For families facing a diagnosis of a rare disease, the medical world can feel alienating and intimidating, with a shortage of answers, resources and support networks.
Rare Disease Day is a national awareness effort that aims to bring together families with rare disease diagnoses to build their network, engage with researchers and learn more about the resources and services available to them.
“A disease is defined as rare when it affects fewer than 200,000 Americans. There are more than 6,000 currently identified rare diseases, 80 percent of which we know are rooted in genetics. Rare Disease Day is a way to show these patients and their families that they’re not alone and provide updates on research and patient care as they relate to rare diseases,” said Dr. Brendan Lee, chair of the Department of Molecular and Human Genetics and Robert and Janice McNair Endowed Chair and professor of molecular and human genetics at Baylor College of Medicine.
As part of Rare Disease Day, Baylor and Texas Children’s Hospital are hosting a community event on Saturday, Feb. 23, at the Health Museum of Houston, from 9 a.m. to 1 p.m. The event will offer two opportunities to participate in an Ask the Expert session, 10-minute sessions with an expert in the field, as well as an educational presentation about the importance of rare diseases in human health.
The event also will feature a panel of social workers who will discuss identifying the best family support services and a performance by the River Performance Troupe. There will be more than 35 disease organizations, scientists and companies involved in rare disease research, awareness or management hosting booths.
“One of the key takeaways from the event is the importance of rare disease research in overall human health. There are valuable insights to be gained from developing an increased understanding of the genetic triggers or drivers behind many of these conditions,” said Lee.
Additionally, Baylor and Texas Children’s will celebrate Rare Disease Day in the Texas Medical Center with an informational table on Thursday, Feb. 28, from 11:30 a.m. to 1:30 p.m. in the auxiliary bridge at Texas Children’s.
“We hope to raise awareness about the impact of rare diseases on our Houston community and enable families, healthcare professionals and students to connect with information, resources and new friends,” said Susan Fernbach, director of the Office of Community Engagement and Diversity in the Department of Molecular and Human Genetics at Baylor.