Saturday, April 25, 2015


I guess this journey begins a few months ago, when the fda approved the "miracle" CF drug Kalydeco for people ages 6 and above with the R117H mutation, which is one of Lex's mutations.  Kalydeco is the first drug to target the underlying cause of CF.  This medication, in the first group of people with CF who were able to take it, was having amazing effects.  Reversing lung damage, increasing lung function to unheard of numbers, making infections and hospitalizations practically nonexistent, etc. etc.  I found from talking in internet groups with people involved in the trials, that the trials with R117H were not quite as miraculous, but still amazing.  I also found out that they were working on a version, granules, for children ages 2-5.

About a month ago, this granule version was approved by the fda.  I immediately called his team at the CF clinic and asked how we get him started.  They said that this was all very new to them too, and they needed to do their own research, and we would talk about it at his next clinic appointment.

That appointment was Thursday.  It was an incredibly long and draining, but ultimately great appointment.  The doctors, of course, made sure to tell us all the things we already knew about Kalydeco.  Possible side effects, what to expect, and how we would go about getting this $600,000/year medication.  We knew that Lex would have to consume 15-20 grams of fat with each dose for the medicine to work (this involved a lengthy talk with the dietitian due to Lex's eating issues).  We knew to expect a fight from the insurance company, and that Vertex (the company that makes Kalydeco) will provide an advocate to deal with the insurance company for us.  We knew there were some tests that would have to be done to get baseline data and some tests that would have to be performed regularly to monitor for certain possible side effects.

So, the unpleasant part of the appointment was that we had to do some of these tests, which meant painful procedures like blood draws and Lex's most dreaded throat culture.  Of course, it is without any argument that the benefits of Kalydeco will greatly outweigh these things.  His labs all came back good, and his ophthalmology appointment is next week.  Once we have the all clear there, he will be okayed to start taking Kalydeco whenever it gets approved by the insurance.  No idea how long that may take, as Lex is only one of 2 kiddos at Nationwide Children's Cf clinic who is able to take this drug.

The appointment Thursday was eventful in several other ways as well.  Due to his slowly increasing repertoire of foods he will eat (thanks to some ABA strategies we have learned since his Autism diagnosis), he is exactly at his goal of 50th percentile for BMI.  This is fantastic news, as weight gain has been one of our biggest struggles.

We also discussed how we are going to handle pft's (pulmonary function test), as he is getting too big for the "infant" pft machine, yet still a bit young for the whole "blow as hard as you can into the machine" kind (and we suspected this would be a greater challenge due to his Autism as well).  It was decided that since we are going to have to put him under for chest and sinus CTs, we will also do the "infant" pft one last time, but also take him to the "blow as hard as you can" machine to practice and get him used to the equipment.  He was not afraid of the equipment at all (which was a huge surprise because even the harmless pulse oximeter freaks him out a little).  With several favorite doctors, nurses and respiratory therapists watching from the hallway, he tried a few times and then blew the thing away to cheers from his audience!

So, Thursday was a long, tiring, at times extremely unpleasant, but ultimately very positive clinic appointment.  And now we wait for Kalydeco to show up on our doorstep.