Stefanie Decker is mom to 5-year old Syngapian Saydee. Here, she shares her reflections from the recent SYNGAP1 Caregiver Connect conference.
December 1-2, 2022 will not be soon forgotten in the SynGAP Research Fund (SRF) community. That’s when SRF held a two-day conference, Charting our rare disease treatment path, in Nashville. By the end of our time together, we’d been briefed on leading edge science around SYNGAP1 on the first day (to be summarized in a different blog article), and on the second day we came together as a family like no one could have imagined.
Below are some reflections, summaries of the Caregiver Connect (second day) presentations, and photos of some of the families and Syngapians that were there.
“Accepted.” As I sat down with Effie Parks (rare mom and Once Upon a Gene podcaster) and she asked me what one word I would use to describe the SYNGAP1 conference, I chose acceptance. I traveled 649 miles to be accepted as a mother of a child with special needs, accepted as a parent struggling with grief of the life they thought their child would have, and receiving acceptance for my Syngapian as well. No explanations, no sugar coating it, no trying to find the right words to say, but knowing that the entire time each person was in awe of how beautiful a person my daughter is. Not a single moment was missed connecting with another parent or family member. We talked about the highs, the lows, the similarities and the differences. It always ended with, “I hope we can get our families together one day; I’d love to meet them.”
The day was full of helpful, relevant workshops and presentations.
Becky Sansbury gave a heartfelt talk on reality, resilience and resources. What stuck out to me from her time was how she kept giving us an opportunity to speak to the people at our table and to say the things that we haven’t been able to share with anyone else before. She called this “our safe space.” What a mind blowing concept–that a room full of people that I have never met before and that come from all different walks of life could be my safe space. But she was so right. I have never felt more comfortable in a room full of strangers talking about my deepest vulnerabilities than I did that day. My only wish was that we had more time to do it.
Invitae (Ciitizen), Simons Searchlight, and Rare-X are organizations with registries that collect different but complementary patient data. Together, they provide a deep, comprehensive and rich profile of SYNGAP1 life that will help get us to clinical trial readiness. "These are the three best players in town and our kids deserve nothing less!" says Mike Graglia. Each registry here has vowed to work together to help find treatment for our kids.
Kathie Bishop, Senior Vice President and Head of Rare Disease and External Innovation at Acadia Pharmaceuticals, presented on the distinct stages of drug development with a focus on clinical trials. She reviewed the entire process of getting a drug to market, starting with research and discovery, to pre-Investigational New Drug (IND) application studies, the IND process, the different stages of clinical trials and finally FDA approval and bringing the treatment to market. She emphasized some important concepts such as the Orphan Drug Designation which provides incentives for new rare disease treatments.
Kathie talked about the importance of clinical trial recruitment, where patient advocacy organizations can play a large role, as well as how critical it is to have measurable outcomes that can be tracked in the trial to present to the FDA as an indication that the treatment is working. She provided insight about why certain drugs may be advanced in different countries (e.g. the USA vs Europe or Australia); the regulatory environment plays a large part, among other factors. Finally, she took many questions from the audience, from how long the process may take (Spinraza took 5 years from first human dosing to FDA approval; Kathie said this was very fast) to what families found unexpected or didn't anticipate from clinical trials (lots of appointments, big time commitment).
SRF was honored to have someone with Kathie's level of experience and track record of delivering life changing drugs to market speak at the Caregiver Connect session.
Christian Rubio from Praxis Precision Medicine shared that their SCN2A trial is happening faster than anyone predicted because of their use of data from Ciitizen (see above). Praxis plans to use the same process to make a trial for SYNGAP1.
Jackie Kancir, SYNGAP1 mom and advocate, spoke on behaviors. I’ll admit it was a bit daunting. I wasn’t prepared for seeing a possible glimpse into our future, but Jackie showed us how to advocate for our children. She showed us how she approached medical professionals to show them that SYNGAP1 brains are not like normal, neurotypical brains. She showed us how to prepare for the unknown.
Janie Reade, SYNGAP1 mom and author, took a few moments to read from her newly released book, More of Everything, and there wasn’t a dry eye in the room. What started as therapeutic writing for herself has now become a tool for everyone of us to remember that we are not alone. JR showed us how she learned from her situations, and how we too can find solace in each and every day. Hearing how she has learned to meet her son where he is at and to really focus on enjoying the time with him was a reminder to me to cut out the noise from the outside world and appreciate how beautiful and perfect my daughter is right now where she is at today.
We celebrated with Vicky Arteaga, who shared how Fondo de Investigación Syngap has created meaningful content in Spanish, monthly family meetings, 10 webinars, many family videos, a Scientific Congress in Spanish in 2021, and an in-person family meet up in Colombia this year. There are also plans for a second congress in May and much more to come.
Vicky says, “We are building a network of neurologists in the region, training and participating in regional conferences to promote SYNGAP1 awareness, and promoting genetic testing , diagnosis and research.”
SRF leaders/board members Pavel Gerovich and Peter Halliburton recapped SRF history over the last 4.5 years. Some of the statistics include:
SRF’s managing director Mike Graglia inspired and challenged us all!
"His analogy of SRF is as a home for all of us. I appreciated how he referenced plenty of rooms for us to spread out and settle in and how he invited us to take charge of our own space in this home. It seemed like a perfect analogy of inclusion and of a need for everyone to share their talents and help dig into our efforts to spread awareness, develop community, and investigate drug/gene therapies," says Suzanne Jones, SYNGAP1 mom and advocate.
There are many big things coming in 2023 and we need funds now more than ever! Whether you can raise $1, $1,000 or $100,000 please do so! Facebook birthday fundraisers are such an easy way to raise money and add up over the entire year.
Next year's conference will be held in Orlando, FL on Dec. 1-2, 2023. We we hope to see you all there!
*Pre-register here for 2023 conference info.
Join us in 2023!