SRF Shining a Light on SYNGAP1 | Rare Disease Week On Capitol Hill | February 2024

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Suzanne Jones is Chairperson of SRF’s Board of Directors and mom to Jansen, whose 2021 diagnosis of SYNGAP1-Related Disorder allowed her family to transition from blindly seeking answers to proactively searching for a cure.

Suzanne’s SRF Bio: https://curesyngap1.org/team/board-members/suzanne-jones/
Jansen’s Journey: https://curesyngap1.org/syngap-warriors/jansen/


As I reflect on the 2024 Rare Disease Week on Capitol Hill, my primary feelings are gratitude and awe. This annual week in Washington, DC hosted by EveryLife Foundation for Rare Diseases, is a must on your bucket list if you care about anyone impacted by a rare disease. I walked away grateful for time well spent, an enhanced understanding of legislative issues facing our community, and newfound allies in the form of other advocates who traveled from my home state of Georgia and with whom I bonded over our shared rare disease interest.

SRF Travels to Washington, DC
I felt a sense of reverence being at the Capitol, despite having visited DC many times. Witnessing the magnitude of our government as we traversed building after enormous building surrounding the Capitol and weaved through crowded halls, filled with people working and visiting as advocates, was awe-inspiring. Also eye-opening and impactful was the experience of accompanying one of my new Georgia friends who required a handicap-accessible taxi and entry/exit to buildings and their floors.

Our groups of state delegates walked to and from Capitol buildings with this impressive view as a backdrop.

Sunday

SynGAP Research Fund’s first Board Retreat was planned so that we would be in DC on the eve of the week’s advocacy initiatives. I decided to stay longer and attend some of the Rare Disease Week events to understand the legislative hurdles that rare diseases face. I was further incentivized by the anticipation of seeing other SRF representatives who would be there. Heading to Washington, I had no idea what to expect. All I did beforehand was register on EveryLife’s website, book a flight and hotel, and briefly refresh my knowledge of whom the state of Georgia has elected to Congress. Conveniently, EveryLife Foundation took care of the rest!

SRF Board of Directors Retreat

Rare Disease Week on Capitol Hill Agenda | EveryLife Foundation for Rare Diseases

  • Sunday, February 25, 2024:  Rare Disease Documentary Screening and Reception
  • Monday, February 26, 2024:  Legislative Conference 
  • Tuesday, February 27, 2024:  Meetings with Members of Congress on Capitol Hill
  • Wednesday, February 28, 2024:  Achieving Equity in Rare Disease Roundtable + Rare Disease Congressional Caucus Briefing + Rare Artist Reception
  • Thursday, February 29, 2024:  Rare Disease Day at NIH (National Institutes of Health)
  • Friday, March 1, 2024:  Rare Disease Day at FDA (Food and Drug Administration)

Monday

On Monday morning, our group walked over to the Ronald Reagan Building and International Trade Center to check in for the conference. We jointly represented SRF with our SRF name tags, armed with personal bios, SRF brochures, stickers, pens, and pins to distribute during our Congressional visits on Tuesday.

SRF Representatives:  Jess Johnson (MD), Suzanne Jones (GA), Nancy Kesler (NJ), John Hill (NJ), Marta Dahiya (TX), Kathryn Helde (WA), and Victoria Arteaga (FL)

Monday at the Legislative Conference included various speakers discussing legislative “asks” promoted by EveryLife Foundation. These included: 

  1. Supporting the Creation of an Interagency Coordinating Committee for Rare Diseases – collaboration across HHS (Health & Human Services) agencies (FDA, NIH, CDC, CMS, NCATS, et.) will elevate awareness of rare disease issues and ensure effective resource utilization.
  2. Co-sponsoring the Accelerating Kids’ Access to Care Act ((S. 2372/H.R. 4758) – this allows pediatric providers to enroll more efficiently in multiple state Medicaid programs for 5 years, positioning them to provide needed care across state lines.
  3. Co-sponsoring the Creating Hope Reauthorization Act (H.R. 7384) – reauthorization will ensure continued incentive for companies to invest in rare disease drug development.
  4. Co-sponsoring and Advancing the Safe Step Act (S. 652/H.R. 2630) – this allows patients to be given physician-recommended drugs, rather than try and fail an insurer-preferred medication.
  5. Joining the Rare Disease Congressional Caucus – bipartisan Congressional group that works to raise awareness of rare diseases.

