Romy Braunstein, a Rare Disease patient, advocate and a founder of GettingUp.org discusses the over 10,000 rare diseases that impact over 35 million worldwide. A ‘rare’ disease affects fewer than 1 in 2,000 people, they can be genetic or develop later in life for an unknown reason, although trauma can trigger symptoms. Romy encourages everyone to pay attention to the adult-onset symptoms such as blurred vision, muscle weakness and unexplained falls – all could be a warning sign of an autoimmune or other disease. She explained these fairly common symptoms often overlap, so initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient-to-patient suffering from the same disease so getting an accurate diagnosis can take up to eight years.
Romy notes that symptoms come and go so patients need to be vigilant and advocates for themselves, keeping track of symptoms, and asking for testing. She warns us about ‘medical gaslighting’ – symptoms being dismissed or given being passed off as part of aging or even psychological.
Rare Disease Day is February 29 in 2024. This global movement works for awareness, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Learn more at GettingUp.org or RareDiseaseDay.org