March 2, 2011


It feels like forever since my first CF related post even though it's only been about three years.  I dunno anymore, is three years a lot?  A little?  Just enough?  I guess I've quieted some because we're still sailing far enough ahead of the brewing storm.  If Charlie and Lola are good, I'm good.  And lucky for us, they've been doing really, really well for a long time.  I was telling my amiga Susie that when it comes to CF, I tend to go in cycles.  I'm cool until about 2-3 weeks before our quarterly clinic visit and then I morph into Sybil.  I just bitch-out if that's even a term.  Every little thing sets me off.  Everything.

And it's all because I've got that leech called cystic fibrosis waiting to suck me dry at every turn.

Well, last week, something big happened.  I'm talking big as in The New York Times big.  It's taken me a full week to even get my brain around it let alone be able to rattle it off on the keyboard.  So here's the 411 after a week's worth of marination in the void that occupies the space once reserved for my brain:

There's a wonder drug out there called VX770.  I wrote about it once here but as quick as it posted to my feed I let go of it; let it fade back into white noise, just another prelude to a dream.  Well, last week this same wonder drug made front page of the Foundation's website.  Did you hear about the earthquake in Arkansas this week?  Yeah, well the press release for VX770 is like an 8.0 on my Richter scale.  I shit you not.  You see, this drug is now in Phase III, the final phase, of clinical trials.  You have no idea how tough it is to get a drug to this point.  I've often wondered if winning the lottery would be easier because for all the drugs that make it into the drug pipeline in the first place, it's very few that make it to market.  Very, very few.

So last week's news from the CFF that they were planning to apply for FDA approval of VX770 sent shockwaves through the CF community.  I was actually sitting in my first block class when I read the release.  At first I just sat there, staring at the monitor not believing what I was reading. 

"Patients who took the drug, compared to those on placebo, showed a marked improvement in lung function at 24 weeks, which was sustained for the duration of the 48-week trial."

"Patients also showed improvement across all key secondary endpoints in the study, including reduced likelihood of experiencing a pulmonary exacerbation, decreased respiratory symptoms and improved weight gain. Each of these areas is critically important to the health of people with CF."

"In addition, average sweat chloride levels of patients on VX-770 dropped toward normal levels, while those on placebo did not change — indicating the drug is impacting the underlying defect in CF. Excessive sweat chloride (salt) is a key clinical indicator of CF."
OH.  MY.  GOD.

I jumped up from my stool and clapped my hands together half a dozen times and just kept repeating, "YESSSS! YESSSSSSS!" over and over and over again. And then the tears came and I had to pace around the classroom fanning my eyes so my mascara wouldn't start running down my cheeks. My poor students, bearing witness to the freak who was their teacher.

But here's the catch. 

The VX770 will NOT help Charlie and Lola.  They don't carry the same mutations that this drug is targeted for.  It will instead help just 4% of the CF population.  What's 4% of 30,000?  Anyone got a calculator?  Like 1,200 people?  Hell, let's talk globally.  Let's take 4% of 70,000.  What's that make...2800 and thensome?  I know what you're thinking.  Yeah, she's totally lost it.  Crapping her pants for a drug that's gonna help 1,200 maybe close to 3,000 but not her own kids?  What a dreamer.  No, strike that.  What a moron.

Well hold on.  I'm not done. 

You see, there's another drug by the same company - the VX809 - and they're working on the theory that giving the VX809 along with the VX770 will help CFers who carry at least one copy of the most common CF mutation (the Delta F508).  In essence not one but two silver bullets.

Why hello there Mr.  VX770, I'd like to introduce you to my fucking amazing children, Charlie and Lola.  No, we didn't name them from that stupid cartoon from Disney Channel.  They're nothing at all like that cartoon.  They are two beautiful, wonderfully chatty, hilariously stubborn, lovey-dovey,in your face kids who happen to have CF.  And they also happen to have
a copy of that nasty Delta F508 gene that you're gonna fix.  Got it?  Good.  Oh and by the way, would you mind terribly passing this on to your pal, Mr. 809?  Thanks!

The VX809 is still in Phase II, so it's a little bit farther back in the drug pipeline but so far, things are looking good, very good.  Still, there's a catch:  getting a drug all the way through these trials not only takes good science but Megabucks.  I'm talking gazillions of dollars.  The US Government does not fund fund these clinical trials.  They are funded through donations.  The gala dinners, the WineOpeners, the charity golf outtings, the foot races, the walks...all the way down to the bake offs and can collecting.  In short, all of those fantastic donations.  That's what funds this research.

So I can't be all polite anymore and ask you to consider making a donation.  Now I'm knees to the floor begging you:  Help me Help the Foundation Help us.

And here's how:

  1. Go HERE and click Join My Team.  This will register you as a walker on our family's team.
  2. Once you register as a team member, you be given a login and password.  Please use it to make your own fundraising homepage 
  3. Wanna really be a hero?  Go to, click on the Great Strides logo and create your own  Charlie & Lola Team and recruit walkers under you.
  4. Last but not least, if you haven't yet made a donation, please, please, please make one by clicking HERE.  Anything you can afford, I mean ANYTHING, would just mean the world to me, to us.  
Yesterday, as I was packing a box of dishes, Charlie came up and kneeled beside me.  "Mama, how much longer do I have to do treatments?"  God, what I wouldn't have given to have been able to tell him the answer he was fishing for.  It took everything I had not to snap that dinner plate in two, I swear.  When your child comes to you with hope in his eyes and you have to be the voice of reason, of right, of truth...well, it just so totally sucks.  

So until then, until the press release that makes me own up to No. 15 of my Bucket List, I just have to stick with, "...until we've got the cure, Charlie.  Until we've got the cure."


  1. I saw you had posted this earlier but didn't want to read it until I finished mine only had a little bit of editing to do on it (ended up posting them at similar times after all).

    Anyways, brilliant post and take on things, mine is just going to confuse everyone, very science(y)!! lol.

    Your kids are gorgeous btw(I'm still trying to catch up on all of your blog and it's taking a while!).

    I actually think I reacted in a similar way to the news as you did (soph has one DF508 mutation too).

    ps I'd love for you to explain your kids mutations to me one day if you wouldn't mind, do they all function and interact or are some benign?

    Take care xxx

  2. Gemma

    Delta F 508 from yours truly sits comfortably on one gene.

    These 3 ride together - 3 peas in a pod if you will, on the other gene.

    I want to read your post about the differing classes of mutations!

  3. I don't have one?? (confused)

    However I have been trying to research the triple combo for you and have hit a brick wall in terms of mutation class.

    I used to have a table with a list of mutations and their classes but I cant find it. The best thing I can suggest is go here and I think you can email the people and ask them.

    It is on there somewhere but if memory serves, you have to find the correct protein name and then find which alelle and then select an exon or something to work it out!! (my brain cant cope). I'm sure they could email you some info as they were the ones who cracked the code in the first place.

    I will keep digging for you and if I find out i'll let you know ASAP.

    Sorry I cant be any more help!


  4. WOW. Not sure what else to say. But that news at least deserves a big WOW.

  5. That's where I was last week, Rea. I mean totally and completely dumbfounded. Still am to some degree...