by Jennifer Dykeman, MMSc Candidate, 2023
February 28th is Rare Disease Day! In the United States, a disease is defined as rare if it affects less than 200,000 people. It is currently thought that there may be as many as 7,000 rare diseases. Even though each disease by itself is considered “rare,” it is estimated that over 25 million people in the United States are living with a rare disease.
Some rare diseases are more recognizable than others. Examples of rare diseases that you might have heard of before include Klinefelter syndrome, Duchenne Muscular Dystrophy, or Hemophilia. While these conditions may be rare, there are some amazing support and educational resources available online for many rare diseases. Today is a day to celebrate these communities and recognize all of the hard work that they do. To learn more about the work some of these groups are doing, check out our Advocacy Alliance members here.
Even with 7,000 rare diseases known today, there are some individuals with genetic differences who are still looking for a diagnosis. Research is being done every day and the rare disease community is always learning new information. Advances in genetic testing through exome or genome sequencing may help to give answers to families without a diagnosis.
Fortunately, there are lots of great places to find quality, updated information on rare diseases:
National Organization for Rare Diseases (NORD)
NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. You can access their website by visiting rarediseases.org
Genetic and Rare Diseases Information Center (GARD)
GARD has an online database (in English and Spanish) that aims to provide accurate, up-to-date information about ongoing research, symptoms, treatment options and other details. Explore their resources by visiting GARD’s website.
ThinkGenetic is another great tool that aims to empower patients who want to know about possible genetic causes for their medical issues or obtain real-life answers to their questions about the impact of living with a genetic disease. The ThinkGenetic mission is to help reduce the time it takes to receive a genetic diagnosis. Explore our resources further on our site!
National Society of Genetic Counselors
Rare diseases may be sporadic (happen randomly) or they might have a hereditary component and can be passed down through families. If you are wanting to talk with a healthcare professional about a rare disease that may be in your family, you can locate a genetic counselor by using the National Society of Genetic Counselor’s Find a Genetic Counselor tool at Find a Genetic Counselor – National Society of Genetic Counselors
As always, talk to your doctor about any information presented in this article, on the sites listed in this article, and with any questions you may have about your family’s care. Remember your doctor and genetic counselor are there to help!
About Jennifer Dykeman Jennifer is a Genetic Counseling Student and Focus Project Intern at ThinkGenetic, working towards her Master of Medical Science in Human Genetics and Genetic Counseling at Emory University.