Rowan ’27 is working to build a more connected and hopeful future for families affected by MED13L Syndrome by creating an accessible podcast platform to improve communication, increase engagement, and ensure that critical research opportunities and resources reach the community where and when they need them most.
MED13L syndrome is a rare genetic disorder that has an occurrence rate of 1.6 out of every 100,000 live births. It is a complex developmental disorder with a spectrum of symptoms including intellectual disability, hypotonia, gross, fine motor and speech delays, social challenges, autism, seizure disorders and congenital malformations.
This rare condition arises from mutations in the MED13L gene, crucial for regulating gene activity during development in the hippocampus. Inheritance is typically autosomal dominant, with most cases classified as “de novo“, meaning they are not inherited.
My sister, Elle, has MED13L Syndrome. With her big personality, love for WWE, monster trucks, sports and spaghetti, she is the center of our family. This summer, as a MED13L sibling, I was invited to join The MED13L Foundation as an intern with the goal of building a more accessible way to connect families with information, community, and research opportunities. When I initially connected with the Board, I learned that the foundation has been solely relying on their website, newsletters, hour long Zoom recordings and static social posts to communicate their information and fundraising opportunities with minimal participation from the community. With an estimated 287 clinically diagnosed patients in the US, engagement rates averaged around 30 responses per request. A noticeable discrepancy.
As the foundation works to build a toolkit of information to entice researchers, pharmaceutical companies, and biotech firms to support their quest for a cure, patient engagement is crucial for natural history studies, biospecimen collection and participation in research. Patient engagement has been one of the foundation’s biggest challenges. Getting families to understand that therapeutic hope is a real possibility for their children is difficult due to caregiver fatigue, lack of understanding, and time. Families, struggling to juggle caring for a child with a rare disease in addition to their other children often don’t hear about the foundation’s calls for help through newsletters or on their website. With everyone’s inboxes inundated with emails relating to their job, therapists, medical appointments, and their children’s educators, newsletters from the foundation are often going unseen and unfortunately, unanswered.
The foundation needed an easy, digestible format to push out “Asks” to the community that can be accessed while families are multitasking and on the go. That’s why developing a podcast and a digital content platform that could deliver information in the format families are already using, such as audio, video, and social media clips, they can be informed without having to comb through long emails or set reminders to visit the foundation’s website.
A recent experience solidified this direction: The MED13L Foundation hosted a research and family meetup just outside of Boston this past weekend where over 40 families came together to learn about current research, participate in studies, and connect with other families living with MED13L. Listening to the recap of the incredible experience made something very clear: families aren’t disengaged, they’re craving a relationship with the foundation and the MED13L community… They’re craving hope. With everyone surprised at the efforts underway for genetic therapies and drug repurposing families were energized to engage. Despite the foundation’s efforts to keep the community in the loop through newsletters, many were hearing of the scientific breakthroughs for the first time at the conference. It was obvious that more digestible access points to the information is key to maximizing community participation.
Communication isn’t about content, it’s about accessibility to ensure connection. Families need resources delivered in the moments and formats that work for their busy lives, whether that’s a short podcast while commuting to therapy, or a 60 second video shared in The MED13L Family Facebook group.
As I wrap up my internship, I’m leaving behind a fully developed framework for The Voices of MED13L Podcast: a sustainable, community driven platform to keep families connected and informed. What happens next is even more important: the foundation’s leadership and community members will begin producing episodes using this framework. In an effort to support community engagement, I created a short survey that was distributed at the conference for families and loved ones to submit topics they are interested in learning about and guest speakers they’d like to hear from in addition to the foundation’s announcements.
I hope that this platform becomes more than just a communication tool, rather a place where knowledge meets community, and where families can easily stay up to date on the latest research opportunities and advancements within the foundation and feel empowered to participate in building a better future for their loved ones living with MED13L syndrome.
Because when you’re rare, everyone counts.
