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 three quarterly public meetings from July 2023 through June 2024, for which the Virginia Department of Health (VDH) provided staff support. The quarterly meeting planned for August 17, 2023 was cancelled due to a lack of quorum. Findings and recommendations from the Council are listed below, and an update on funding is provided in the final section of this report.

FINDINGS

Based on public comments, presentations, and discussions from the Council’s quarterly meetings, the Council identified several findings related to the needs of individuals with rare diseases, challenges such individuals face, and the role of the Rare Disease Council in supporting individuals with rare diseases, as follows:

1. There are several emerging resources for providers related to rare disease that aim to help increase providers’ ability to diagnose and treat rare diseases. These include: a year-long rare disease clinical research program; the use of GeneClips, an app that shares genetic information on rare diseases that both clinicians and those with rare diseases can access; and the use of RareCAP, which is an online warehouse of clinical care protocols for rare disease patient care that could help support primary care providers.

2. The National Organization for Rare Disorders (NORD) publishes a state report card yearly, which focuses on nine distinct issue areas. The Commonwealth received a C or fail in three issue areas in the most recent published report card: medical nutrition, protecting patients in state regulated insurance, and telehealth. The reasoning cited was: Virgina’s mandate for medical nutrition having limitations, Virginia not taking enough action to mitigate the expansion of short-term, limited-duration health plans (STLDIs), and Virginia’s lack of participation in the Interstate Medical Licensure Compact (IMLC), which provides access to telehealth services across states.

3. The Council heard from several stakeholders that more timely diagnosis of Krabbe Disease would increase supportive care for those individuals who have Krabbe. While Krabbe was not recommended to be added to the Virginia newborn screening panel in 2015 and 2020, Virginia will be revisiting adding Krabbe to the state’s panel, given that Krabbe was recently added to the national Recommended Uniform Screening Panel (RUSP).

4. The Council is not well known in the rare disease community yet. To be able to better provide insights to the Governor and the General Assembly regarding the needs of Virginians with rare diseases and their caregivers, the Rare Disease Council needs to raise awareness about its work and build relationships with the rare disease community. To accomplish this, the Chair and Vice-Chair plan to conduct statewide visits in four regions across the state, beginning with two of the main hospital systems in Southwest Virginia. Information gathered will be included in the 2025 Rare Disease Annual Report. The Council also discussed the need to connect with sponsors and/or state legislators to bring awareness to the work of the Council, though a formal action plan has not been established.

RECOMMENDATIONS

The Council developed two recommendations based on public comments, presentations, and discussions from its quarterly meetings this year, as follows:

1. The Council recommends that the Governor and the General Assembly reconsider Virginia’s participation in the IMLC. Participation in the IMLC would require the General Assembly to pass legislation to amend the Code of Virginia to authorize the state to join (IMLC, N.D.). The language of the compact must be consistent in each state that joins. Previous legislation to join the compact has been unsuccessful. However, Virginia is now one of only 11 states that have not joined the IMLC: as of November 2023, 39 states, Guam, and the District of Columbia have joined the IMLC (IMLC, N.D.). Virginia’s participation would not only benefit Virginians but would also result in a “pass" on the NORD state report card for telehealth. VDH will consider working with the Department of Health Professions (DHP) to discuss legislative action on this topic, as joining the IMLC would require a change to their section of the Code.

2. The Council recommends that the General Assembly appropriate $20,000 in General Funds to support the work of the Council. Specifically, the funding would be used to conduct a large-scale dissemination of a pilot rare disease survey to better understand the prevalence of rare disease in the Commonwealth and the needs of rare disease patients in Virginia. VDH will consider proposing an agency budget amendment for the next fiscal year to support this work.