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Rare diseases event sheds light on one doctor’s journey as a physician and as a patient

January 14, 2022

Are you or a member of your family or community impacted by a rare disease? Have you had problems with diagnoses, treatment or even securing trusted medical advice? 

People and caregivers who grapple with rare diseases share similar challenges. Learn more about rare diseases and one man’s triumphant journey in this free session Chasing My Cure: A Doctor’s Race to Turn Hope into Action, on Tuesday, Feb. 22 at 11 a.m. via Zoom. The event is free and open to all. 

Author David Fajgenbaum, M.D., MBA, MSc, will discuss his experience living with and successfully managing Castleman disease. Dr. Fajgenbaum was a healthy and athletic third-year medical student when he was stricken with this rare disease that almost took his life. Today, he is Assistant Professor of Medicine at the University of Pennsylvania, Associate Director of the Orphan Disease Center, and is leading research through the Castleman Disease Collaborative Network (CDCN) where he works to improve the lives of patients with Castleman disease and other rare diseases. 

Register for this event to hear his inspiring story and learn more about rare diseases. https://www.support.vcu.edu/event/libraries

This event is organized by the VCU Medical Center Health and Wellness Library’s librarian Dana L. Ladd, Ph.D. Celebrating 20 years, the Health and Wellness Library is a resource for patients, their families and health care providers seeking reliable  information on a variety of health topics including rare diseases. An expert on health information and gaps in information about rare cancers, Ladd explains the intention and meaning for the Feb. 22 program in the question and answers below: . 

What is the purpose of this event? What service do you hope it provides?

February 28, the rarest day of the year, is Rare Disease Day (www.rarediseaseday.org and on social media #RareDiseaseDay). Rare diseases have long been overlooked by the medical and research communities. Rare Disease Day’s mission is, “Raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.” The purpose of this event is to support the efforts of Rare Disease Day in increasing awareness of rare diseases and consumer health rare disease information.   

What is a “rare disease”? How many people grapple with rare diseases?

There are varying definitions but in the United States a disease affecting fewer than 200,000 people is considered rare. There are very few patients with any one rare disease but there are 7,000 diseases considered rare so collectively there are approximately 30 million people in the United States living with a rare disease. 

What are the unique challenges people–families and patients–face regarding diagnoses, treatment, clinical trials, etc.?

Patients/families with rare diseases often face many challenges in addition to dealing with illness. Some of those challenges and barriers include:

  • Delayed and/or misdiagnosis (on average it takes six to eight years to receive an accurate diagnosis).
  • Multiple tests/doctor visits
  • Lack of disease specialists 
  • Patients often have to travel long distances to access specialists
  • Financial burden- travel/ missed time from work and school, insurance issues, medical bills
  • Often no or few Food and Drug Administration approved treatments. Few or no clinical trials available. 

Fajgenbaum’s dramatic personal story is one of perseverance and hope. What impact do you think his story may have on attendees? 

Throughout Chasing My Cure, Dr. Fajgenbaum emphasizes silver linings. Even while extremely ill he not only looked for silver linings but helped create silver linings by finding a treatment that helped save his life and that has also benefited other patients with Castleman Disease. Not only is Dr. Fajgenbaum’s research leading to finding treatments and improving the quality of life for patients with Castleman Disease but these same strategies being used by the Castleman Disease Collaborative Network can be used by other rare disease organizations.

I think his story will definitely bring hope and encouragement to patients and their family members. 

How does programming like this one support the mission of the Health and Wellness Library? 

The Health and Wellness Library promotes health literacy by providing patients with reliable consumer-level information to help them make decisions about their health. Each year the Health and Wellness Library conducts a rare disease day program promoting consumer rare disease information resources to patients and their families. This program will bring a unique perspective about the rare disease journey–a perspective from a patient who is also a medical doctor who knows firsthand the burdens that patients face. 

Your own doctoral research filled a significant gap in the medical literature about the information needs of people with rare types of cancers. What did you learn about what patients with rare diseases need to know and what are some things physicians and clinicians should know about serving patients with rare diseases?  

Patients with rare diseases have a high level of information need throughout their healthcare journey about their rare cancers. Patients with rare diseases prefer receiving health information from the healthcare provider but report using the Internet as a source over all other information sources. This is important for health care providers to know. 

There is a lot of unreliable health information online. We want to make sure we equip patients to evaluate information before using it to make decisions about their health. We also want to provide all patients with reliable consumer-level websites they can access freely. Consumer health librarians/libraries can be a valuable partner in providing patients with accurate/reliable resources about rare diseases. Librarians can also educate patients on the importance of critically evaluating information and teach them the skills to critically evaluate health websites. 

Patients with rare diseases and their family members can visit or contact the VCU Medical Center Health and Wellness Library for health information. I can help them find reliable consumer-level information about rare diseases in a format they desire. Patients with rare diseases also often become patient experts on their own disease. I can also assist those patients with finding medical information.

Often patients with rare diseases have difficulty finding reliable consumer-level information about their rare diseases. Questions received from patients with rare diseases who visited the library led Ladd to her research topic for her dissertation - the information needs and sources of patients diagnosed with rare cancers. She earned her Ph.D. in Social and Behavioral Science at VCU in 2016. More about her research

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