During Rare Disease Week 2020, I was honored to have represented SynGAP Research Fund and to make my first visit to Capitol Hill – as a rare disease parent, and as a patient-advocate. I had the opportunity to participate on a panel for the Personalized Medicine Coalition’s (PMC) Personalized Medicine Caucus Briefing, focused on Technologies Advancing the Future of Personalized Medicine, alongside a wildly impressive group of industry professionals: Lance Baldo, M.D., Chief Medical Officer, Adaptive Biotechnologies; Keith Stewart, M.B, Ch.B., Director, Center for Individualized Medicine & Professor of Cancer Research, Mayo Clinic; and Lauren Silvis, Senior Vice President of External Affairs, Tempus. The event was also written up in Genome Web.
So how do I fit into this panel? About a month ago, Invitae, a leading US genetics diagnostic lab, reached out to Mike Graglia, and asked to be connected with me, after Mike and Ashley shared our story, and our SRF fundraiser that we held just following Carter’s diagnosis with Invitae in a meeting this past November. Our family’s diagnostic journey, and our gratitude in identifying a diagnosis resonated with their team, and was shared around the organization. They asked me if I would be open to sharing Carter’s story at PMCs upcoming caucus briefing, to provide a patient-perspective (or in our case, care-giver perspective) on personalized medicine. I jumped on the opportunity.
I made three points about why a precision diagnosis was so important.
- We immediately transitioned from having no idea what was going with out son to having a community of parents who had the same challenges, the emotional support has been a lifesaver.
- Now that we know, we understand which medications and treatments are helpful or contraindicated for Carter. This gives tremendous peace of mind. Also, even though there is not a SynGAP-specific therapy yet, there will be and now that we have the diagnosis we will be able to find out about it.
- Most importantly, we know where to lend our support. I know that the time and money I put into the Syngap Research Fund is going to help my son.
The Congressional Personalized Medicine Caucus was recently established as a bicameral, bipartisan Caucus, created by Sens. Tim Scott (R-SC) and Kyrsten Sinema (D-AZ), and Reps. Eric Swalwell (D-CA) and Tom Emmer (R-MN). This will be an ongoing Caucus, but today’s briefing was an introductory meeting around the benefits of earlier detection, targeted treatment, and improved prevention strategies in personalized medicine.
Both Reps. Swalwell and Emmer have written bills that would call for expanded funding for genetic testing – which is something I am passionate about making available to anyone that needs it —because of the positive impacts that genetic testing and having a diagnosis have made on our family.
Having the opportunity to speak on this panel not only allowed me to share our family’s personal story, but to create awareness for Syngap, and to highlight the fantastic work that is being driven by Syngap Research Fund to accelerate treatments for our children. I spoke to the grants that SRF has made to Drs. Huganir, Rumbaugh, and Holder – and to the research that each has completed to-date – of which the audience and other panelists took note! For instance this link..
Following the panel, I was able to meet quickly with my local Representative, Congressman Van Taylor, as well as a staffer for Senator Ted Cruz, which was also a first!
A special thank you to Invitae & PMC!