TRANSCRIPT

Growing up, my favorite part of the day was in the evening when my mom would tell me stories. They helped me feel connected to a larger community and it sparked my curiosity to learn the stories of those around me and to lend a helping hand when I could. That passion led me to pursue a career in community organizing, where I could help more people connect around common struggles and find solutions.

In 2015, I started a campaign to improve access to mental health care in my community. And as I met with community members, I was heartbroken to hear their despair over ever finding a solution and support for loved ones who struggled with a mental illness.

So I eagerly set appointments with researchers and clinicians who were experts in mental health care. And instead of helping us find solutions, we were told that there was nothing we could do. We just needed to wait and let the experts do their work.

It was insulting. I left those meetings feeling this growing sense of frustration. There was a critical disconnect between the family struggling to care for their loved ones and where the researchers and clinicians were prioritizing their time.

When I get frustrated, my coping mechanism is to bury myself in research looking for solutions. I checked out dozens of books about mental health care and pored through government websites to learn all of the acronyms and jargon. The more I learned, the more I saw a need for a bridge between the experts in science and governance and the communities that they serve.

The few initiatives that I found that were working to address that problem were championed by academics and clinicians who could lend the weight of their expertise to the community. So after careful consideration, I decided that, as ridiculous as it might seem, the best way for me to help was to go back and get my PhD.

So, I started interviewing with research labs at my local university and I was intrigued by a group that was working on a rare inherited childhood epilepsy called Lafora Disease. During the interview, the professor showed me pictures of patients with Lafora Disease and told me how their parents had been instrumental in pushing for the researchers to apply for a collaborative grant to accelerate the therapeutic research. And I was thrilled to find a lab that prioritized patient research collaborations.

So I joined the lab and spent the next five years learning how to study rare diseases. And around the time I was wrapping up my dissertation, I learned about an exciting opportunity. The patient advocacy organization for Lafora Disease, Chelsea's Hope was looking to hire a science director in order to help them bring together researchers and clinicians around a new set of priorities that was emerging from the patient community. I applied, accepted the job offer and jumped into the work with enthusiasm.

I started by organizing our annual science symposium inviting industry representatives, clinicians, researchers and family members to come together and discuss progress towards a cure.

I quickly learned that pharmaceutical companies were reluctant to commit resources for an ultra rare disease. And despite my efforts to show that we had a clear therapeutic target and strong pre clinical data to show efficacy in animal models, the conference ended with no clear path forward to getting patients into clinical trials. It felt like a personal failure and I had no idea how to bridge the gap between families and these industry partners.

And, worse, I had this expanding list of skills that I needed to learn to be able to manage the day to day operations of the organization, updating bylaws, establishing advisory boards, creating a social media presence and building relationships with regulatory agencies.

A month after the symposium, I felt completely overwhelmed and I wondered if I had made a mistake in taking on this role.

Then one night, after a particularly frustrating day of sending emails and receiving zero responses, I found myself dreading the upcoming committee check in meeting. I felt like I had nothing new to report and nothing to offer.

It was past my usual bedtime but one of the few times that everyone could meet, because we're spread out over so many different time zones. I was sitting in my kitchen, clutching my cup of Earl Grey tea like a lifeline. It was a smaller group checking in that night than normal. Most of the members on the committee are caregivers for children with Lafora Disease and it's not unusual for them to have a last minute emergency that comes up.

That night, our family support coordinator, Nikki, hopped on for our call looking tired but determined. I knew that her daughter had recently been in the hospital battling multiple infections, so I asked her for an update.

And as she shared the terror of the past couple of weeks, the round the clock vigils, the desperate parade of medications trying to stabilize her daughter, my exhaustion from the work day begin to fade. This was a whole new definition of hard. And here was Nikki online and ready to do whatever it took to help other families work to find a cure for this devastating disease.

While my tasks felt no less daunting, Nikki's story reset my perspective and solidified my determination to keep working, for her daughter, for the other children with that disease like her and for all of their families.

So, I signed off the meeting with renewed energy and I worked late into the night to map out strategies for building our organization's capacity to attract new industry partnerships. And, excitingly, one of those strategies led to the development of a community funded safety study that's going to be starting in November 2024.

There's still much work to do. Every day feels like a race against the clock to get treatment to these patients, but, now, in moments when I feel overwhelmed, I think back to Nikki's story and it keeps me moving forward.

We haven't yet closed the gap between our families and our industry partners, but we are building a bridge piece by piece, and we're closer than ever before.

Thank you.