VCU Medical Center Health and Wellness Library programs raise awareness of rare diseases
February is Rare Disease Month to build awareness of rare diseases and strengthens connections among rare disease patients and caregivers. Patients with rare diseases have a difficult time finding an accurate diagnosis, have few or no Food and Drug Administration treatment options, have to travel long distances to visit disease specialists, often have trouble finding information about their diseases and experience many other obstacles.
The Health and Wellness Librarian, Dana Ladd, Ph.D., and Health and Wellness Library Assistant Jackson Wright collaborated with Alex Ratti, M.S., rare disease patient advocate and Co-founder and CEO of Light Switch Bio to raise awareness of rare diseases.
Dr. Ladd wrote this round-up of the VCU Health and Wellness Library’s Rare Disease programming.
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For Rare Disease Month 2025, Ladd, Wright, and Ratti planned a series of four rare disease weekly presentations in February. Ratti, whose mom suffered from an ultra rare skin disease, pityriasis rubra pilaris said, “Growing up, my mom struggled with a rare disease, and I spent a lot of time trying to understand why doctors couldn’t help her. What I learned is that families affected by rare diseases mostly face the same issues with health care as everyone else but what sets them apart is that rare diseases tend to be overlooked and understudied.”
Patients with rare diseases and their families lack resources those with more common diseases take for granted – like doctors being familiar with the disease. Patients with rare diseases must navigate the gaps they experience, which can lead to vicious cycles of unmet needs. This not only impacts families affected by rare diseases, but everyone who relies on our health care system, because while these diseases are individually rare they collectively impact 1 in 10 people and represent an economic burden of about $1 Trillion per year according to a recent study by the EveryLife Foundation. Unfortunately, innovators working to address those gaps face similar issues, which reinforces that status quo of being overlooked and understudied, and suggests that focusing on the needs of people affected by rare diseases may be the most efficient path to improving healthcare for everyone, and raising awareness of this problem is the first step to solving it.
The February programming was designed to inform patients and health care professionals about rare diseases.
1. The first session held was “Patient Stories.” Two patients with rare diseases talked about their experiences dealing with rare disease and caring for their children who also have the same diseases. Attendees shared their stories and asked questions.
2. Dr. Winston Yan brought to light the challenges of developing drugs for rare diseases in the second session. Dr. Yan is a physician scientist and genome engineer motivated by using genetic medicines to treat patients, particularly those with rare genetic diseases for which no treatments exist. He is the Founding President of the N=1 Collaborative (N1C), and Co-Founder and Director of Clinical Development at Arbor Biotechnologies, working in both biotech and academic/nonprofit settings to create new treatments for patients.
3. The third speaker in the series was Joff Masukawa, the founder of Diligentia Strategy, a life-sciences consultancy specializing in development of commercial strategies and tactical plans for manufacturers of rare orphan and specialty drugs, cell and gene therapies, digital therapeutics and other emerging medical innovations.
Joff talked about his work supporting the rare disease community, including the obstacles and opportunities, and how to maximize the probability of translating a medical innovation to market.
4. In the final program, Tiffany Kimbrough, M.D., Medical Director of the Mother-Infant Unit at VCU Health talked about her work supporting children with rare diseases, the difficulties that physicians face addressing the complex and special needs of these patients, and how physicians can work with patients’ families to ensure they get the best care possible.
These sessions on Zoom were held Wednesdays at noon to serve patients, caregivers, clinicians and researchers. Links to rare disease information resources were distributed during the Zoom session via chat and sent in an email out to attendees following the programs. Attendees were also referred to the Rare Disease Information Toolkit found at: https://guides.library.vcu.edu/rarediseases
To learn more about rare diseases and find reliable information, visit the Health and Wellness Library on the ground floor of the VCU Health Gateway Building or email [email protected].
A partnership of VCU Libraries, VCU Health and the MCV Hospital Auxiliary, The VCU Medical Center Health and Wellness Library is a library for patients and family members to find reliable consumer health information written in a level they can understand and use to make informed health decisions. The Health and Wellness Library conducts health and wellness programming throughout the year on a variety of health topics including rare disease speaker events and classes on finding consumer health information.
“Patients and their family members with rare diseases often visit the Health and Wellness Library to find information about their rare diseases. It is difficult to find reliable consumer health information about rare diseases, particularly for those that are very rare,” said Ladd. It is important to connect those patients with information they can understand to learn more about their diseases.”