The Rare Disease Council (Council) is tasked by the Code of Virginia (§§ 32.1-73.14 through 32.1-73.17) with advising the Governor and the General Assembly on the needs of individuals with rare diseases in the Commonwealth, identifying challenges that such individuals face, funding research related to rare diseases, and funding supports for persons with rare diseases. The Council is to provide a report to the Governor and the General Assembly each year by October 1 summarizing the activities and recommendations of the Council, and the status of the Rare Disease Council Fund (Fund). The Council held four quarterly public meetings and one public hearing during this year’s reporting period (July 2022 through June 2023), in which the Virginia Department of Health (VDH) provided staff support. Findings from the Council are listed below.

FINDINGS

The Council does not have formal recommendations at this time, though it did note a series of findings based on presentations, discussions, breakout sessions, and comments from its meetings this year, as follows.

1. Access to care can often be a challenge for individuals and families affected by rare diseases. This can include access to primary care providers, specialists, care coordination, and insurance coverage. Access to care can be more of a challenge for those living in rural areas or areas without access to academic medical institutions. Telemedicine is one element that may provide increased opportunities for individuals with rare diseases to access specialists, especially for those with limited mobility or those living in rural areas or far away from academic medical institutions. The Council discussed potential benefits for individuals with rare diseases if Virginia were to join the Interstate Medical Licensure Compact.

2. Transitioning from pediatric care to adult care can also be a challenge for individuals and families affected by rare diseases. Individuals may lose services through Medicaid or the educational system when becoming adults and may also lose access to healthcare providers familiar with treating rare diseases. Care coordination services, especially as children age into adulthood, may assist individuals with rare diseases with a smoother transition from pediatric to adult medical care and support services. The Council discussed potential benefits of increasing access to care coordination services for individuals with rare diseases.

3. The Council is planning to conduct a survey to learn more about the needs of individuals with rare diseases in the Commonwealth and the challenges they face. The Council discussed the need to learn more about the scope and impact of rare diseases in the Commonwealth and determined that a survey of individuals affected by rare diseases would be an effective way to gather this information. The Council is currently in the planning stages of this survey, using a survey developed by the Minnesota Rare Disease Advisory Council as a reference (Bogart, K., Hemmesch, A., Barnes, E, et al., 2022). The survey will likely take some time and funding to develop, so the Council will continue to work on this effort in the coming year.

4. In order to design, conduct, and analyze the survey, the Council will likely need funding. The Council is seeking guidance on the Fund and will work with VDH staff over the coming year to develop governance for the Fund.