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 from July 2024 through June 2025, for which the Virginia Department of Health (VDH) provided staff support. Findings and recommendations from the Council are listed below. An update on the Rare Disease Survey and Council funding is provided prior to the findings and recommendations sections at the end of this report.

FINDINGS

Based on public comments, presentations, and discussions from the Council’s quarterly meetings, the Council identified several findings in 2025 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. A summary of the Council’s findings are as follows; additional details on these findings are included later in this report:

1. Individuals with a rare disease(s) who are in need of additional resources or assistance with managing their disease(s) may benefit from contacting their medical insurance company and inquiring about speaking to a case or disease manager.

2. Adjusting cutoffs for homocystinuria (HCU) on the newborn dried bloodspot test could aid in fewer missed diagnoses and better outcomes.

3. The Council gained anecdotal insight into the needs and challenges of those who are caregivers for individuals with rare diseases. Caregiver needs include: the need for compensation as a caregiver, access to respite care, support with housekeeping and food preparation, and access to and coordination between specialists. Challenges include: financial strains due to caregiving demands and limitations for securing employment, and the inability of daycares/schools to handle medically complex children and their equipment. 

4. The Council determined that while there are multiple research programs on rare diseases across universities in Virginia, a major challenge is that research programs and grant funding are not categorized under “rare disease" for research or funding opportunities.

5. The Council’s presence in the rare disease community has grown over the past year, but additional work needs to be done to raise awareness of the Council and its work among the public and state legislators.

6. Medical insurance benefits are dictated by federal and state law or employer groups, and most individuals do not know their benefits. For those that receive initial denials from their insurance, 70% are due to insufficient information, but individuals are not aware of the multiple processes they can take to appeal denials. Understanding insurance coverage and how to navigate it is vital, especially for the rare disease community.

7. Activated PI3K Delta Syndrome (APDS), a rare primary immunodeficiency that is generally inherited and was first discovered in 2013, is only diagnosable through genetic testing. APDS symptoms can include frequent and severe infections of the ears, sinuses, and upper and lower respiratory tracts, as well as gastrointestinal tract issues, nodules in the airway, enlarged tonsils, developmental delay, among others (IDF, 2025).

8. The National Organization for Rare Disorders (NORD) publishes an annual state report card, which focuses on nine distinct issue areas. From 2024 to 2025, the Commonwealth’s state report card remained unchanged in all nine issue areas. The Commonwealth received a C or fail in 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."

RECOMMENDATIONS

The Council’s recommendations remain the same as last year. These recommendations are 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 10 states that have not joined the IMLC; to date, 40 states, Guam, and the District of Columbia have joined the IMLC (NORD, 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 DHP’s 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 and analysis of the Rare Disease Survey to better understand the prevalence of rare disease in the Commonwealth and the needs of rare disease patients in Virginia A large-scale survey dissemination may consist of mailers, flyers, paper surveys, events hosted by the Council, radio ads, and/or newspaper ads and is estimated to cost $10,000-$19,000. Analysis of the survey data by a VDH epidemiologist upon closure is estimated to cost $2,100.