Cure Rare Disease Lab Tour Day

Cure Rare Disease invited patients and families to join in a day of fun and scientific learning at one of our collaborators’ research labs, Yale University School of Medicine. Patients and their families had the opportunity to tour the lab and meet the researchers behind CRD’s work to develop therapeutics for rare and ultra-rare genetic diseases.

CRD’s lab tour had families explore six different stations around the lab. The goal of these stations was to help familiarize families with the work & science being done in the lab, while also familiarizing them with the people in the lab who are doing the research. Our overall goal for the day was to create a fun day for families and researchers to come together, get to know each other and simply enjoy the community that shares one common goal, to develop CRISPR-based treatments for Duchenne.

Oftentimes I feel as if “science” and “labs” are these far off imaginary ideas and places that have a sense of magic to them, but very little tangibility. When I hear work is being done for Duchenne at a particular lab, it can be hard to conceptualize what that actually means. What does research and development look like? Is it all smoke and beakers? Who are these scientists and do they have hair like einstein? What brought them to this lab, who are they as people, and how did they find themselves in a lab working on treatment for someone I love very dearly.

As a previous teacher, I’ve always been passionate about learning. Specifically, creating life-long learners who view the world as their classroom, ask questions often, and actively pursue new nuggets of knowledge. So when Duchenne entered our families’ life, it became yet another opportunity for us to learn and explore. As we started to educate ourselves on all the exciting science being done for this particular disease, it just wasn’t enough to read about it. For me, it was like the idea of teaching about a place using a textbook, versus taking a field trip to the actual place. To be able to see, feel, smell, experience the science I was reading about would only make me better understand and appreciate it (even if I only understood a small portion of it, as so much of it is very complex and often beyond my comprehension.) But like learning a new language, I’ve also learned the more I can immerse myself in something, the more of it I understand, the more I admire it.

The CRD Lab tour at the Lek lab in Yale was such a fun way for myself, along with my kids, to see and learn not only about particular research and development that hits close to home for us, but to see the faces that spend countless hours in the lab, working to make a difference for families like ours. We had so much fun sitting down with Dr. Monkol Lek and listening to him explain how whole genome sequencing is a lot like solving a jigsaw puzzle. There was something powerful about being able to tell my son; “Hey remember that blood draw we did a while back? Well, this is the guy that got that sample, and what he talked about was what he did with that blood of yours.” The idea of this magical place, with these people doing magical things, became much more real, and brought a different sense of hope and perspective to what so often feels like a far off idea.

In addition to seeing that this lab is a real place, with real people, I loved simply exposing my kids to real science; not the kind they often see on tv, where things happen over night and involve some level of explosion. But showing them what a career in research and development might look like, and what it requires. And although they aren’t handling smokey beakers, their work is very exciting and making a difference in this world.

Lastly, the community aspect of such a tour was very powerful. To see in one room, particularly on a weekend nonetheless, researchers, parents, and kiddos, gathered together to learn, both about science and each other, was such an impactful experience. The world of rare disease can often feel very lonely, so to be together with the people I often read about, and with families who are experiencing something similar to ours, brings much needed encouragement to this difficult journey. Progress is possible because of the people that put in work at the lab. Progress is achieved because of families who work so hard to fund that work. And progress happens because of patients who willingly donate skin, blood, and muscle to that work. I preach to my family that teamwork makes the dreamwork, and the lab tour day was a testament to that.