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.

Ask Not What a Cure Can Do For You

I like to come on here every once and a while and brag about my family. This is, of course, partly because my entire family is pretty much awesome, and I love them.

The other reason I like to brag, though, is a little more selfish. You see, I happen to have a family that is 100% committed to combating, controlling, and yes, to eventually curing cystic fibrosis. Not only do these wonderful folks donate money any time they can to this cause and support me through thick and thin with the disease, but they also serve as volunteers with the CFF, they get out and walk to raise awareness, they spread hope and prayers and love to just about everyone in their communities (but also to families dealing with CF), they serve on boards and chair committees, and perhaps most importantly: they continue to ask.

My father likes to say that "making the ask" is the most important part of curing this disease. Recently I heard him speak at the CFF's Greater New York Chapter Bi-Annual Scientific Update. This was a wonderful event put on by the amazing staff at the GNY Chapter to help answer questions about the sometimes crazy weird science that accompanies this disease we all consider to be a part of daily life. The program featured CFF Vice-President for Clinical Affairs, Dr. Bruce Marshall, and Emily Schaller (founder of the awesome Rock CF Foundation), both of whom gave testimony to the amazing new class of drugs out there that will treat the underlying defect of cystic fibrosis -- that amazing triple-punch combo of Ataluran (nonsense mutations), VX-770 (currently for G551D, though may have wider use), and VX-809 (DF508); and the new drugs like VX-661 that are just entering development.

These are awesome new drugs guys, and they work. We know that. We know that they do at least some of what they are supposed to do. We know that we are closer than ever to figuring how they work best, who they work for, and what might work better down the line. To that end, the CFF continues to do studies, pledge money, and move forward in solving this equation that we worked so hard to figure out in the first place.

I say "we" there because this really has been a collective effort. 56 years ago when a group of CF parents and loved ones came together to say they'd had enough of their children's fatal disease being ignored or unfunded, one might have said that it was them against the world. As recently as the early 1980s, the CFF had a working budget of about $1 million dollars to wipe out one of the most deadly and most common genetic illnesses in the US. The numbers have grown quite a bit since then (and, not coincidentally, so has the science and the treatments and the life expectancy), but one thing hasn't changed at all: this is still a community-based effort -- OUR effort, guys -- that relies 100% on donor funding.

So WE are super close, but WE'RE not really there yet. There's a lot of stuff to be done, including studies that take a lot of money and a lot of help. And that guys, is where WE get to come in again. Because something my dad said in his speech the other night really stuck with me, and I think it's worth sharing here:

"We are no longer looking to invent the lightbulb or to find the light at the end of the tunnel. We've done that. All we need now is money to fuel our lamp. And we have to realize that in our future either one of two things is going to happen:

Either we will have to end each day knowing that someone out there is saying goodnight and goodbye to a child, a sibling, a loved one, or a friend with this disease;

Or together, WE can say goodnight, goodbye, and GOOD RIDDANCE to cystic fibrosis."

I think right then was the moment I decided to stop asking what a cure could do for me. Instead, to paraphrase our late President John F. Kennedy, I think it's time we start seriously asking ourselves what WE can do for a cure. And hey, while you're asking yourself, why not ask a couple of friends as well? And why not ask them to ask a couple of others? Because I'm pretty sure most of you guys out there have friends and loved ones, and I'm pretty sure most of them do too. And I'm sure you get where I'm going with this, because while no gift is ever too small to accept, it is equally true that no gift should ever be big enough to make us stop asking until this disease is cured.

So what I'm asking you guys to do is this:

Get involved in your own health and your own cure. Different people are going to do this in different ways, obviously, but I think the main message is that we should not wait to see what other people, other groups, and other treatments are going to do for us. WE need to be the ones out there spreading this awareness. WE need to take the information about our disease to the next level if it's not good enough yet (and here's a hint, it's not). WE need to seek out and participate in these studies as much as possible. WE need to keep on it and get out there. WE need to give whatever we can in the form of time, energy, money, space, whatever to get this job done. There's no one specific action that I'm asking you guys to take here. I know circumstances vary. But I am asking -- pleading, beseeching, begging -- that each and every one of you take a second (or maybe even a blog?) and try to figure out a way that you personally can be more involved in your own community and in the fight(s) for the cause(s) you believe in.

Because WE as CFers, as people, as a world, simply cannot wait for the cures that will save us.

WE have to be them.

Chaos Theory

If you had asked me when I was ten years old where I would end up at almost 30 and what I would be doing, I probably would not have guessed correctly. And no, I don't just mean the fact that I am awake in the pre-dawn hours of a West Village morning thanks to a surprisingly effective combo of insomnia and noise from the nearby bar, though I probably wouldn't have seen that one coming either. What I do mean is that I probably wouldn't have counted on living in New York City, at sitting here late at night with my adult thoughts and a really cute little mutt curled up by my feet and another beautiful soul's former lungs in my body.

