Emily Wakefield presentation, Rare Disease DayUniversity of Alabama at Birmingham graduate student Emily Wakefield, a second-year in the UAB School of Health ProfessionsGenetic Counseling program, addressed an audience of rare disease patients, along with their family, friends and care givers, about the benefits, limitations and fears of genetic testing. February 28, 2014, marks the seventh worldwide Rare Disease Day and Wakefield’s remarks came at UAB’s Rare Disease Symposium. This is the first year UAB has celebrated the international event. Rare diseases are categorized as those that affect fewer than 200,000 people.
“Rare diseases by themselves are rare but collectively they affect 1 out of 10 people in the United States,” Wakefield told the crowd. “While only a small group of individuals might be affected with the same condition please know that you are not alone. It may be helpful to talk with those around you today. You are all members of a rare community and many of you have had similar experiences so look to each other for additional support.”
Wakefield, who studies in the Department of Clinical and Diagnostic Sciences, works directly with the UAB Undiagnosed Diseases Program for her graduate research project. Her literature review for the project has raised her awareness to the issues surrounding a lack of diagnosis.
For the rare disease gathering, Wakefield discussed the benefits and limitations of genetic testing. And she delved into diagnosis for a crowd where many have searched for, and lived with, no diagnosis for years.
“The impact of finally having a diagnosis, or a name, for your condition is tremendous for you and your family because now you can understand the risks to your family and explain to your friends,” said Wakefield. “Please remember your genetic counselor recognizes the impact that finally knowing your condition has on you and your family and we are here for you every step of the way.”
The National Institutes of Health (NIH) says there are approximately 6,800 rare diseases. Rare Disease Day is designed to raise public awareness about rare diseases and their impact on the lives of patients and their families.
