Kalydeco

On January 31, 2012 there was a major announcement in the world of Cystic Fibrosis.  Nearly every news station had some report on this AP bulletin.  I thought I would take some time to explain this news.

Most likely you have seen or heard the recent announcement about the FDA approval of a new drug to treat Cystic Fibrosis called Kalydeco.  This drug is the first of its kind.  While it is NOT a cure, it does treat the underlying cause of Cystic Fibrosis.  Instead of treating symptoms, this drug can treat CF!  To break this down a bit further, there's a bit of biology involved.  Individuals with Cystic Fibrosis have either "missing or broken" CFTR (a protein in the body that regulates the flow of salt over the cell membranes).  As a result of the lack of CFTR, these individuals have high sweat chloride levels.  They also have thick and sticky mucus that clogs up many of the body's important systems.  The sweat chloride test is the ultimate diagnostic tool for Cystic Fibrosis.  Kalydeco is a drug that actually "fixes" the broken CFTR protein and has actually shown to reduce sweat chloride levels almost back to normal.  It is an amazing, fantastic drug!

One mom made a comparison that might help explain this a bit better.  This drug is like giving insulin to a diabetic.  While it does not cure the diabetes, it corrects the underlying problem.  This drug is our insulin--sort of.  You see, the underlying cause of Cystic Fibrosis (or the way the CFTR is broken or missing) varies from person to person based on their genetic mutations. There are currently over 1,900 known mutations.  Based on the body's reaction to the mutation, there are 6 classes of genetic mutations.  Currently, this drug is known to correct 1 mutation, not mutation class, but mutation.  That means that about 1,200 to 1,500 individuals will benefit from this drug.

Over the next few months, Kalydeco will be going into testing to see if it can have the same positive results for other mutations within the same class (which are the class 3 mutations).  While this is fantastic news, it does not directly benefit our family.  Finn's mutations are known to be more severe.  He has one class 2 mutation and one class 1 mutation.  (To see a bit more about his mutations, visit the corresponding page at the top of our blog.)  Currently in testing, Kalydeco is being used in conjunction with another trial drug to see if they can see improvements in Finn's class 2 mutation.  But those trials are still in earlier phases and it will still be several years before we see those results.

There are many mixed reactions out there to this news.  Of course, it is fantastic, but yet at the same time it evokes some jealousy and sadness that the good news is not for us.  What this does mean, though, is that the technology is there.  We can treat CF--not just the symptoms, the disease.  We just need time and money.  Right now, standing between us and a full, long life for Finn is time and money.  One mother wrote a fantastic post about her reaction to the news--it's a good read if you have time.  (In fact, this is one of my new favorite CF family blogs.  You should browse it sometime.  Her 85 year old grandmother has just been diagnosed with CF--yep, really, 85!  Told you it was worth reading.  As is this article about delayed CF.)  So, yes there are mixed emotions about this drug.  Hopefully, this is just the beginning of our family's miracle.

I share this with you as a way of spreading the information that we have.  Some of the news outlets have mistakenly interpreted this information to mean that there is a cure for CF.  There is NOT a cure!  And while this drug is revolutionary, it is only for a small portion of the CF population (3-4% is the current estimate).  That means that most of us are still waiting.  And while we wait, we will be fundraising and hoping that one day this news will be for us.  Know that the ongoing fundraising efforts by all in the community are very much real and very needed.  We can do this, but we need the money to keep on going.  We will be watching and waiting and when we get close to having that big breakthrough, I will let you know.  Until then, we will continue to fight!