For People with Rare Diseases, Genetic Counselors Can Provide Support
Advocacy Genetic counselors provide help with medical services and emotional support to patients with rare diseases.
Having a rare disease can be isolating, frustrating, scary and exhausting. It’s challenging to find a community of people who share the same condition. Treatments may not exist. Those who don’t know what is causing their disease may spend years on a diagnostic odyssey, visiting various doctors for invasive tests and expensive studies without receiving an accurate diagnosis. Genetic counselors can play a vital role by supporting patients and families throughout their journey.
Rare Disease Day (February 28) calls attention to the approximately 30 million Americans (half of whom are children) suffering from a rare disease. There are about 7 thousand rare diseases, and 80 percent are the result of genetic changes. Thanks to advances in genetic testing, scientists are identifying the genes responsible for 30-40 percent of these rare diseases.
The idea of navigating this complex journey can be overwhelming for patients and their families. With advanced training in medical genetics and counseling, genetic counselors can guide patients with a rare disease. As part of the patient’s healthcare team, they ensure that no stone is left unturned in the path to a diagnosis and treatment. Genetic counselors can assess new symptoms that may provide important clues in a diagnosis, identify tests (and ensure they are covered by insurance), help patients and their families understand what the results may mean for them and empower them with a clear path forward. Genetic counselors also provide the crucial service of ongoing emotional assistance, and connect patients to a community for support as they pursue research and treatments to improve their care and quality of life.
For more information, find a genetic counselor near you at FindaGeneticCounselor.com.