RARE Daily

Rare Leader: Carla Forbes, President and Co-Founder of FamilieSCN2A Foundation

November 18, 2021

The Basics
Name: Carla Forbes

Title: President & co-founder

Organization: FamilieSCN2A Foundation

Social Media Links: 

Disease focus: Epilepsy and Autism associated with a change in the SCN2A gene

Headquarters: East Longmeadow, Massachusetts

How did you become involved in rare disease: My son, Colin, started having seizures on the 2nd day of life. He didn’t get a diagnosis of SCN2A until 2013 at 20 months old. At that time there was no support group, no foundation, no path developed to know what Colin’s future would look like. We were told that he won’t walk, will seize every day, and was at risk of not surviving past age 2. Oh, and that he was the only one with SCN2A and we won the genetic lottery. After six months of tweeting #SCN2A and following every neurologist and epileptologist, I met a mom in the United Kingdom. She told me she just found an SCN2A epilepsy Facebook group. We were the fifth family to join. Everyone in the group was eager to learn from each other. When the group grew to 30, Leah Schust Myer called me and asked, “Hey, how much extra time do you have.”  

Previous career: Dance instructor, choreographer, and office manager

Education: BFA from the University of Massachusetts

The Organization
Organization’s mission: We are an organization created by parents of children diagnosed with rare forms of epilepsy and autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support, and patient advocacy.

Organization’s strategy: To accomplish our vision and mission, we coordinate and collaborate with the global scientific community to understand the function of the SCN2A gene to develop effective treatments and a cure for SCN2A disorders. We increase the medical community’s and public’s awareness of the complexity and potential severity of SCN2A disorders. We provide educational and emotional support for those affected by SCN2A disorders. And we raise money to fund our goals.

Funding strategy: We continue grassroots fundraising efforts to spread awareness, funding, and allow each family to find their local support. We also rely heavily on board members’ participation to reach out to their inner circles. We’ve also established several annual events: SCN2A Day, Annual Campaign, and our Warrior Challenge Run.

What’s changing at your organization in the next year: We are honored and thrilled to be an awardee of the Chan Zuckerberg Initiative. This will give the foundation resources and opportunities to expedite SCN2A awareness and research. We also have the possibility of starting clinical trials this year with compound work we have been funding.

Management Style
Management philosophy: My top 5 philosophy points:

  • Build trust, have integrity, and demonstrate competence. 
  • Manage with empathy and accountability. 
  • Position each team member to be successful. 
  • Treat each individual with respect and humility.
  • Commit to growing the skill set of every team member

Guiding principles for running an effective organization:  Always knowing where the holes are in the foundation. Ask for help and delegate. And learn from each event or decision made. The best tool I learned to love is Leah Schust Myer’s “Stop, Go, and Continue” sheet.

Best way to keep your organization relevant: Regular check-ins with the community’s needs to ensure we are meeting them and making the improvements necessary. Also, stay true to the mission statement at all times.

Why people like working with you: I am usually on getting-stuff-done mode with a good cup of coffee. And I almost always will have a corny joke on hand.

Mentor: My parents are my mentors. They moved to the United State in 1977, leaving their large families in Portugal. They had to learn a new language and create a better life. They never stopped learning, enjoyed good friends, and loved hard. My parents are amazing examples of facing every challenge head-on—the good or the bad. No matter what, they owned it, and always kept moving forward. No matter what life threw at them, they kept moving. My brother reminded me of how our father was always still there with us even after his stroke. He would squeeze our hand to acknowledge he was there and still moving forward with us. He always did that until the very end, which represents how he never quit in life, for family, friends, and everyone he met along this journey. I miss his squeezes but will continue to pass them on to friends, family, and the SCN2A community.

On the Job
What inspires you: Our community inspires me. The passion, dedication, and support they unselfishly give to support each other in our online Facebook group.

What makes you hopeful: Listening to the researchers discuss their latest discoveries, collaboration, and seeing other rare disease groups have treatments approved.

Best organization decision: Transitioning from an all-volunteer organization into a governing board and the development of the Clinical Trial Readiness Study.

Hardest lesson learned: You can’t do everything, at least not well. Always divide and conquer with strong transparent communication.

Toughest organization decision: Transitioning from an all-volunteer organization into a Governing Board.

Biggest missed opportunity: In 2014, we were still learning about the patients owning the data to ensure access to everyone, including industry.

Like best about the job: Connecting with the families and creating programs based on their needs.

Like least about the job: Repeated tasks. I love learning the world of automation and Zapier.

Pet peeve: Spitting on the sidewalk and people who seriously think they’re kind of a big deal.

First choice for a new career: Something with movement again—yoga teacher possibly

Personal Taste
Most influential book: The Boy Who Loved Windows: Opening The Heart And Mind Of A Child Threatened With Autism by Patricia Stacey

Favorite movie
: Easter Parade or any movie with Fred Astaire and Judy Garland

Favorite music
: Depends on mood but every genre is a favorite except heavy metal.

Favorite food: Mediterranean food

Guilty pleasure: Cheesecake 

Favorite way to spend free time: Driving down the scenic routes in New England with the windows down and sitting on the beach with a list of podcasts


Stay Connected

Sign up for updates straight to your inbox.