NYS needs rare disease advisory council

Rare diseases may be rare, but the needs of those living with them are not. Across New York State, thousands of families are navigating the complexities of rare and sometimes life-threatening conditions, often without the resources, information, or support they desperately need. This is why state legislation that would establish a state rare disease advisory council is essential and timely in helping to improve the lives of individuals and families affected by rare diseases across New York.

As founder and chief executive of Believe in a Cure, a nonprofit organization advancing research for FOXG1 syndrome, a rare brain disease that afflicts my son, and providing grants and free mental health counseling to rare disease caregivers across the state, I have seen firsthand the profound challenges facing families in the rare disease community. The uncertainty, isolation, and constant fight for recognition and resources are overwhelming. But one of the most significant barriers we face is the lack of coordinated efforts at the state level to address the unique needs of people living with rare diseases.

The legislation offers a preliminary solution by creating an advisory council to provide much-needed guidance to state agencies and policymakers on how to better serve the rare disease community. The proposed council would convene health care providers, researchers, advocates, and individuals with lived experience to shape policies, identify gaps in care, and ensure that the voices of those most impacted are heard. This is a critical step in ensuring that rare disease patients — who often face significant challenges in obtaining a proper diagnosis, accessing treatments, and finding appropriate support — are no longer overlooked.

A "rare disease" is defined by the National Institutes of Health as a condition that afflicts fewer than 200,000 people in the United States. There are more than 10,000 such rare diseases, affecting some 30 to 40 million Americans. Despite this, resources dedicated to rare disease research, care, and support are disproportionately low. Families often find themselves in a maze of fragmented health care systems, struggling to access specialized care or clinical trials, and facing immense financial, emotional, and administrative burdens.

Establishing a rare disease advisory council would help address these challenges by fostering collaboration between state agencies and the many organizations working tirelessly to improve the lives of those affected. Goals should include improved access to care, faster diagnosis, statewide support systems, fairer and more efficient engagement with health insurers, enhanced data collection and analysis, advocacy for research and treatment development, public awareness and policy advocacy, and looking at the rare disease community more holistically rather than as a myriad of unrelated small-population conditions.

Twenty-nine other states already have forms of rare disease advisory councils, recognizing that no single organization can tackle the complex issues facing the rare disease community alone. Together, we can create a framework of care, compassion, and collaboration that can improve the lives of all New Yorkers affected by these conditions and the family members who care for them — and the initial proposed cost is just $100,000 for administrative support for the council.

Now is the time for our legislators to stand with us and make a meaningful difference in the lives of those who need it most. Let’s take concrete steps to move this important work forward and write a new chapter in the rare disease experience.

This guest essay reflects the views of Scott D. Reich, of Port Washington, whose nonprofit is developing a treatment for FOXG1 syndrome while providing support to the broader rare disease community.