don't yet know, however, today was a watershed day for the CF community. For a long time now, CF research has been aimed at what Dr. Beall, the President and CEO of The Cystic Fibrosis Foundation, likes to describe as "long shots on goal." Now I'm no sports junkie by any stretch, but apparently this means taking a chance and focusing your energy on getting things done, even if it requires a little faith and courage to get you there. And today, with a little assist from the FDA (like that, guys?), it seems the CFF and the entire CF/medical/research world scored a huge goal, touchdown, home run, or whatever the heck you call it when you strike a MAJOR point against a seemingly undefeatable opponent. Because as of today, January 31st, 2012, the FDA in the United States has officially approved the use of Kalydeco (aka VX-770) for the treatment of cystic fibrosis in patients with the G551D mutation.

Wowza.

If you don't know what Kalydeco is, let me explain briefly. This is a drug -- the first of its kind -- that actually targets and corrects the underlying defect that causes CF. Simply put from a non-scientist, it opens up a chloride channel that is typically blocked in CF patients with a specific mutation. Granted, not all CFers have this mutation. In fact, it represents only about 4% of our population. Which means, given that there are about 70,000 cases of CF worldwide, that this drug ONLY offers the opportunity to SAVE THE LIVES of about 2,800 people. It may work on others as well, but as of now it will ONLY allow 2,800 beautiful souls to grow up, live life, marry a loved one, start a family, have a career. It will ONLY save about 2,800 families and communities worldwide the pain of losing a child or a young adult. And this approval ONLY means that about 2,800 pairs of eyes, and the eyes of all their families, friends, and loved ones wept with joy this morning when the FDA made its announcement. Only that.

As for me, I don't have the G551D mutation. I know people who do, wonderful people whose lives have in some cases already been completely changed by this new development, but I also know a lot of people, like myself, who don't. It remains to be seen whether this drug alone or in combination with other medications might work even part of the miracle it promises for that 4% on other members of the CF community. Right now that question, like so many others in CF, remains unanswered. And while this drug represents the raw hope and truth that the CFF has now PROVEN that this disease can and WILL be conquered someday, it is fair to say that this morning's sweet announcement also carried with it the bitter reality that some of us, without question, will still die waiting for our chance.

So what does this mean for the rest of us, then? Because honestly folks, I've been there. When I was first referred for pre-transplant testing in 2008, this new class of drugs was really just a glimmer on the CF horizon. I remember so clearly the thoughts I had back then: that maybe if I could move somewhere with one of the study trials my lung function would miraculously make the leap and allow me to participate; that maybe if I could just hold out one more year we'd make it to a miracle and I could wiggle my way in on compassionate care or extended access; that maybe if we could just speed it up, even by a month or two, this would all be MY chance and I could stop watching from the sidelines and start living this wonderful new reality that seemed so darn close I could have reached out and touched it if I'd only been given the opportunity.

Yeah, I remember that.

Obviously, you guys know the way that story played out. I got tested, was eventually listed, and became one of the lucky ones fortunate enough to walk the precipice all the way to a double-lung transplant, at which point my life was saved by a completely different type of miracle. I was, and am, beyond blessed in this reality, but I have to admit that it didn't always feel that way to me in the moment. The simple truth is that it's hard when breakthroughs that represent so much hope and that deserve such intense celebration don't quite mean for you what they might mean for others. It's hard, as much as it is wonderful, to watch as other people receive a "cure" for your disease -- just as I can only imagine how hard it is for the parents or spouses of my friends who didn't make it to transplant to read this blog. In some ways, the bitter truth is that nothing hurts more than the miracle that comes too late.

I can honestly say for myself, though, that the only way out from the sidelines was to throw myself back into the game, and this time to try and be a stronger player than ever. What I realized through my transplant is that there are a multitude of ways to save a life, and it is always a team effort. There's nothing quite like being on a waiting list for lungs with some of your favorite people in the world, or knowing that in order for you to live another beautiful soul will have to leave this world, to make you think twice about what it means to take care of each other -- to have an assist when deep down you're also waiting for your own "long shot" at the goal, at glory, or even at life. And oddly enough, I know now that had I gotten my wish and had that chance at a miracle shot, I would most likely never have been healthy enough to fight as hard as I did for the goal we just made.

Which is why, when I heard about Kalydeco's approval, I cried too. I cried for my friends who have this mutation and what it might mean for their lives and their health. I cried for the many, many workers and volunteers and researchers whose efforts have made this possible. I cried, of course, for the families who will benefit, and especially for the younger generation who might never need to experience any of the flat-out bullshit that comes along with this disease. I cried for my fellow lung transplantees and the lungs or the lives that might have been saved. And I cried for all the amazing CFers and families out there who assisted in this shot, who are heroes -- every one of them -- in their own right, and who are still waiting for the moment when they, too, will get the chance to score. I cried, as it were, for all of my teammates, past and present and future, and for the knowledge that this goal represents a huge score (and a promise of victory) for each and every one of us.

Congratulations, teammates.

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.