Sensory Integration Virtual Event
Our fourth event in the Caregiver Lifestyle Series focused on Sensory Integration
The National Organization for Rare Diseases (NORD) says that in the United States, a rare disease affects fewer than 200,000 Americans. Some countries and the European Union have similar but slightly different definitions. EURORDIS states that the European Union considers a disease rare when it affects less than 1 in 2,000 citizens.
In simple terms, a rare disease affects a small percentage of a population. Often there are so few that there is no or little support or resources if you are even lucky to get a diagnosis. The average time for an accurate diagnosis of a rare disease is about 4–5 years but can take over a decade (Marwaha et al., 2022).
Most rare diseases are genetic disorders and 30% of the cases appear early in life. Unfortunately, many also die before reaching their fifth birthday.
This is a common question, and we ask it ourselves. No single number has been agreed upon for which a disease is considered rare. Global Genes have estimated that approximately 10,000 rare diseases currently exist globally, with 80% of these having identified genetic origins.
The true number is difficult to know, but NORD has a database that describes more than 7,000 rare diseases, and this is the number currently stated by the National Institutes of Health (NIH).
However, the true number may be much higher. For example, our daughter has a rare disease, and the Journal of Inherited Metabolic Disease suggests that only about 135 cases have been described worldwide since 1990. However, it is often misdiagnosed for mimic diseases, or patients go undiagnosed. However, Dr. Anselm said the true number of AADC deficiency patients might potentially total about 1,800 patients.
The number of 7,000 rare diseases may not seem like many people. The NIH translates this to around 25 to 30 million Americans. That means 1 in 10 Americans, or one on every elevator and four on every bus, have a rare disease. Together we are not so rare.
However, the true number may be much higher. For example, our daughter has a rare disease, and the Journal of Inherited Metabolic Disease suggests that only about 135 cases have been described worldwide since 1990. However, it is often misdiagnosed for mimic diseases, or patie
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