Policy and advocacy are essential tools for creating a better future for people living with Gaucher disease. Because Gaucher is a rare condition, the needs of our community can often be overlooked in broader healthcare conversations. Advocacy ensures that our voices are heard, our challenges are understood, and our needs are addressed at every level – from local communities to national decision-makers.
At the Gaucher Community Alliance, we believe that every voice matters. Through policy and advocacy work, we are building a stronger, more informed, and more connected community – one that is equipped to shape a healthier future for all those affected by Gaucher disease. Policy and advocacy work ensures that the voices of patients and caregivers are heard where it matters most. By engaging with lawmakers, regulatory agencies, and healthcare leaders, we help influence decisions that expand access to therapies, protect patient rights, and support continued investment in rare disease research.
You can get involved and help us do this work! It’s crucial in helping us be heard. With the help of the community, we can have a strong voice in:
The Gaucher Community Alliance has been advocating for newborn screening for Gaucher disease in all 50 states. The US Department of Health and Human Services terminated the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) in March 2025. With this termination, no additional conditions can be added to the Federal Recommended Uniform Screening Panel (RUSP). Therefore to expand newborn screening for Gaucher disease, the Gaucher Community Alliance is actively working in numerous states to add Gaucher disease to state panels. See map below for details.
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Early detection matters: Newborn screening enables timely diagnosis, allowing treatment to begin before irreversible damage occurs.
Improved outcomes: Early and consistent treatment can significantly alter Gaucher disease progression and quality of life.
Benefits of newborn screening for Gaucher disease include:
The Gaucher Community Alliance needs patient advocates to help share their stories. If you have a story to share about how a patient’s life would have differed if a newborn diagnosis were available, or if you have a newborn screening success story, please help us advocate for other families.
Patients with traditional Medicare Part A and B who receive enzyme replacement therapy are unable to have home infusion services without cost prohibitive co-payments due to a Medicare home health care prohibition. The Gaucher Community Alliance has active advocacy efforts on Capitol Hill to promote a change to traditional Medicare that allows patients to have home infusions with nursing care. Home infusion is preferred by patients and families for many reasons, including comfort, ease of compliance, less exposure to viruses and bacteria at infusion clinics, and cost savings to the Medicare program. Other disorders have obtained a carve-out from the Medicare program to allow home infusion, and the Gaucher Community Alliance advocates for a Gaucher disease home infusion benefit as well.
Due to the high cost of Gaucher treatments, many of us rely on financial assistance from pharmaceutical manufacturers and other third parties to meet our high insurance copays and deductibles. The value of this financial assistance typically counts toward the health plan’s deductible or maximum out-of-pocket limit. These financial assistance programs offer tremendous relief for the Gaucher community and other rare disease communities by helping with some of the financial burden of our disease.
Insurance companies use copay accumulators to exclude the value of financial assistance from third parties from counting toward the health plan’s deductible or maximum out-of-pocket limit. What this means is that assistance from a pharmaceutical company will not count toward a patient’s out-of-pocket costs, which can make receiving treatment less affordable. These accumulator programs may force patients to switch or stop taking their treatment because they cannot afford their out-of-pocket costs once their financial assistance has been exhausted. Copay accumulator programs disproportionately affect Gaucher patients and others whose conditions are managed or treated by drugs in specialty formulary tiers that require greater cost-sharing by the patient.
While the Gaucher Community Alliance is working with other advocacy organizations to end this plan, we encourage you to advocate on a local level. Use your voice! If you or your family may be affected by copay accumulators, please send a letter to your local congressperson to take action. A sample letter can be found here. How to find your local state legislative officials can be found here.
In addition, if you believe you may be affected by a copay accumulator, please let us know at .
In 2021 the Gaucher Community Alliance held an FDA Patient Listening Session for the nGD patient community. It was a powerful 90 minutes of testimony from three patient families with neuronopathic Gaucher disease, Dr. Ozlem Goker-Alpan, Tanya Collin-Histed of the International Gaucher Alliance, and Cyndi Frank and Aviva Rosenberg of the Gaucher Community Alliance. FDA representatives from many departments listened to the testimony and had the opportunity to ask questions of the presenters. A summary can be found here.
Throughout the year, the Gaucher Community Alliance holds various in-person advocacy days on Capitol Hill and in State Capitals to advocate for the issues listed above. It is a rewarding and empowering experience to share your patient or family story to advance a cause for the betterment of the entire community. Please join us for future days. It is an experience you will not regret! If you’re interested getting involved in our policy and advocacy efforts, email the Gaucher Community Alliance at to let us know of how you’d like to be involved.
Advocacy Day in Boston, MA (2023)
Teen and Young Adult Advocacy Day in Washington DC (2025)
Advocacy Day in Harrisburg, PA (2025)