You know, all the normal stuff like that.

My family spent almost every Thanksgiving holiday when I was growing up on a special vacation to New York City. We would stay in the same apartment on the Upper East Side, eat Thanksgiving dinner at the Waldorf Astoria, and see a ton of family-friendly Broadway musicals (Cats! Phantom! Les Mis! Cats again!). We would wander through the streets and look at the windows in Saks and the lights on 5th Avenue and we would brave the 6am cold to get awesome "seats" in the front row of a New York sidewalk curb for the Macy's Thanksgiving Day Parade. We would eat hot dogs and bagels, we would ride carriages in Central Park, and we would all smile through the bitter cold, because I'm here to say right now that anyone who ever tells you that Colorado is a cold state has never, ever lived in the northeast. And, of course, we would always make our way eventually into the hallowed halls of FAO Schwartz toy store, which as far as I could see was pretty much heaven -- from the huge stuffed animal section right down to the never-ending musical strains of the store's theme song: "Welcome to our world of toys!"

Heaven, no joke.

What was NOT heaven, however, was the sheer size and chaos of the city itself, or at least not from my slightly limited perspective. My Colorado mountain girl self thought the Big Apple was pretty much the definition of scary from day one. Case in point, I kept the apartment's address written on a business card and firmly shoved in my pocket with a ten dollar bill as insurance against the terrifying fate of being alone in this super crowded place with the crazy yellow cars and the buildings that seemed to me just as high as the peaks that surrounded my hometown. I always loved the lights and the colors and the food and the musicals; I just wasn't sure about the, well, about the flat-out extremeness of the place, to be honest. I may have been a child with a whole lot of spirit according to my report cards (I always took it as a compliment), but I was also a fan of at least some sort of security and routine.

(And as an aside here, my wonderful sister attempted to solve this problem by telling me I had a special pigeon who followed me in every major city to make sure I was okay. If pushed, she would acknowledge that this particular pigeon was recognizable by its distinctive grey body and somewhat iridescent green markings, and the fact that it had wings and was always the pigeon closest to me, obviously. I was 100% convinced she was telling the truth.)

Fast forward give or take 22 years. I live in New York, more or less alone (sorry, Sampson), and I am happy. I am happy to be here. I am happy and proud to call such a chaotic mass of stunning humanity my home. And I am happy beyond all reason when I am walking the streets of this wonderful place. Particularly alone. Particularly when it's most alive all around me. Particularly, oddly enough, when it is at its most overwhelming and, yes, even a little bit scary.

Of course, when I say that I am happy, I don't mean that my life here is totally free from worry or stress. I don't mean an existence without problems, or without concerns, or without anxiety. I don't mean that it's always easy to live in this place that I've come to love for its complexity with this body that I've learned to adore for the exact same reason. I don't mean happy in the way I might mean it, for example, if we could suddenly imagine a life or a world without things like cystic fibrosis or pain or fear or any of the other things that threaten to hold us back on a daily basis. In fact, just thinking about that sort of stuff can sometimes threaten to send me off in a tailspin, whirling my way straight back to that somewhat timid little girl with the address in her pocket. Because the craziness and the uncertainty are all still out there, right? They never really go away, I guess. Not for me, and probably not for any of us, if we're really being honest.

And yet I will say it again: I am, in fact, happy. Like, really happy even. I am the kind of happy that comes from having at least one moment every single day of raw, unadulterated joy. I am skip down the street like a 5-year-old kind of happy. Dance with the dog in the living room to Belle and Sebastian kind of happy. Laugh at absolutely nothing just because the whole wide world seems funny kind of happy. Oh, yeah, and "take-all-my-meds-and-go-to-all-my-appointments-or-blood-draws-or-whatever-and-smile-because-when-all-this-is-over-I'm-going-to-be-walking-back-out-into-the-best-most-crazy-beautiful-amazing-existence-any-girl-could-ever-ask-for" kind of happy.

Yep, that kind.

The difference now, I guess, is that even though my life might still be a whirling, chaotic, overcrowded ride sometimes, I think I'm coming to a point where I can not just accept that movement, but maybe even learn to embrace it. I think at some point in my life with CF I came to realize that nothing is ever guaranteed, but that the fact of the matter is that even the stomach-dropping sense of being off balance every once and a while can ultimately make me a lot more steady on my own two feet. And even if the prospect of being alone in a strange city, in an even stranger body, with a stranger's lungs and a crazy, beautiful, strange world out there all around me might sometimes be the most terrifying prospect imaginable, it is also, sometimes, the greatest blessing I could ever imagine. It's the sort of realization that can bring me back to myself amongst the madness, and back to the beauty that seems to go hand-in-hand with an existence that is, in many ways, well beyond my (or any of our) control -- and that is undeniably worth it, in every sense.

Or maybe it's that very chaos itself that makes this once so-very-scary destination also the place where I now feel the most at home.