Don’t know anything about these important legislative “asks”? We didn’t! But after a day of speakers, reviewing information in the provided booklets, meeting with our state’s advocates, and spending time crafting our individual “asks,” we were ready to share our stories and advocate for Congressional support on Tuesday. It was impressive to see how patients, parents, and families prepared for Tuesday’s meetings with elected officials. In addition to brainstorming with our SRF crew, it was helpful to join state-specific breakout sessions. The best advice provided was to simply tell your story.

In addition to EveryLife’s suggested “asks,” our SRF delegation also chose to add an “ask” that we took from the Epilepsy Action Network and Rare Epilepsy Network. We requested that our legislators consider joining the Epilepsy Congressional Caucus. It was launched in February 2023 in the House and February 2024 in the Senate to raise awareness about epilepsies and implement meaningful policies.

SRF nametag
SRF bio
Conference booklet
Monday’s Legislative Conference at the Ronald Reagan Building and International Trade Center

Tuesday

We implemented what we learned on Monday by visiting our home states’ offices on Tuesday. I visited five Senators’ and Representatives’ offices accompanied by ten other rare disease advocates from Georgia. Also joining our group was a Meeting Lead from Georgia who has been advocating on the Hill since 2009! Assisted by an Advocacy Day app with times, locations, maps, and other pertinent information, we were educated and supported every step of the way.

Each office visit was limited to 15-30 minutes, yet we were able to connect and work en masse to impart our “asks” and share our stories. We acted as a cohesive unit representing unique rare diseases but with a common goal of bolstering legislative support. The individual Congressional meetings were informal and brief, so I spoke quickly and handed out SRF materials as I departed. Most of us met with Legislative Assistants, but Marta Dahiya met with a well-known Senator, Ted Cruz.

Sharing our stories with a Georgia Congressional Legislative Assistant
Marta Dahiya and Senator Ted Cruz (R-TX)
Suzanne Jones at a Georgia Senator’s office

Wednesday

While most of us departed DC after Tuesday’s Congressional meeting, Victoria Arteaga  attended Wednesday’s Roundtable presentation:  Rare Disease Access and Spending Inequities in Healthcare & Treatment Development:  Key Achievements & Possibilities Ahead.

In this meeting, patients continued to share their personal stories in support of the specific legislative “asks”. I am thankful that SRF had some representation on Wednesday since I can see that spreading awareness of SYNGAP1 is the only way we will be noticed. Unfortunately, we were not able to attend the NIH on Thursday or the FDA on Friday on behalf of SRF, which were missed opportunities. Those meetings need to be a future goal for SRF representation!

Summary

This trip fostered a deeper understanding of the challenges faced by this community, connected us with others fighting similar battles, and solidified our bond as volunteers. While a single voice may not move mountains, the collective force of advocates can. As we reminded Legislative Assistants, policy decisions directly impact the lives of our loved ones – the very reason we stood before them. Effective policies can improve treatment, lead to cures, and lighten the burden on families, healthcare systems, and communities.

Advocating for rare diseases in DC left me hopeful. Diagnoses are coming faster, and families are finding answers. For my family, identifying SYNGAP1 ended a lengthy diagnostic odyssey and opened doors – to support groups, research, and advocacy. Knowing the gene is key. It’s why I, along with our diverse, SYNGAP1-united SRF family, went to Capitol Hill. We may have different backgrounds, but our fierce love for our children unites us.

Victoria Arteaga’s social media post during our time on the Hill best articulates our emotions, “Life has a way of leading us to unexpected places and experiences, such as advocating for causes we never imagined we would. Here we are, connecting with and being inspired by countless individuals in the Rare Disease community.” Unexpected and unimagined, but a moving opportunity indeed.

Still not convinced? Here are other posts to drive this point home. I hope to see you in DC in 2025!

SRF – Our Voice is Getting Louder for SYNGAP1!
Rare Disease Day 2024 – what is it & how can you help SYNGAP1?
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

Hundreds of Advocates at EveryLife Foundation for Rare Diseases’ Legislative Conference for Rare Disease Week on Capitol Hill (February 26, 2024)