Paulina Polanco is a sibling to twin sisters, Libertad (Libby) and Esperanza (Espy), with SYNGAP1 and a volunteer for both SRF and Fondo de Investigación Syngap. In addition to sharing her observations from the SYNGAP1 Conference 2023, hosted by SRF, she also wrote about SYNGAP1 advocacy in SRF – Our Voice is Getting Louder for SYNGAP1!
(Please note: a link to videos of all Family Day sessions will be included here soon!)
Year after year, SRF delivers the message of hope and inspiration to the rapidly growing SYNGAP1 community as well as the extensive group of researchers, scientists, and doctors who work tirelessly to discover more about SYNGAP1 and develop a cure.
Last year’s conference was the first SRF conference I went to. I attended with two of my sisters. My parents stayed home with my other two sisters, our Syngapians. This year, the three of us had the privilege of attending with our parents which was extra exciting. Coming in and seeing so many familiar faces, and meeting so many people who I knew online but had yet to meet in person, was really nice. It’s our community filled with people who know our stories because theirs are so similar. It felt like seeing your family during the holidays!
Seeing and hearing from all of the professionals who are working together and putting so much effort into finding therapies, treatments, and a cure is always incredibly touching. Some of them don’t even have people in their personal lives with diseases and are working with us out of pure goodwill. The people here have hearts of gold. They take time to listen and get to know the families that their work directly benefits, and they listen to why their dedication means so much.
During a socializing event after the first night, a researcher came up to my dad, my sister, and me, and we chatted about our lives, his work, our families, etc. On the second night after family day and during the dinner event, a genetic counselor sat at the table with my family and me. It turned out that she lives not too far from us, and just like the previous night, we had great conversations with her about anything and everything. It felt like talking to an old friend, though we had just met her. It was beautiful to be able to have regular conversations with both of those researchers and touch base person to person, as well as explain to them what it’s like living with someone with the rare, epileptic, genetic disease they work with.
During Family Day, we heard from patient registry and data collection companies such as Ciitizen, Rare-X, and Simons Searchlight. We heard from Children’s Hospital of Philadelphia, which is conducting a natural history study on SYNGAP1, and we heard from professionals who have found things that work for some Syngapians, such as keto diets and ABA methods. All of these serve as guides for how to help the research advance as families, and tips for what you could try with your Syngapian if there is a certain area you’ve been struggling with.
Family stories came right after lunch. This is the session during which we all laughed together, cried together, felt inspired, and the most connected.
We told stories of heartbreak, with endings of hope and perseverance. We heard from a variety of SRF families – newly diagnosed, a parent of an older Syngapian, Moms, Dads, a Grandpa, and I shared some of my story as a sibling. Though each was unique, it was clear that along with everyone in the room, we share the same struggles, joys, fears, and hopes. It was also a great reminder that every family’s story is worth telling, not only to strengthen our community but also to help us all cope every day.
The main takeaway from the day was that our participation as families in the SYNGAP1 world is vital. We are so fortunate to have research being conducted on our rare disease, and even more lucky that it has advanced as much as it has in such a short amount of time. Our participation in the studies is crucial. Our stories are essential. We all play an important role in making our community known and supported. We are all here for each other, and we are in it together.
During the two days, I was so pleased to see how many families brought their Syngapians along. It was a beautiful visualization of why these conferences are held, and why this community exists. We convene every year to share scientific findings, share stories of our parallel paths, and we leave feeling heard, inspired, and hopeful for the future. We all want the lives of our Syngapians to be as easy and joyful as possible, and we all hope for a cure.
All in all, the SRF Conference remains a beacon of hope for our community. It’s where you see in real-time and in the flesh, all of the hard-working, dedicated individuals who are putting their hearts into finding treatments and a cure for your Syngapian, mine and theirs. It’s a warm place of acceptance, filled with love and a feeling of family. You can share your experience with anyone in the room, and they’ll know what you’re talking about, even if it’s the first time you’ve met. There’s no need to explain what SYNGAP1 even is. There’s no need to explain what the difficult days are like because they understand, just as they understand the love and joy you feel from seeing your Syngapian happy.
To anyone in the SRF community reading this, I hope you attend the SRF conference in 2024. I hope you go to hear about the work being put into the research in person. I hope you go to meet all of the families that are like yours.
Living with Syngapians isn’t easy. You deserve to feel supported, understood, and hopeful. We are all ready to hear about your journey and the resilience and growth you’ve experienced throughout all of it. If I haven’t met you yet, I hope to see you in Los Angeles at the conference in 2024!