The Power of Collaboration & Raising Awareness for Patients with Rare Diseases
By Lauren Perna, MassBio's Senior Director of Member Services
Here at MassBio a large part of our role is to be a connector. And as the Sr. Director of Member Services, I am often on the front-lines of making connections. I am constantly introducing members to one another and helping members expand their network. It’s always exciting when I see the product of our efforts come to fruition, like finding out two members are working together. While this happens quite frequently, it’s not as frequent that I find out several members are working together to spearhead a new fundraiser.
At the beginning of this year, my colleague Erik Rocheford of long-time MassBio member, Stratacuity, reached out to pick my brain about a fundraiser he and a few colleagues were thinking of planning. He told me about the group’s idea to start a fundraiser for research around the inherited rare disease, Fragile X. The idea began after Dave Bjork of the FRAXA Research Foundation attended a Fragile X event at Fulcrum Therapeutics—a biotech company developing medicines that transform gene regulation in diseases like, and including, Fragile X. The Fulcrum event was planned by then-employee, Sarah Coughlin, now Director of Talent & Development at Hollister Staffing. Dave reached out to Sarah to get her feedback on his idea for a fundraiser in the form of a backyard games competition in Kendall Square. Sarah then looped in Erik, who both works with Fulcrum Therapeutics and is a neighbor of Mike and Katie Tranfaglia, founders of the FRAXA Foundation. Erik began doing his research on how they could orchestrate such an event and that’s where I came in. After meeting over dinner and a few subsequent phone calls, I finally told him to just invite me on the planning calls. I was happy to lend my event-planning expertise and my knowledge of the local community to the cause.
Once I joined the planning committee, I was so thrilled to see that this event was a very collaborative effort. While we know the industry itself is quite collaborative, this situation was interesting because the group represents each subset of our membership (biotech, associate, non-profit) and each participant has a unique connection to the cause. In addition to the above-mentioned originators, the group includes Andres Centellas from Shire, whose son has Fragile X, Fulcrum employee Mike Cameron, Susi MacDonald of Stratacuity, and Lauren Laidlaw from dedicated community member and biotech service-provider, Safety Partners. The group also has Jeff Cohen, who’s a Fragile X dad and dedicated FRAXA volunteer. Everything came full circle when we decided to host the event at MIT’s Kresge Oval and put the funds towards research being done at the Bear Lab at the Picower Institute at MIT.
After my first planning call, I asked to meet Andres over coffee to learn more about his son and Fragile X. Andres’ son, Gael, was diagnosed with Fragile X when he was 3. It took nearly 3 years for Andres and his wife, Kelly, to identify a cause for Gael’s delays and high anxiety in social settings and new places. Fragile X is hard to identify because the physical signs are not as apparent in babies. The signs tend to become more recognizable with age such as a long face, large ears, flat feet, hyperextensible joints, low muscle tone and large testes in adolescent boys. Symptoms oftentimes can range in severity and include intellectual disabilities, ADHD, anxiety, sensory issues, speech delay, autistic behaviors and seizures (source: www.fraxa.org). A few other key things to note about Fragile X:
- Fragile X is a “common rare” disease: it affects 1 in 4,000 males and 1 in 6,000 females (source: CDC).
- It’s the #1 inherited cause of intellectual disabilities and the most common known cause of autism worldwide. However, most people are not yet diagnosed (source: www.fraxa.org).
- Fragile X is a genetic disorder caused by a mutation in a single gene; both women and men can be carriers although women more so. The premutation can be passed down for generations before a child is born with the disease (source: www.fraxa.org).
Despite his limitations, Gael is thriving and according to Andres “is the happiest kid on the block.” As Andres and I were wrapping up, he presented me with a “Fragile X Awareness” business card; he and his wife created these to hand these out when they’re flying to their out-of-state families. The cards let fellow passengers know that Gael may have some difficulties on the flight. It’s also a creative way to generate awareness around the disease. As we know with any disease, especially rare diseases, the more awareness around the disease, the more we can help patients. So, whether that means spearheading a backyard games competition or handing out info cards on a long flight, awareness is a key step in the right direction of helping patients with any disease, especially a rare disease.
I’m happy to report that after lots of hard work from the team, the event is fully launched, and registration is in full swing. So, if you are into backyard games and want to flex your skills or if you just want to take a few hours out of your day for a good cause, I encourage you to register for the Sept 20th FRAXA Biotech Games: FRAXA Biotech Games Register. Sponsorship opportunities are also still available, as well.