Leading the Way: An Interview with Amanda Nolan

In our “Leading the Way” series, we highlight the inspiring work of patient advocacy group (PAG) leaders. This month, we’re featuring Amanda Nolan, Co-founder, CUL3 Support & Awareness. Amanda shares her journey into rare disease advocacy, her leadership insights, and the incredible progress made by the CUL3-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 Amanda Nolan, and my husband and I are parents to a wonderful 10-year-old son with CUL3-related neurodevelopmental disorder. I have a background in research and have spent my career in government.

My journey into patient advocacy began with my own health. Several years ago, I was diagnosed with a systemic autoimmune disease called Sjögren’s. When I realized there was no local support group, I started volunteering with the Sjögren’s Society of Canada to help create one. That experience showed me just how powerful a strong support network can be.

A few years later, when our son was diagnosed with a CUL3-genetic variant, I found myself navigating unfamiliar territory once again. After a long and difficult search for answers, we finally had a name for his condition – but little information to guide us. With limited research available and no existing patient advocacy group for families like ours, I knew I had to act. That’s why, in 2023, I founded CUL3 Support & Awareness to help bring families together, raise awareness, and provide support through resources.

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

From infancy, I noticed our son wasn’t always reaching typical developmental milestones. He had delays in fine and gross motor skills, speech and language development, and cognitive abilities. He also had low muscle tone and growth faltering, and he didn’t start walking until he was two and a half. But because he often seemed to “catch up” later, his doctors weren’t initially concerned. As he grew, however, the gaps became more apparent. When he was four, we pushed for a genetics consultation, but the specialist decided to hold off on comprehensive genetic testing, opting to “wait and see” how he’d continue to develop. I’ll be honest – to this day, I still don’t fully understand that decision, and looking back, it’s frustrating. Over the next few years, we closely tracked his progress, and when we revisited genetics at age eight, whole genome sequencing finally gave us an answer: a CUL3 variant.

Like so many families facing a rare disease diagnosis, we were suddenly thrown into a world with more questions than answers. It was overwhelming. As a researcher, my instinct was to dive in – I scoured the internet, reached out to scientists, and looked for any information I could find. I also joined Simons Searchlight’s online support group. Connecting with other families going through similar experiences was a huge relief. It reminded us that we weren’t alone in this journey.

3. Your leadership with CUL3 Support & Awareness has made a significant impact. What inspired you to take on this role?

When our son was first diagnosed, there was barely any information available – just a handful of research articles and the Simons Searchlight online support group. I didn’t have a background in medicine or genetics, but it quickly became clear how critical research is in opening the door to better treatments – or even a cure. I also learned something that caught me off guard: in the rare disease space, it’s often families who drive that progress forward. Yet, there was no dedicated advocacy group for CUL3 to help bring families together and advance research.

That realization pushed me to take action. I saw the need for a strong, supportive community – one that could connect families across the world, provide clear and accessible information, and make research feel less daunting.

4. Can you share a memorable moment or achievement from your time with CUL3 Support & Awareness that stands out to you? Why is it particularly significant?

One of the most meaningful moments for me so far was launching our patient advocacy website. Before this, there was almost no online information specifically for parents navigating CUL3-genetic variants. Seeing all the hard work come together and knowing that families around the world now had a dedicated space to share their stories and access reliable information, was incredibly rewarding. It was especially validating to hear from families whose genetics teams had recommended our website as a resource, and from new parents reaching out for support. That was the moment I knew our mission – to connect, support, and raise awareness – was helping make a difference.

We’re so fortunate to have strong partnerships with organizations like Simons Searchlight and dedicated neuroscientists actively researching CUL3. I’m committed to expanding our reach, strengthening our resources, and making research more accessible. I truly believe that by working together, we can continue to create a meaningful impact for families affected by CUL3-related neurodevelopmental disorder.

5. When organizing patient advocacy and research meetings or gatherings, what key lessons have you learned through this process?

