Recapping Global Genes staff activities during Rare Disease Week

March 7, 2024

Mackenzie Abramson provides a recap of Rare Disease Day and Rare Disease Week activities in Washington D.C. from February 25 – 29, 2024

by MacKenzie Abramson
Rare Patient and Advocate
Senior Manager of Research Program Communications
Global Genes

It’s 2024, a leap year. The rarest kind of year with the rarest kind of day on February 29th. While many will think of it as any other day, there are 300 million people around the world who know this as a much more substantial day – it’s Rare Disease Day. For these folks, their families, and friends, this rare day is set aside to bring further awareness to the thousands of conditions that impact our communities. In the U.S. the days leading up to Rare Disease Day are spent at Rare Disease Week on Capitol Hill, where patients and advocates alike drive forward awareness, education, and policy changes to better the lives of those impacted by rare diseases.

This year, I was fortunate enough to participate as not only a patient, but the newest member of the Global Genes team. My first day as Senior Manager of Research Programs Communications was on February 14, and less than two weeks later, I was the face of Rare Disease Week for my co-workers. My advocacy extended beyond my personal experience to elevate the mission of Global Genes. Throughout the week I got to take everyone on a behind-the-scenes look at the rarest week on Capitol Hill. In case you missed it, let’s recap.

On Sunday evening, we watched “Bombardier Blood”, a documentary about Chris Bombardier’s journey to climb the 7 summits, including Mt. Everest, while navigating life with hemophilia. After the screening, a panel discussion kicked off the week building connections and getting us ready to share with the government that we, as the rare community are: Unified. Amplified. Stronger than Ever.

On Monday, we participated in the EveryLife Foundation for Rare Disease’s Legislative conference. We spent the day understanding the pieces of legislation we were going to be asking our government to sponsor and then practiced our requests.

Tuesday was my favorite day – Hill Day! Everyone breaks up to cover the hill based on their state and locality. We met with representatives and senators to tell our stories and ask them to support legislation. 

On Wednesday, we met for a DIEA (Diversity, Inclusion, Equity, Accessibility) townhall and then the Rare Disease Congressional Caucus. While these events hold so much value in advancing awareness and support, it was the announcement that came on Wednesday morning that made this entire week everything, and more. 

This year, 2024, not only did Congress decide to hold an impromptu congressional hearing on Rare Disease Day to review 18 pieces of legislation to support those with rare diseases; but the White House also held its first ever Rare Disease Forum. Charlene Son Rigby, the CEO of Global Genes, participated in discussions raising awareness for and addressing the challenges in rare disease at the highest levels of government.

These are unprecedented events that make me believe the efforts of the rare disease community are having a loud and unstoppable impact. 

While the White House Panel was convening, a few of my Global Genes colleagues and I attended two important receptions. The first was the EveryLife Foundation for Rare Diseases’ Rare Artist Reception, where this year’s rare artists’ work was displayed and admired by so many in attendance. Each artist spoke about their work and connection to the rare community, sharing their most personal and vulnerable experiences through their art.

We then jetted off to the Rare Disease Diversity Coalition Reception for the Rise Awards a couple of miles away. We celebrated and honored our friends and allies, the recipients of the 2024 Rise Awards. In this small but mighty community, you know the impact a single individual can have, as evident by one of the Rise Award winners, Shonta Chambers of PAF (Patient Advocate Foundation), having to race from the White House Rare Disease Forum as a speaker to receive her award at the RDDC reception.

The week culminated at the NIH (National Institutes of Health) with a few of my colleagues for Rare Disease Day. Along with so many organizations, we joined the effort to provide support and education to all in attendance. Gina the Zebra made her debut appearance and everyone knew exactly who Global Genes was and stopped by to talk about all patients and research needs. The buzz from this day is still giving me chills. 

Rare Disease Day is over, but it was just the beginning. It was exactly what was needed for this rare year – to kick off the upward trajectory and moment for real change in the rare community. Up next, Global Genes will continue to advance awareness for rare diseases at the Rare Drug Development Symposium 2024 in Philadelphia followed by a Week in Rare 2024 in Kansas City. I can’t wait to see all the patients and allies there to continue our mission!

Global Genes staff around the country during Rare Disease Day

Sravanthi Meka, Senior Manager for Content Marketing, represented Global Genes at Rare Disease Day events at Children’s Healthcare of Atlanta and Emory Healthcare in Atlanta.

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