Leading the Way: An Interview with Emily Amerson

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

My name is Emily Amerson and my husband, Cody, and I have two beautiful little girls, the older of whom is affected by CTNNB1 Syndrome. Like many others in this space, I never envisioned getting involved in rare disease patient advocacy. I left my high school math teaching job to start an online tutoring business, perfectly timed with the arrival of our first baby so I could stay home with her and work in the evenings when Cody got off work from his office job. Having just earned my master’s in mathematics, the plan was to have a couple more kids and return to teaching full-time once the youngest started school. Life has an interesting way of shaking up plans, doesn’t it? At six months old, Savannah started missing some milestones and displaying concerning symptoms. At seven months, she began having seizures. By the time she was almost ten months old, we received our answer: CTNNB1 Syndrome. With lifelong caregiving now in the picture, I quickly embarked on a new plan to find purpose in this new world we had entered.

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

I will never forget the day we got Savannah’s diagnosis. Having an answer to her symptoms removed a huge layer of uncertainty but also solidified the permanence and severity of her condition, adding new layers of uncertainty. My husband and I took turns supporting each other during those first few months—one of us in despair, the other supportive and hopeful, and then we’d switch. To be honest, we still do this, but it’s less intense now, and the periods of stability between the switches are longer. Our family and friends have showered us with so much love and support, for which we are immeasurably thankful. Looking back, I can see how God prepared us for Savannah, her diagnosis, and the leadership role I have taken on.

3. Your leadership with CTNNB1 Connect & Cure has made a significant impact. What inspired you to take on this role?

About 10 days after receiving the CTNNB1 diagnosis, Cody and I decided we wanted to be part of the journey toward cures and treatments through fundraising and raising awareness. Within three months, we raised $50K for research and were featured in three local news articles. This experience validated my desire to dive in headfirst and dedicate a large part of my life to this cause. I started by managing CTNNB1 Connect & Cure’s social media, then took on more tasks, and eventually stepped up to replace the founding President, Lauren Cochran, when she decided to step back. Being involved has been the only productive way to channel the anxious energy I feel about my daughter, and I truly believe I needed the involvement more than it needed me.

4. Can you share a memorable moment or achievement from your time with CTNNB1 Connect & Cure that stands out to you? Why is it particularly significant?

The most memorable achievement so far was this year when a lead compound for CTNNB1 Syndrome corrective outcomes was selected by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH) for optimization. The goal is to develop a drug candidate in preparation for human clinical trials. Entry into the Therapeutics for Rare and Neglected Diseases (TRND) program at NCATS’ Division of Preclinical Innovation (DPI), Therapeutic Development Branch (TDB), was made possible thanks to the tireless work of our principal investigator, Michele Jacob at Tufts University, in collaboration with her partners at The Broad Institute of MIT and Harvard.

This is likely the most significant milestone we’ve reached as a patient advocacy organization. The CTNNB1 community has worked so hard to raise the funds for this research over the last four years, so seeing the federal government join these efforts is invigorating. We are extremely excited and hopeful for what’s to come.

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

This year marks my first time being involved in planning a CTNNB1 conference. Our former President, Lauren, did an incredible job organizing our first in-person CTNNB1 conference last year and coordinated it with clinical evaluations for our Natural History Study. A key lesson, which I learned from her and that we’re repeating this year, is to take advantage of having a group of patients all in one place. This includes gathering data, whether through in-person evaluations or walking families through the research opportunities and how to sign up. Equally important, in my opinion, is embracing the opportunity to build community. We are rare and geographically spread out, and online communications can only go so far. The most meaningful moment during the three days of last year’s conference, as a parent attendee, was my first hug with another CTNNB1 mom. For many families, it’s the first time being in the same room with others who truly understand. Conferences are also a place for connections between families, researchers, clinicians, and other stakeholders, none of whom are usually in regular proximity to each other. Beyond logistics, I think it’s crucial to prioritize two things: data and connections.

6. Could you provide insights into the challenges you’ve encountered while advocating for individuals with a CTNNB1 genetic variant? How have you managed to overcome these challenges, and what lessons have you learned along the way?

To move forward in our mission, CTNNB1 Connect & Cure has a responsibility to actively facilitate and seek out connections and collaboration between all stakeholders. This is no small feat when considering the different realms involved: patients, clinicians, scientists, industry, and more. Reminding everyone of the bigger picture—helping CTNNB1 patients live better lives—has been instrumental in this process. I picture it as an investigation corkboard, but instead of uncovering a crime, we are uncovering this shared goal. Each yarn string connection gets us one step closer to that goal.

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?

As a patient advocate, the most helpful support has come from other patient advocates. I think all patient advocacy organizations share a team mentality, where success for one is success for all. This theme has been evident in all my interactions in this space, and it’s one of the things I love most about the work I do. We are grateful to be partnered with several groups that have built infrastructure for direct or cross-disorder support, such as Simons Searchlight, COMBINEDBrain, REN, Global Genes, NORD, the Orphan Disease Center, EAN, Probably Genetic, and others. I encourage others to be active learners and contributors in these broader spaces because I’ve seen firsthand how much stronger we are together.

As a parent, my greatest support has come from the CTNNB1 community and our local disability community. I view these two spaces the same way I view the rare disease

space—working together and moving forward together. On the family side, it’s more personal connections and emotional support, but in my experience, there’s the same genuine willingness to help, much like in the broader rare disease network.

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

The community is what keeps me going. I’m here because of my love for my sweet Savannah, but what sustains me in my day-to-day work and fuels me to keep pushing forward is the support and teamwork of my fellow board members, our CTNNB1 community, my local disability friends, and the broader rare disease community. We are indeed “stronger together.”

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

I want to thank Simons Searchlight for their partnership and the important work they’re doing in the field. I also want to encourage others who are considering getting more involved in patient advocacy that anyone can add value to the cause. Most of us weren’t trained for this work, but with a passion for learning, a collaborative spirit, and determination, anyone can make a difference. It’s up to advocacy leaders to place the right skills in the right places, but it’s up to the individual to take that first step. I promise you won’t regret it!

Learn more about CTNNB1 Connect and Cure at www.curectnnb1.org.