Our Reflections on Rare Disease Month
and Our Commitment to the Community
By Tasia Rechisky, Secretary, RNE Board Member
It has been a busy month for Rare New England (RNE) as it has been for many in the Rare Disease community. We are reflecting on this past month, and especially all the events we participated in the past week or so, and are reminded of the importance to continue to grow and progress resources for this community. For us, every day is a rare disease day and we will continue our awareness building efforts wholeheartedly. The events of this month reinvigorated our commitment as we witnessed the passion and stamina of this community- to never give up, despite any challenges that lay ahead.
The last week of February, we attended both the Boston Globe Rare Disease Summit and the MassBio Rare Disease Day event. The Boston Globe event was the first event hosted by this group and included a day full of inspiring speakers. There were sessions on rare cancers, gene therapy, achondroplasia and the impact of rare disease on children. The session on the rare disease diagnostic odyssey especially resonated with us, as it is something that is ever-present and we address through our resources like Rare Connections and the annual conferences. At the Boston Globe event, RNE was also part of the post-event nonprofit networking event where we were joined by fellow rare disease advocates Sarah-Jaana Nodell Sanchez, Bonnie Rayta, PhD, CHSOS-A, and Lexy Bulman. We look forward to future engagement with the Boston Globe and the other organizations we met at the event.
At the MassBio event, we heard several legislative updates and plans from Congresswoman Lori Trahan and a MA rare disease advisory council update. RNE continues to work with the MA advisory council as well as those set up or forming in other states and relay updates to the community. We had a table to share RNE newest initiatives, visited by professionals in biotechs and other nonprofits, students, patients and advocates, coming to learn more. We met some new friends, Ada Lio and Nathan Guo, lovely parent leaders of the ZTTK SON-Shine Foundation who are working on research for ultrarare, monogenic,neurodevelopmental disease ZTTK. Their ability to mobilize around their experience with ZTTK and seek out effective treatments was inspiring.
Rare New England was honored to participate in the BioCT Rare Disease Forum at Jackson Labs in Farmington, CT. This event provided a valuable opportunity to engage with leading experts, researchers, and advocates dedicated to advancing rare disease innovation and care. Discussions focused on critical topics such as Innovation in Discovery & Translation, highlighting the importance of genomics, data sciences, and diagnostics in driving therapeutic advancements for rare diseases. Another key session, Bringing Science to the Patient: Moving Upstream Toward Durable Response and Cures, explored strategies to accelerate the translation of scientific discoveries into effective treatments and long-term solutions for patients. As an organization committed to education, support, and advocacy for the rare disease community, Rare New England was grateful to participate as a patient advocacy organization, foster meaningful collaborations, and stay informed about the latest advancements in rare disease research. Attending this forum supported our mission to connect patients, families, medical professionals, and industry leaders while gaining valuable insights into critical discussions shaping the future of rare disease treatment.
RNE’s advocacy efforts have been in full swing. We have been working with Ultragenyx on their Act for Ultrarare campaign, encouraging policy and legislative change in scientific advancements and the drug development process for ultra rare diseases. We call upon our community to get involved and reach out to us for any further information.Together, we can propel change for the ultra rare communities like ZZTK.
RNE signed onto a letter to the current administration with 209 other organizations to frame the priorities of the rare disease community. The letter encourages affordable healthcare, highlighting programs like Medicaid and Children’s Health Insurance Program (CHIP), and emphasizes research and evidence-based solutions that keeps our community thriving.
In addition to these federal advocacy efforts, we have continued to collaborate with the Patients not PBMs coalitions in Massachusetts and Connecticut. These multidisciplinary organizations work with state legislatures to improve transparency in the drug pricing space to lower costs for rare disease patients. Information about how our community can get involved and/or learn more will be forthcoming.