State your name and any affiliations with genetic communities or patient advocacy groups.

Liz Marfia-Ash, President and Founder of GRIN2B Foundation, which supports families and individuals with a diagnosis of GRIN2B-related neurodevelopmental disorder.

What inspired you to take a leadership role with the GRIN2B Foundation?

When my daughter was diagnosed in 2014, there were no patient organizations for GRIN2B, so we were pretty alone in the first few years. There was a group with a few families on Facebook, but it became clear to me early on that we needed a website and a nonprofit to recruit families more easily and to support research. I couldn’t stand the thought of any other families feeling as alone as we did when we got the diagnosis.

Can you share a memorable moment or achievement from your time with the GRIN2B Foundation that you’re particularly proud of, and why it’s significant to you?

Earlier this year, we launched our first U.S.-based Center of Excellence for GRIN2B and related disorders at the Children’s Hospital Colorado in Denver. One of the first things we looked for after my daughter was diagnosed was an expert we could take her to, but there just weren’t any. For years and years, I’ve watched newly diagnosed families ask for doctor recommendations and the choices were always severely limited. It’s daunting to build something from the ground up, but we knew there was a need for expert care in our community. We researched other rare disorder centers of excellence and started taking meetings and planning and didn’t quit until we made it happen. We can’t wait to expand our center to additional locations around the U.S.

In your experience, how has being part of a patient advocacy community like the GRIN2B Foundation or Simons Searchlight positively impacted your family’s journey with your child’s rare condition?

It’s given us a purpose. We were very lost before we received our daughter’s diagnosis. We were lost afterward as well because, initially, there was nowhere to turn for help. Being connected to our worldwide GRIN2B community and a larger network of other rare genetic disorders through Simons Searchlight, Global Genes, and the National Organization for Rare Disorders (NORD) has helped to center me personally. This isn’t just something that happened to my daughter and my family. There are people all over the world affected by rare genetic disorders. It helps to know we’re part of something bigger.

When organizing patient advocacy and research conferences, what have you learned through this process?

Start planning sooner than you think and plan on recruiting a LOT of volunteers. I’ve learned the hard way that trying to run a Conference with minimal volunteers leads to extreme burnout. Also, make sure that you build in plenty of time in your conference schedule for families to connect with each other. Even though they love hearing from speakers, our families always tell us they want more time to connect with each other.

Could you provide some insights into the challenges you’ve encountered while advocating for your child and the rare disease community? How have you overcome them, and what lessons have you learned along the way?

My daughter is nonspeaking, and in her preschool years, we had some educational professionals who put some unfair limitations on my daughter and did not give her full access to a robust communication device. We did a lot of research on communication devices ourselves and found a local speech therapist who specializes in Augmentative and Alternative Communication (AAC). With her help, we ended up choosing a device for my daughter through insurance as opposed to what the school recommended. Our private speech therapist has since helped to educate the school on how to use my daughter’s device. We learned that no one is going to believe in our daughter more than we, her parents, will. It really taught me that we must be educated on best practices and that we can’t just assume that the school will always know best. Don’t be afraid to speak up if it feels like people aren’t giving your child everything they need to succeed.

What resources or support networks have you found most helpful in your role as both a parent of a child with a rare genetic disorder and a member of a patient advocacy community? Are there any specific tools or strategies that you’d recommend to others in a similar situation (e.g., creating a podcast to share their story)?

Facebook support groups have been invaluable. We have a few different groups for our disorder – one for parent support and one for discussing scientific research. GRIN2B Foundation is a member of both Global Genes and NORD, and each of those organizations has a private group where you can ask questions and share strategies with other leaders in the rare disease community. There are also a lot of wonderful resources for rare disease families on the websites for Global Genes, NORD, Child Neurology Foundation, and, of course, Simons Searchlight!

What did you find valuable in your previous role as a Simons Searchlight Community Advisory Committee member?

I loved getting to hear the experiences and perspectives of different patient advocates. I learn so much from collaborating with others and get so many wonderful ideas to take back to my community.

Is there anything else you would like to share with our community?

As important as it’s been for this journey to learn about GRIN2B, rare genetic disorders, and the ins and outs of running a nonprofit and being a patient advocacy leader, it has been just as critical for me to learn from the disability community. Learning about disability pride and ableism and hearing the perspective of disabled individuals themselves has helped to shape the way that I parent my child and support my community.