Tuesday, August 27, 2013

It’s happening!

Kalydeco. It’s happening for Gavin.

When Gavin was first diagnosed shortly after birth through the newborn screening test, we heard about Kalydeco (then known as VX-770) at one of his first appointments. We really didn’t  understand much about it at that time other than he had the “right mutation” (G551d) and that he might be able to get on the  medication by high school.

A few months later we were told – he might be able to get on the medication by middle school.

Which then became elementary school. And then WHAM. The results were far better than anyone could have ever imagined and after the studies were completed it was crazy fast tracked by the FDA and it looked like he’d be on it by preschool.

On January 31st, 2012 the FDA approved Kalydeco (you may see it called ivacaftor) for all CF patients with the G551d mutation aged six and older. At this time, Gavin was just a couple weeks away from turning three.

We knew that it would be awhile for the medication to get started in pediatric trials (ages 2-5) but had no idea it would be until August 2013! Yet, we are ever so thankful that it is available and Gavin is one of the rare few that are able to use the drug. Thankfully, because the medication is already approved by the FDA, the study would not have any placebos – but patients are still unaware of which dosage they are taking.

One of the delays was that the lab rats started to develop cataracts (still uncertain if this will also happen in humans). This became apparent after the medication was approved for those over six, but weighed heavily on the start dates of the pediatric trials. And then came the issue of, “who pays for the cataract issues if they do develop?” Of course no one wanted the responsibility. That is what kept our clinic out of the Part A section of the study – needless to say, I wasn’t thrilled that those “politics” were keeping my child off this potentially life saving medication and made my point clear to the clinic/research team.

After several potential start dates that kept falling through, we were told in July of this year that they’d start enrolling in August. Only one spot in our HUGE clinic was available and GAVIN GOT IN!

Yesterday morning, Gavin and I got up around 5:30 am and headed up to Amplatz Children's Hospital to begin his evaluation for the study – just to make sure he was “healthy” enough to participate.

I could not believe how well he behaved. Not only was he amazing at last week’s regular quarterly check up with his pulmonologist – yesterday he was happy, carefree and more than willing to do whatever the research team asked!

He got his vitals checked, followed by an EKG to make sure that ticker is working well.


He has had a slight murmur since birth, something both his pulm. and pediatrician said isn’t anything to worry about – but of course showed up on the EKG. It doesn’t exclude him from the study, but they want him to meet with a cardiologist at his next appointment in September and possibly needs an ECHO, will update on that when I know more. Nothing needed to “fix,” they just are covering all their bases – as many of you know, every t has to be crossed when participating in a research study, especially one this big!

A lot of the day was waiting. Waiting for this doctor. Waiting for this test etc. And the research coordinators kept complimenting him on his amazing behavior!

Following the EKG, we went to get his blood drawn. He whimpered – but only for a moment. THANK GOODNESS for that numbing cream! It sure is a life saver! He completed a urine sample and then had a sweat test done. Gavin last had a sweat test completed when he was an infant (just a few weeks old) – it is a diagnostic tool for CF.


To make a long story short, a chemical is placed on a small patch of skin which “forces” the skin to sweat. After a half hour that sweat is measured – and the results indicate whether or not that person has the disease. A high number (over 50/60) indicates CF, but the number does not indicate the severity of the disease. Many adults on Kalydeco have seen a HUGE drop in their sweat test numbers, some even into the normal range! Basically, it shows that the body is able to function more normally, producing more normal results.

In the midst of all of this, a pulmonologist from our clinic that is running the study stopped by to do a quick evaluation. I’m sure the poor man thinks I’m a crazy mom – I had never met him in person before, he only “knows” me as the incredibly angry mom that want on several email rants when our clinic didn’t get into Part A of the study. (Hey, when you’re at one of the best clinics in the world you expect only the best care – and when that’s not there mama bear comes out to play!). But nonetheless he was extremely friendly and great with Gavin – so even if he thinks I’m nuts at least he’s great with my child! That’s all I ask for!

Finally, we headed across the street from the hospital to the ophthalmologist. Because those darn lab rats began to develop cataracts, part of the study now includes extensive eye exams. This doc had to go through special training just for this one study, so we are eternally grateful for her willingness to help! She was FANTASTIC. (If anyone in MN is in need of an ophthalmologist for their child, I am more than happy to pass on her name!) He went through an array of tests – and his only complaint of the entire day was the eye drops causing his eyes to dilate.


I think that Gavin will talk about this part of the study for a long time. They were a fantastic crew and they actually made the eye exam fun for him.

And I couldn’t be more thankful than the two study coordinators that trooped through this nearly six hour day. They were so sweet with my son, and so unbelievably friendly. Just when I think I couldn’t love our clinic more, I meet even more of the team and become more and more impressed!

At the end of it all, Gavin and I stopped at Perkins for pancakes to celebrate a job well done. I asked what the worst part of the day was. Two things (1) the eye drops (2) his own pulmonologist wasn’t there. I mean seriously?!? What kid gets bummed about not seeing their doctor, we are so blessed to have her!

I am not allowed to publicly reveal any results of the study – but I am able to let close friends/family know. Basically – they don’t want anyone going on social media blaring the results before they are analyzed and published. But if you really want to know, you can message me personally and I can let you know how things progress.

All in all, it was a long but successful day! Just a couple more weeks until his first dose!