Leading the Way: An Interview with Aaron Harding

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

My wife, Monica, and I have been married for 28 years. We have two daughters, ages 25 and 23, and a son, Jaxon, 18, who has SYNGAP1-related disorder (S1RD). I am a clinical laboratory scientist and a retired U.S. Navy veteran, having served for 28 years with three deployments. Our military life is an important part of our story. With my medical background and Jaxon’s diagnosis in 2015, I felt motivated to get involved in patient advocacy to make a difference.

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

Jaxon had a traumatic birth in 2005, with the umbilical cord wrapped around his neck three times. He needed stimulation to start breathing, but his Apgar scores were normal. By his nine-month well-baby check, it was clear he wasn’t meeting his milestones, beginning our diagnostic odyssey. Was it the traumatic birth? Before Jaxon turned two and had barely started walking, I was deployed, leaving my wife to care for our three young children. During this time, Jaxon was referred to multiple specialists. I later learned from UNC-Chapel Hill medical notes that Jaxon presented with a “bothersome” picture with features of Rett syndrome (MECP2), and his developmental pediatrician suspected a genetic disorder. At that time, SYNGAP1 had not yet been associated with clinical findings, which occurred in 2009. At age three, Jaxon was diagnosed with autism spectrum disorder (ASD) and began having seizures. I was deployed again, during what was likely the most difficult period for my wife as Jaxon’s aggressive behaviors escalated. Jaxon did not receive comprehensive genetic testing until he was 10 years old, beyond the usual Fragile-X (FMR1) testing, which identified a missense variant. He was the 76th known patient diagnosed worldwide; currently, there are 1,450 patients.

Your leadership with the SYNGAP Research Fund has made a significant impact. What inspired you to take on this role?

My initial advocacy work helped organize the first international meeting and obtain NIH-funded grants for a limited number of researchers. However, it wasn’t until 2018, when I received a call from Mike Graglia and met him and Ashley, along with their son Tony, that I knew things were going to change. SRF started in June 2018. At this point, I was able to fully utilize my medical background and knowledge of the S1RD space to become part of an organization dedicated to extending its reach and helping patients and families with S1RD. Today, more scientists are working on SYNGAP1 than ever before, which is a testament to the Syngap Global Network—a collaboration of the international community to bring awareness to our rare disease.

Can you share a memorable moment or achievement from your time with SRF that stands out to you? Why is it particularly significant?

In September 2021, I received a message on Messenger from Marta, who I hadn’t heard from since June. She wanted to join the SRF Facebook Missense Group, so I asked for the variant, which she kindly sent. I replied, “Wait, your daughter’s report matches Jaxon’s.” She said, “I know! I tried to reach out to you in July when I found his variant in the closed Facebook group.” We quickly shared notes about our children. Marta shared that there were other families residing in Canada (1), Czech Republic (1), France (1), Germany (2), Portugal (1), Russia (1), and the United States (2)—a total of nine patients. Recently, an additional patient was identified in South Korea. The variant, p.Gly344Ser, is the single largest missense variant, with most patients verified by genetic reports and a few published in the literature. Read more on the blog.

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

You have to start somewhere, even if it’s just a local family meet-up. In 2019, we held the first SynGAP Research Fund Roundtable as part of the American Epilepsy Society (AES) meeting in Baltimore, with 100 people attending. Inspired by the Dravet Syndrome Foundation, we continued with virtual scientific roundtables in 2020 and 2021 to maintain momentum. Under Vicky Arteaga’s leadership, SRF added a Spanish-speaking scientific meeting. As the number of scientists and families grew, the roundtable in 2022 in Nashville became a two-day conference, including a family day. In 2023, in Orlando, with four years of funded research coming to fruition, the two-day format continued with increased sponsorship support. It is with incredible persistence, hard work, and support from many that we continue to evolve and succeed.

Could you provide insights into the challenges you’ve encountered while advocating for individuals with a SYNGAP1-genetic variant? How have you managed to overcome these challenges, and what lessons have you learned along the way?

Since our diagnosis, the main focus of treatment discussions has been on protein-truncating variants (nonsense and frameshift variants). I advocate for SYNGAP1, but my child is often not the focus. With 20% of SYNGAP1 patients having a pathogenic missense variant and 72% of all variants classified as variants of uncertain significance (VUS), SRF initiated the SYNGAP1 Missense Analysis, Research, and Therapeutics (SMART) Project to resolve the structure-function impact and identify treatment options. This project was launched with the generous donations and fundraising efforts of the Nordmoe and Goretski families.

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?

“A rising tide lifts all boats.” SRF quickly learned that collaboration with other patient advocacy groups is a force multiplier. Collaborating with organizations like Simons Searchlight, Global Genes, COMBINEDBrain, AGENDA, and the EveryLife Foundation means working with talented leaders to advance research together rather than alone. This approach accelerates growth and improves the quality of life for our patient community. I’ve had the privilege of being a part of and seeing the evolution of Simons Searchlight in the ASD and rare disease spaces.

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

My mantra is “Connection is Everything.” In the early years, you think your child will grow out of delays, and then you receive a genetic diagnosis that means your child will be impacted for life. This can be a very sobering moment. It’s not the life you envisioned. But when you find a community of others like you, facing the same challenges, you know you’re not alone. For the SYNGAP1 community, know that SRF, with a board of families and volunteers, is fighting every day to improve the quality of life for your child and you. I’m grateful and honored to serve with so many who are making a difference.

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

We produced a short film about Jaxon and our family—please watch it to learn more: Connection is Everything – Hidden in the Genes. I want to thank everyone who invests in our children’s future by donating to fund research—we couldn’t do it without you. S1RD represents 1-2% of those with intellectual disability, but we are still significantly underdiagnosed due to limited access to genetic testing; we need to find more patients. To learn more about the Syngap Research Fund and S1RD, please visit our website at curesyngap1.org.