Celebrating Rare Disease Day with the Rare & Ready Coalition
Every year on the last day of February, Rare Disease Day reminds us of the shared responsibility to ensure timely access to care for the millions of individuals living with rare and genetic conditions. For many families, that responsibility is deeply personal. For one family in Virginia, it meant waiting two years for answers their child needed from the very beginning.
“As a parent of a child with a rare disease, tuberous sclerosis complex (TSC), I will tell you that life is not easy,” said Lisa Moss, a mother in Virginia. Her son was not diagnosed until he was two years old.
Before his diagnosis, he experienced thousands of seizures. His childhood has seen multiple brain surgeries, hospital stays during holidays and birthdays, learning disabilities, and serious complications affecting his kidneys and development. On two occasions, his parents held his hand in a hospital, unsure if he would survive.
“This is a reality nobody should have to endure. My heart aches when I hear of babies and children not getting treatment until much later than they should, especially when that delay can lead to permanent damage.”
Stories like this underscore the importance of early diagnosis through newborn screening, and are why advocacy organizations such as the Rare & Ready Coalition have come together to push for change.
Screened conditions recommended by the Recommended Uniform Screening Panel (RUSP) vary by state. Among the 3.6 million U.S. children born each year, these screens test for less than 1% of rare diseases. Many states even omit conditions that have FDA-approved treatments.
The Work of the Rare & Ready Coalition
In Virginia, the Rare & Ready Coalition has worked to build support for a bill that will modernize newborn screening policies and support earlier diagnosis of rare diseases, such as the one affecting Lisa Moss’s son. Our collaborative work included a webinar that made the case for newborn screening expansion and sustained engagement with Virginia elected officials.
The bill, HB 433, updates state law to reflect medical advances, creates a pathway to consider non-RUSP conditions, and establishes a horizon-scanning process to identify emerging conditions for review. It recently passed the House unanimously (99–0) and is now before the Senate.
“Thank you for the impactful work you do in a time when the headwinds are growing stronger by the minute for those touched by rare conditions.”
HB 433 exemplifies the coordinated advocacy, education, and partnership that Rare & Ready engages in to remove barriers to care by advancing policies in our priority areas:
- Newborn Screening
- Prescription Drug Affordability Boards (PDAB) & Patient Access
- Copay Accumulator & Patient Cost Protections
- Access to Specialized and Timely Care
At Rx4good, we’re proud to mark Rare Disease Day by celebrating the impact of the Rare & Ready Coalition on those affected by rare diseases. Our model is built on connection, education, and action, equipping advocates of all sizes to engage effectively.
“For small nonprofits with no dedicated advocacy staff, we appreciate all that you do to keep us informed and engaged on critical issues.”
This Rare Disease Day, we invite you to learn more about what’s possible when we work together. Visit www.rareandready.org to explore the coalition and get involved.
Formed in 2022 through a collaboration between Rx4good and our clients, the Rare & Ready Coalition includes 115 nonprofit member organizations working together to improve the lives of the rare disease community. It reflects the Rx4good approach — collaborating to develop creative strategies that address real needs.
- Email us about the Rare & Ready Coalition: kari.lato@rx4good.com
- Learn more about Rare & Ready
