Leading the Way: An Interview with Jackie Steinberg

In our “Leading the Way” series, we highlight the inspiring work of patient advocacy group (PAG) leaders. This month, we’re featuring Jackie Steinberg, MPH, BSN, Vice President & Scientific Liaison, STXBP1 Foundation. Jackie shares her journey into rare disease advocacy, her leadership insights, and the incredible progress made by the STXBP1-related disorder community.

1. Can you tell us a little about yourself, your family, and your journey into the world of patient advocacy?

My name is Jackie Steinberg, and my husband, Eric, and I have two wonderful boys. Our youngest, Alex, was born with a rare genetic neurodevelopmental disorder called STXBP1-related disorder. Although I work in healthcare, my journey into patient advocacy felt like stepping into a whole new world—one as a caregiver to a child with a disability and as part of the rare disease space. The opportunity to help my own family, along with so many others in the STXBP1 community that I’ve come to care deeply about, motivated me to get involved. It’s been incredibly rewarding to be part of this community and to support families who share similar experiences.

2. Can you share your experience with your child’s rare disease diagnosis and how you navigated through it as a parent?

Shortly after we brought Alex home from the hospital, we noticed abnormal movements in his arms and legs, which we later learned were tonic-clonic seizures. Once we managed to control those seizures, Alex began having a new type of seizure called infantile spasms, which started around 2 ½ months old. He was then evaluated by a medical geneticist and genetic counselor, who recommended several genetic tests.

While the diagnosis brought a sense of relief because it explained the cause of Alex’s seizures, it also left us with many questions and concerns about his future. The uncertainty was daunting. What truly helped us navigate this journey was connecting with other families whose children had the same disorder. Their understanding and shared experiences were a source of comfort. I also learned so much from their stories, and their support has made a huge difference in our lives.

3. Your leadership with STXBP1 Foundation has made a significant impact. What inspired you to take on this role?

After Alex’s diagnosis, I researched everything I could find about STXBP1-related disorder. I was amazed by how much the fields of medicine and genetics had advanced since my college days studying genetics. At the same time, I became aware of the challenges involved in bringing a drug from concept to reality, especially within the rare disease space.

Before joining the board, I attended the 2019 American Epilepsy Society (AES) conference in Baltimore, MD, where I worked at the STXBP1 Foundation’s exhibitor table. It was exciting to raise awareness and connect with providers and researchers about the disorder.

When I was later asked to join the board, I wanted to help maintain the momentum the foundation had built since its formation just a few years earlier. I was eager to contribute to its growth and success, knowing the positive impact it could have on families and researchers in the future.

4. Can you share a memorable moment or achievement from your time with STXBP1 Foundation that stands out? Why is it significant?

This is a difficult question because there have been so many milestones for the STXBP1 Foundation in a short time. If I had to choose one, it would be the launch of the STXBP1 Natural History Study—STARR. This was a major achievement involving collaboration across institutions, developing a comprehensive protocol, securing funding, and recruiting participants.

The scale of the project was remarkable, requiring immense coordination and dedication from so many people. It’s significant because of its potential to advance our understanding of STXBP1-related disorder and support future research and clinical trials. The study is a critical step toward building the data needed to improve outcomes for individuals and families affected by this condition.

5. When organizing patient advocacy and research conferences, what key lessons have you learned?

The first STXBP1 patient conference took place in 2019, shortly after Alex was born and before I joined the board. It was memorable because it was one of the first opportunities I hadto meet families in person that I had only connected with online.

Since then, we’ve learned many lessons and benefited from community members with expertise in event planning, marketing, and design. Organizing these conferences is a massive collaborative effort, relying on dedicated volunteers and committees to cover all aspects of the event. Effective communication and coordination are essential to ensure everything runs smoothly.

Creating an inclusive and supportive environment for families has been a top priority. We offer a family room for kids to play, private changing areas, and online access with translation services for those who can’t attend in person. (Content slightly restructured for clarity.)

As the Scientific Liaison for the STXBP1 Foundation, I also work closely with researchers on biospecimen collection and other efforts. One important lesson I’ve learned is the need to reduce barriers to research participation. As a parent of a child with complex needs, I understand how overwhelming it can be. Making research accessible is crucial, and it’s something I’m passionate about.

6. Could you provide insights into the challenges you’ve encountered while advocating for individuals with an STXBP1 genetic variant? How have you managed to overcome these challenges, and what lessons have you learned?

A universal challenge in rare disease is finding your global community. The STXBP1 Foundation has been advocating for earlier diagnoses, making content available in multiple languages, and connecting with families worldwide.

Over the past several years, STXBP1 communities have formed globally, and all are welcome to join quarterly calls as part of the STXBP1 Global Connect network. This group also conducts a global census, which has already identified over 1,157 people with STXBP1.

7. What resources or support networks have been most helpful in your role as a patient advocate and parent? Are there any tools or strategies you’d recommend?

As a patient advocate, I draw inspiration from others in the rare disease community. Their dedication reminds me that, together, we can accomplish so much.

As a parent, I’ve relied on my family and friends—both within and outside the STXBP1 community—for advice and support. One of the most valuable lessons I’ve learned is not to be afraid to ask for help when needed. Advocacy and caregiving can be overwhelming, and a supportive network is essential.

I’ve also learned to trust my instincts—speaking up when something doesn’t feel right and advocating for my child’s needs. Finally, I’ve learned to give myself grace. No one is perfect, and we’re all a work in progress. These principles—seeking support, standing up for your child, and being kind to yourself—are strategies I recommend to others.

8. What is your mantra or source of motivation that keeps you going as both a parent and a patient advocacy leader?

My motivation is Alex. Despite the challenges he faces, he works hard in school and therapy and often does so with a smile. His resilience inspires me daily. Alex has taught me the true meaning of perseverance, and his strength drives me to keep advocating for him and the STXBP1 community.

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

The STXBP1 Foundation began with a small group of parents determined to make a difference. The progress we’ve made wouldn’t be possible without the unwavering support of scientists, researchers, advocates, volunteers, donors, and the STXBP1 community. Through collective effort, we continue to move forward, and I’m incredibly grateful to everyone who has contributed. Together, we’re making a lasting impact, and I’m excited to see what the future holds.

Learn more about STXBP1 Foundation on their website and visit our Simons Searchlight STXBP1 gene webpage for summarized data reports and other support resources.