04 June 2012

The Sound of Helicopter Blades Coming Back?

Could this really be the sound of helicopter blades coming back?
I've shrugged it off a few times.

"It's probably just a train."
"It's nothing."
"Just a bunch of noise."

My heart has not wanted to make any sense of the stirring happening around me.

It wasn't until recently when my friend and fellow CF Mom (who lives states away from me) figuratively grabbed me by the collar, looked me in the eyeballs and said "Seriously! Pay attention to this noise!" that I finally began to listen.

A while back, this mom told me about a blog about a young woman with CF who had been able to get the new "game-changer" CF medication Kalydeco off-label.

("Off-label" means using a medication even when it has not been formally approved for use by the FDA for this situation.  In Bennett's case, the FDA has not approved Kalydeco for his mutation.  But if the doctor believes it will help him, even though it has not been FDA approved for his specific mutation, it can be prescribed.  It's just considered "off-label".)

I'm the type of person that hates to be disappointed.  So I didn't pay much attention to this young woman's experience at first, despite that she (and apparently two other people with Bennett's mutation) experienced a 10-15% improvement in their FEV1 (a lung function test) while on Kalydeco.   

But, then, months later, this mom contacts me again to tell me her daughter was also able to get Kalydeco off-label for one month.  Her daughter, who has the same genetic mutations as Bennett and used Kalydeco for a month saw her lung function improve from 46%-57% in 28 days (the highest she had seen in three years) and her sweat chloride dropped by 30 points, from 107-79.

When I spoke with one of our CF doctors at our clinic about it, the doctor mentioned she had heard of another story of someone in our clinic who was able to get Kalydeco off label and benefit.  Our doctor mentioned that she doesn't know why or how this medicine is working for those with Bennett's mutations as it's not supposed to but that even she doesn't know exactly how the medication works.

And that's when I said, "Holy cow.  I'm ready to believe it."

The reality is we don't know yet know exactly who will benefit from Kalydeco.  All we know right now is G551D patients do - because that's the only trial that's been done.  But that doesn't mean that others won't.  In fact, doctors have been looking for others with similar gating mutations and contacting them about the possibility that they may qualify.

So, if this was the sound of helicopter blades, the sound of the helicopters coming back for the rest of us, what does this mean??  What should I be doing to prepare, to be ready??

Here's where my attention has gone next:
1.) I am learning all I can about my son's genetic mutations and staying on top of the latest research about his mutation.  I am becoming knowledgeable in my son's mutation class and how his specific mutations are classified.  

A few ways I am doing that is through:
* Downloading the free Cystic Fibrosis Vertex App
* Reading about his mutations on
* Arranging a Google Alert for each specific mutation.
* Joining several Facebook groups online (such as "Waiting on VX-809 or 661")

2.) I am trying to stay in touch with other families with his mutations.  Personally, I have done this by created a Facebook group and blog for Bennett's mutation.

3.) I am watching carefully for trials involving my child's mutation, particularly if we can participate in them.  The websites I use are and

4.) I am working with our Cystic Fibrosis doctor to do any baseline testing should a trial open or a new medication become available to us. 
5.) I am making efforts to keep Bennett as healthy as possible for the day when a medication that can help is within reach.

I firmly believe that it is no longer "if" the helicopters are coming back but "when."  Maybe this is the sound of the blades coming back?  I'm trying to position ourselves ready to jump aboard the minute they get close!!


  1. I just asked to join the group you created on fb - I'm not comfortable stating my name here in public and couldn't find a way to send a message on fb, but i definitely have the same genes and am sooo interested in finding information showing that kalydeco could help my mutations, as I've asked my doctor already and he's refused.

  2. Are we candidates for being members of your facebook group? Sara's mutation is DDF508


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