New York State Rare Disease Workgroup

The New York State Rare Disease Workgroup was created in response to legislation passed in New York State (Article 27-L of the Public Health Law). The purpose of the workgroup is to identify best practices that could improve the awareness of rare diseases and referral of people with potential rare diseases to specialists, and to evaluate barriers to treatment, including financial barriers on access to care. The Department will prepare a report based on the workgroup's recommendations.

Members

Workgroup members represent individuals with expertise in rare diseases, including physicians, nurses and other health care professionals with experience researching, diagnosing or treating rare diseases; members of the scientific community engaged in rare disease research; representatives from the health insurance industry; individuals who have a rare disease or caregivers of a person with a rare disease; and representatives of rare disease patient organizations.

List of Current Members

The 18 members are completing the appointment process. The membership list will be posted here once the process is completed.

Legislation: Rare Disease Workgroup

Public Health Law (S07172 / A09132) calls for the Department of Health, in collaboration with the Department of Financial Services, to convene a workgroup of individuals with expertise in rare diseases and prepare a written report summarizing opinions and recommendations from the workgroup.

Public Health Law (S05944-A / A06671-A) extends the deadline for preparation of a written report summarizing opinions and recommendations from the workgroup.

Workgroup Meeting Documents

To be scheduled. Agendas, presentations, and meeting minutes will be posted after each meeting.

Resources

Patients, Families and Caregivers

National Center for Advancing Translation Sciences (NCATS)

NCATS offers free materials and resources to help patients, caregivers, patient support organizations, health care providers and scientists learn about rare diseases and help advance research on them.

Genetic and Rare Disease (GARD) Information Center

Or call GARD at 1-888-205-2331 to speak to an information specialist about rare or genetic diseases in English or Spanish. GARD is an information center designed to provide comprehensive information about rare and genetic diseases to patients, their families, health care providers, researchers and the public.

National Organization for Rare Disorders (NORD)

NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.

New York State Department of Health's Newborn Screening Program

Newborn screening refers to medical tests, the majority of which are genetic, performed to identify babies with certain disorders, which without intervention, may permanently impact newborns and their families. Early recognition and treatment of most of these disorders leads to a better outcome for the newborn. The Newborn Screening Program's goal is to help affected babies live as long and normal of a life as possible.

New York Mid-Atlantic Caribbean (NYMAC) Regional Genetics Network

A network of family groups, health care providers, public health groups, and other partners that work together toward a goal of making it easier for families to connect to the genetic services and information they need.

New York State Early Intervention Program

The New York State Early Intervention Program (EIP) is part of the national Early Intervention Program for infants and toddlers with disabilities and their families. To be eligible for services, children must be under 3 years of age and have a confirmed disability or established developmental delay, as defined by the State, in one or more of the following areas of development: physical, cognitive, communication, social-emotional, and/or adaptive. The Early Intervention Program offers a variety of therapeutic and support services to eligible infants and toddlers with disabilities and their families.

New York State Multiple Systems Navigator

Access helpful health, education, human service and disability information on one user-friendly website. Built for youth, parents, family members and caregivers that rely on supports from multiple child and family serving systems.

Research

NIH National Center for Advancing Translational Sciences

Rare Disease Clinical Research Network (RDCRN)

The RDCRN program is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.

Financial Assistance

Medicaid

https://www.health.ny.gov/health_care/medicaid/ (click on "General Medicaid FAQs" and then click on "What health services are covered by Medicaid?")