SRF - Our Voice is Getting Louder!

Paulina Polanco, Sibling to twin sisters with SYNGAP1, shares her personal experience attending a recent conference on behalf of SynGAP Research Fund (SRF).

Getting Involved

Last week, I was invited by Victoria Arteaga to go with her to the Congress of the Mexican Society of Pediatric Neurologists. I had expressed my interest in becoming more involved with SRF and volunteering more of my time for the organization, and immediately they began to spring offers for me. The name of the congress itself sounded so official, so I knew it was a big deal for us to go.

As a SYNGAP1 sibling who mainly focuses on helping care for my sisters, I’m not as well-versed in scientific terminology, or even SYNGAP1 science for that matter. I realize that as a volunteer with SRF, I should be more familiar with these kinds of things – and I’m working on that now – but before this, I only knew SYNGAP1 was a rare genetic disease that affected my sisters and many people like them in very similar ways.

Preparation 

Leading up to the congress, I didn't really think much about it. I was just preparing to be in a professional setting with doctors, scientists, fellow advocates, etc. I didn't imagine the conversations that would be taking place and the space I would be taking up. I didn’t consider how my voice would fit in or even matter.

Arriving at the congress, I realized we were going to set up a table with pamphlets and brochures that detailed what SYNGAP1 is and what SRF is about. I realized I would have to talk more in detail about that to the doctors and scientists that would come up to our table and ask for more information. The information in the brochures and pamphlets was as new to me as it would've been to them!

Truthfully, I was unprepared, not only informationally, but socially. I spent a lot of my time at home caring for my sisters and my niece, and the majority of any daily socializing I did was with my family. Mingling and networking are not my strong suits. Add science— a subject I know a limited amount about— and have it all be in Spanish— which is only my secondary language—and it becomes incredibly daunting and intimidating, even a bit paralyzing.

Self-doubt

Naturally, I felt out of place and began questioning my being there. I was quiet and afraid to talk to anyone, trapped in my own head. Vicky helped me by practicing terms with me such as “encefalopatía epiléptica de origen genético” and telling me basic knowledge like SRF being a non-profit, parent led organization, and the growing number of SYNGAP1 patients globally. She was easy to open up to, and she reminded me that it’s okay to not know everything. This was an opportunity to learn and see what the professional world of neurogenetic diseases is like.

People would come up to talk to Vicky, and I would feel the nerves activate as soon as I saw them heading in our direction. I wondered if what I said made sense, if I was able to engage with them enough or whether I was adequately explaining what the disease was. I was worried about being sociable enough, friendly enough, sounding smart enough. I worried that I wasn't qualified.

Inspired To Action

By the second day, they brought out our SRF banner. It was lined with pictures of Syngapians, and I saw Amelia, Vicky’s daughter who I had heard so much about. And I saw my sisters. Seeing their faces on that banner, so far from home and so far outside of my comfort zone brought a small piece of home back to me. It reminded me what I was there for and what I was doing all of this for.

I couldn’t allow my insecurities to get in the way of what mattered the most here, which was creating awareness in different parts of the world for families like mine … for families that don’t fully understand what is going on with their loved ones and need proper help and support for their condition, like my family needed … for doctors who are not yet aware of this disease and may have a SYNGAP1 patient —or three— with families behind them in need of support.

Confidence Grows

Little by little, I started to ease up and realize that my seat in this congress is just as important as the doctors and researchers. Like Vicky, I have experience actually living alongside SYNGAP1. I have seen what the disease is first hand in my day to day life. I love two people with the disease with all my heart, and have a very personal perspective about what it’s like witnessing the way it affects them. I remembered that my voice mattered and that knowing about genetic tests, therapies, scientific terms, the research being done, the findings, and hearing people’s stories are only a few of the many very valuable assets I could gain from this.

From that point forward, instead of being glued to my chair, I would stand up and listen in on the conversations about epileptic encephalopathies, about how to raise engagement, about the issues with access to genetic tests in other countries, about creating awareness, etc. and I was given a space to listen.

Spreading Awareness

On the second to last morning, Vicky and I sat down for breakfast and a neurologist and a geneticist, both from Chile, joined us. They talked about the amount of SYNGAP1 patients in Chile and the need for more research, more patients diagnosed, and more accessibility to genetic testing. They started brainstorming ways to improve these things, and coming up with plans of action. A new project for SYNGAP1 patients in Chile was born, all over a cup of coffee. 

On the day of the SYNGAP1 presentation, Vicky spoke about her family’s journey with epilepsy and SYNGAP1. She talked about the importance of increasing patient numbers, the SYNGAP1 timeline and how much awareness has increased, and mentioned the medical research spaces where SYNGAP1 is showing up. Then our Chilean geneticist and neurologist friends from the morning presented a more in depth look at the genetic and neurological effects of the disease.

After the presentations— which took place in front of a live audience and a virtual audience, the virtual part which will be archived for anyone who may have missed it to watch in the future— a doctor from Mexico approached Vicky with news that he had three SYNGAP1 patients. Another doctor approached Vicky with interest in presenting SYNGAP1 to her colleagues at her university in Boston, Massachusetts. Another approached to say he suspected some of his patients may be Syngapians. Our Chilean geneticist friend expressed interest in my own family’s case of fraternal twins with the same de novo SYNGAP1 mutation! After just one presentation in this congress filled with doctors and scientists, we raised awareness for more potential patients, and more researchers that may be interested in studying our cases.

The Value Of Participation

Is it worth it for SRF to participate in these types of events? I would say yes, absolutely, without a doubt! It’s worth it as an organization of patients to speak about our experience, to share personal stories, and to show how important the work is that these doctors and scientists do. It is also imperative that they continue to do it. And with more awareness of the disease, there will be more studies, more funds, and more support.

It is important for us as SYNGAP1 families to go to these spaces and witness how many people care. We learn about other diseases similar to SYNGAP1 and see what they’ve done to raise awareness, grow their organizations, and talk about the challenges and triumphs their families have faced. By doing this, we get to branch out of our own tiny pockets of the world.

Raise Our Voice, Change Our Lives

It reminds me of the scene in Horton Hears a Who!, where the whole town living in the dandelion gather their loudest speakers, their loudest trumpets, horns, megaphones, voices, from the smallest to the largest, from the youngest to the oldest, as they all come together to shout “We are here!” What starts out as a small whisper is soon heard by the people who have the capacity to change the trajectory of their lives.

We are here, and our numbers may be small now, but we are growing, and our voices are getting louder!

Read Libby & Espy’s Warrior story here.