So far, our meetings have been entirely online, but we’re excited about the possibility of hosting an in-person gathering or conference in the future. Throughout this experience, I’ve come to appreciate just how much planning and coordination go into organizing family meetings and working with researchers and medical professionals. I’ve had to quickly pick up new skills in areas I never expected – marketing, design, and social media – while also navigating logistical challenges like time zones and language barriers. In the beginning, I managed everything on my own, but recently, other parents have joined our family advisory committee, making it more of a team effort.

One of the biggest takeaways for me has been realizing how difficult it can be for families to access and engage with research. There’s often a gap between the scientific world and the people it directly affects, which is why I’m deeply committed to making research and related resources more approachable.

6. Could you provide insights into the challenges you’ve encountered while advocating for individuals with a CUL3-genetic variant? How have you managed to overcome these challenges, and what lessons have you learned along the way?

Advocating for individuals with a CUL3-genetic variant comes with unique challenges, largely because the condition is so rare and still relatively new within the rare disease community. With no existing patient advocacy group to build upon, raising awareness, developing resources, and creating a support network meant starting from scratch. Families navigating the healthcare system need reliable information, but those materials have to be developed step by step.

Another challenge has been building a truly global community. While the non-profit I founded is based in Canada, expanding outreach and securing funding – especially in places like the United States – has been a complex process. Despite these hurdles, we’re making steady progress by strengthening connections with scientists, researchers, and other professionals who share our commitment to advancing knowledge and support for this condition.

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 to others?

Other patient advocacy groups in the rare disease community have been an incredible source of support and inspiration. It’s amazing to see what parents, caregivers, and families can accomplish when advocating for their children. Their resilience and dedication are a constant reminder that progress is possible and that even in uncertain times, there is hope for the future.

For those on a similar journey, I encourage building a strong support network and staying connected with the rare disease community. Getting involved with advocacy groups, attending events, and participating in research can open doors to new opportunities, collaborations, and resources. Every small step – every conversation, shared experience, and awareness effort – helps move things forward and create real change.

8. How has Simons Searchlight been a resource for you and your community?

Simons Searchlight has been an incredible resource for both me and the CUL3 community. It was the first place I found reliable information about CUL3, helping me understand how to participate in research and connecting me with others on the same journey.

When I founded the CUL3 Support & Awareness patient advocacy group, the team at Simons Searchlight was there every step of the way. They answered my questions, reviewed my materials, and provided guidance whenever I needed it. Their dedication goes beyond research – they truly engage with the community, supporting families, collaborating with scientists, and sharing insights through genetic counselors and presentations.

Simons Searchlight is also currently our sole patient registry and biorepository, which is critical for advancing research and deepening our understanding of CUL3-related neurodevelopmental disorder over time. Their commitment to both science and patient advocacy is remarkable, and I’m incredibly grateful for their ongoing support.

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

My greatest source of motivation is my son. Despite the challenges he faces, he meets them with a smile and an undeniable zest for life.

I’m also driven by a deep need to learn – not just to make his journey a little easier, but to help other families navigating a similar path. I remember the fear and uncertainty that came with his diagnosis, and I don’t want other families to feel lost or alone. Advocacy is my way of turning those early worries into action. Knowing that the work we do today will help create a more informed, connected, and hopeful future is what keeps me going.

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

When our journey with CUL3 began just over two years ago, the online community was incredibly small – fewer than 30 members – and only a handful of research papers existed. Today, that same group has grown to over 150 members, bringing together families and individuals from around the world. More research articles have been published, including larger case studies, and neuroscience research is actively progressing. None of this would be possible without the dedication of scientists, researchers, and the incredible CUL3 community.

Living with and advocating for a rare genetic condition comes with many challenges, but no one should have to face them alone. There is strength in knowledge, in advocacy, and – most importantly – in community. Together, we are making a difference.