How Did This Trial Opportunity Come About?

The development of Kalydeco is exciting in and of itself, the trial is exciting in and of itself, but I think that how I came to be IN the trial deserves explanation because, to me, it is one of the most exciting parts of this. The number of events aligning, the timing, the way it’s all worked out so effortlessly….call it coincidence, call it the stars in the galaxy aligning, call it luck, but I feel this development in my life has God’s imprint on it.

The Events:
One day long long ago…ok not so long ago, about 6 years ago to be precise. I had given birth to Lillian a few weeks prior and  started to feel that it was my responsibility as a mother to do more, to educate myself, to be healthier, to be pro-active. I felt, and still do, that I owed it to my child, now children, as well as my husband to be around for as long as possible. My first step in this process started via the internet, after a middle of the night nursing I wasn’t feeling so hot, I was doing a nebulizer treatment and started browsing the internet, I noticed that there was a whole community of CF people online chatting, trading notes, ideas, and  a large subset of them were challenging one another to be more compliant, pro-active, and healthy.

I listed my mutations and some basic ‘stats’ of CF on my profile on the forum I frequented. Since one of my mutations is exceedingly rare and the only thing I could find on it was that it had a ‘dominant mild effect’ I thought perhaps someone would see it someday that also had the same mutation or that knew something about it. I had been on the CF forums for a couple years when I met someone else with that mutation, first it was me helping them with a new diagnosis but soon this phenomenal person was raising loads of awareness and research and even helping to steer research!

Now fast forward to Nov2012 when I get a call from this person who has wonderful news, he shares research with me that I was not aware of showing that the break through drug Kalydeco has been shown in the lab studies to be effective to treat P67L and there is a P67L'er out there taking the drug off label and guess what...?....amazing results! They were now answering the questions for me, inspiring me! I decided to call my doctor armed with the research and try to get a prescription written and then cross my fingers hoping insurance would cover it. 

For those of you not familiar Kalydeco, while miraculous is they FIRST drug targeted to treat a specific genetic mutation so currently Kalydeco is only FDA approved for people with G551D mutation. “Off label” means using a drug to treat something other than what it’s indicated for so for instance if they develop a medication to lower blood pressure and then realize that it also works really well for helping people loose weight than if a doctor is prescribing it to help you lose weight they are prescribing this “off label” because that is not what the approved label indicates it is to be used for. Normally off label isn’t as big of a deal but when you have a price tag of $30,000 per MONTH and a whole LOT of people with CF wanting to try it then it becomes a HUGE deal. Right now physicians have been instructed not to prescribe off label#period, some are to a select few but most are not.

I called my doctor who is also the head of the clinic, I explained that I was not just requesting it because I, like everyone else, wanted to give it a try, I wanted it because A-I had the research to show it was effective in the lab and B-my mutation is so rare noone was ever going to study it, you can’t possibly get around a study group large enough when there is estimated to only be 200 people worldwide. We talked, he said he would think about it but he had to also think about the practice and whether it would bring backlash against the practice for not following the guidelines set out by the CF foundation, he also had already turned a huge number of requests down but he did agree with me that my rational was sound and it probably WOULD be an effective drug for me but he needed some time. I agreed and asked him to call me by the end of the next week (impatient? yes demanding?yes. If you know me....that's me - to a T…when I want something I’m not taking NO easily).

The next week I hadn’t heard from him so I called him, he said he needed more time but was working on. While not pleased I agreed to wait to hear from him the next week. Next week came and I was beginning to feel for sure it was going to be a NO, lo and behold I did receive a call from him, THREE times in one day, we were playing phone tag and my phone was getting horrible reception so I kept missing him, finally at the end of the day I heard from him. He had some information for me about what he had been looking into and he had a proposal. Hhmmm, interest piqued-cool. 

One of the partners at the practice, the doctor I normally see, presented my type of scenario as a question on the best thing to do at a national thoracic conference – cool. The general consensus was that they shouldn't be prescribing based on who they felt the drug was going to work for and that they were all ea backlash when insurances started denying claims and/or requesting to see proof of G551D genetic mutation-not cool.

He did find out however that there was a study happening in denver Colorado at National Jewish that included my mutation. Now, to be 100% honest I knew about this, I chose not to forward the information on to him because I thought the trial was supposed to just be for people in Denver (my understanding is that it originally was) and B- I wanted the drug I figured it would take forever for anything to happen and assumed I couldnt' get in the trial anyway. He went on to explain the basics of what the trial actually was, what it was doing, what it would be like, and that he had already talked to Denver and they were not only willing to consider accepting me but had just had a meeting the week prior trying to figure out HOW to find a patient just like me J…goosebumps much? The timing on how this whole thing worked out is crazy awesome.

So since it was after close business on Friday I did what any rational….err impatient and excited person would do, I sent an email to the address my doctor had given me with all my basic information and a request for a phone call. Monday morning I called the numbers I had been given at 9:30 (I didn’t want to seem TOO impatient ha ha ha); what I didn’t realize is that one of the numbers I called was the nurses cell phone and it was only 7:30 in denver…oops. I submitted my information, signed a form to release my information, and had my local CF clinic send everything over.

I got an email back from the nurse just a few days after I sent my information, it seemed so easy they wanted to set the times up and everything, I just didn’t believe it so I called them to ask what was going to disqualify me, what the catch was, etc. It seems that the research center was just as eager to have me as I was to have the opportunity. In a funny twist the nurse that emailed and called me has the same name as the person who offered me (and I accepted) a position at my company job just 15 minutes prior........accepting a new position and then ‘breaking’ the news that you were going to be flying out to Denver 1-2X/month was a whole other can of worms! Again I am so thankful to have supportive people, flexibility, and great benefits as none of this would be feasible to do without it.