Monday was a holiday, so we’re talking about my Tuesday morning thoughts…

Global Genes 

I was in California for the past week, which you’ll hopefully see as my reason for not blogging much. We’re a small time operation here. I can only do so much at once!

I had the chance to join the Global Genes RARE Patient Advocacy Summit, which was a meeting of advocates (some of them patients like me!) from all over the rare disease community. It was full of a number of informative talks ranging from setting up a non-profit, to developing a patient registry in an illness community. From the outside looking in, the “rare disease” community is where we were with cystic fibrosis 20-25 years ago. Many of these groups don’t have specific medications and are kind of just getting off the ground…BUT that’s why they have these conferences.

Cystic fibrosis is very much an outlier in the world of medicine. We’ve had THREE disease-specific medications go from the test tube to the patient in the past few years. That’s unheard of in healthcare. If anything, I hope that our experience and success in creating change community-wide is something that inspires the rare disease world.

I had the chance to speak on the main stage with Mike Porath, the CEO of The Mighty. We spoke about the importance of sharing stories within the chronic illness community and how we can use each other’s experiences to help guide us through our own lives. My favorite part of the session, though, was recognizing my “CF mentor,” Amy before hundreds of rare disease community leaders.

(You probably know who Amy is if you’ve been reading her Drug Development Wednesday posts).

Behind the scenes, I had been conspiring with Mike and Global Genes to recognize my friend Amy. Amy has done so, so much for me over the past 10 years we’ve known each other. She’s the person that I have gone to (and will continue to go to) with questions about CF care and community needs.

You can take a minute to read about the moment in my Instagram post below!

The Vertex Labs

The Vertex building (which actually looks like a set of lungs!) in San Diego is the most amazing place on Earth – it’s where the magic happens. It’s where the people (a hell of a lot smarter than me) discover the compounds that create Kalydeco, Orkambi, Symdeko and whatever else hopefully comes next.

I talk a lot of about drug development and bringing medications from the test tube to the patient, but prior to last Thursday, I had never actually seen what the process looks like outside of a clinical drug study.

Let me tell you… It is impressive.

You know the feeling when you walk through your grandparents house and your parents tell you not to touch anything? That’s basically what it was like to walk though the lab. Just about everything in there looked like it would break into a million pieces even if the slightest breeze passed through the place.

In fact I actually broke down in tears just talking to a number of the scientists because I was finally looking at everything that we have done for the past 25 years. The experience at Vertex served not only as some validation for the years of blood, sweat and tears, but also as a motivator to keep pushing forward – to keep pushing until we have effective life changing medications for everyone living with cystic fibrosis.

…and that’s what I’m think about this morning.