Experiencing the Science as a Rare Disease Family

What I often refer to as ‘my previous life,’ the time before a life-changing diagnosis to someone I love with everything I have, I was a Life Science teacher to middle schoolers. And unbeknownst to me, those previous life experiences with some often very stinky jr high kids would benefit me now, in my current life, as a rare disease parent and advocate. 

I've always been drawn to learning, every aspect of it and not only do I love learning new things, I love helping others learn new things, and generally providing environments that foster it, hence my initial career path.

However, I do believe my love for learning helped me navigate the many complexities of a rare disease diagnosis. As I started to ask all the questions, search for all the answers and do my best to understand the science behind my son’s diagnosis, I found myself like many of my own past students (hopefully a little less stinky), needing more than textbooks and papers. 

I needed to see it, and experience it. 

So it was no surprise to me, after wandering my way into a research lab a few years ago,(and then another not long after that), how helpful it was in deepening my understanding and perspective of rare disease science and drug development. 

It was these valuable experiences, alongside the teacher in me, that then made me think; maybe I wasn’t the only one that could benefit from something like this. Maybe there were other students, parents out there like me that could really benefit from seeing the science, experiencing the science, not just reading about the science.

Thanks to the very willing and thoughtful staff at the Lek Lab, we were able, for a second year in a row, to provide other rare disease families the opportunity to deepen their knowledge about what it takes to develop a life-changing treatment for someone they love, by getting them in the lab. Giving them the opportunity to see and experience the science. 

This year families gathered from various parts of the country to learn more about drug development, and specifically about the work and science CRD is doing in partnership with the Lek Lab at Yale to bring change to the world of rare disease. While the kids played and enjoyed many scientific experiments and games of their own, their parents spent their time going from station to station from the lab. 

Various staff members of the Lek Lab lead 5 different stations and did their best to break down the very complicated work they do each day. From Whole Genome Sequencing, to creating cell lines, to Designing and Testing Therapeutics in Patient Cell Lines and Mouse Models to mouse models and muscle staining, the team at Yale gave families a hands-on experience to help them better understand the meticulous work and processes of drug development. 

And as beneficial as the learnings were, some may say the community aspect of the Lab Tour was equally important. Gathering together, connecting with others that just get it, that get what it’s like to love someone rare, and be doing everything they can do bring change, there is simply something special about not learning alone.  

I know myself, along with the entire Staff at CRD, is forever grateful for the time the Lek Lab scientists take out of their Saturday to provide families with such a unique experience. 

Cure Rare Disease was built on collaboration, and its days like Lab Tour days where that could not be more than apparent.