July 22, 2013

A looming catch-22

I've been thinking lately about Vertex Pharmaceuticals.  They've done such a great job so far creating CFTR correctors.  There's now a drug that for 4% of CF patients is one step away from a cure.  It actually restores the function of the faulty CFTR protein in these patients.  And the reported results have been, for the most part, amazing.  Lung function declines have stopped and in some patients function has improved.  Digestion has improved.  Little.  Blue.  Awesome.

There are trials right now testing a combination of Vertex drugs to see if the CFTR can be corrected well enough in people with my mutation: two copies of delta-f508.  

But I see a problem on the horizon; and it's a problem only for a very select few patients, the ones in the same boat as me:  listed for transplant.

 I am actually worried that a Vertex product will be approved for double-f508d before I get my transplant. Why?  Well, what if my doctor prescribes it? If I don't take it, I'm labeled non-compliant and kicked off the tx list and I die.  If I do take it, and my lung function stops dropping or even improves slightly, then I'm stuck in a just-shy-of-transplant hell.  Again, possibly dropped off the list if my O2 use lowers and FEV1 stays above 25%.  (To be sure, I'm not convinced that's even possible.  I think the physical damage is done, regardless of any PFT improvement brought about by clearing out all the mucous.)  And even if I stay on the list, tethered to an oxygen source 24/7, yet able to nominally function, my Lung Allocation Score won't be rising.  It'll be stuck where it is.  And thus there will be an endless stream of PF and sarcoidosis (and etc) patients getting sicker than I -- I'll never reach the top of the list.  I'll never be transplanted.

I am horrified when I contemplate the catch-22 that could land me squarely in a living hell. And in all of human history, this can happen ONLY AT THIS POINT IN TIME. FML.