The last day of February has been designated as World “Rare Disease Day” to call attention to the public health issues associated with rare diseases. The Project Charity — The Children’s Rare Disease Network has compiled some facts and figures about rare disease that we thought would be of interest. If you have other facts and figures not on our list, please send them to us. We are particularly interested in international facts on rare disease that do not seem to be available.

  • Approximately 7,000 rare disorders are known to exist and new ones are discovered each year
  • Rare disease affects between 25-30 million people in the United States and approximately 30 million people in the European Union
  • One in 10 Americans is living with a rare disease
  • Children represent the vast majority of those afflicted with rare disease
  • Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes
  • In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000
  • Rare disease is often referred to as an “orphan” disease
  • Orphan or rare diseases are often not pursued by the pharmaceutical industry because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them and because there are not enough patients to make research cost-effective
  • Research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems
  • As a whole, rare diseases represent a large medical challenge. Combine this with the lack of financial incentives to treat or cure rare diseases, and a serious public health issue is created
  • The US Orphan Drug Act (ODA) of 1983 has been one of the most successful pieces of health related legislation ever enacted in the United States. Through a system of tax credits, government grants, assistance for clinical research, as well as seven years marketing exclusivity, the Orphan Drug Act has resulted in hundreds of approved orphan medicines, treating over millions of patients worldwide. Similar legislation has been adopted in Japan, Australia and the UK

Following are a few examples of rare diseases that afflict children: Acute Lymphocytic Leukemia, Angelman Syndrome, Apert Syndrome, Aase-Smith Syndrome, Batten Disease, Carpenter Syndrome, Coarctation of the Aorta, Chronic Myelogenous Leukemia (CML), Crouzon Syndrome, Cystic Fibrosis, Duchenne Muscular Dystrophy, Ewing’s Sarcoma, Eisenmenger Syndrome, Fabry Disease, Fragile X, Epidermolysis Bullosa, Gastroschisis, Gaucher Disease, Hirschsprung’s Disease, Hurler Syndrome, Krabbe Disease, Legg-Calve-Perthes Disease, Marfan’s Disease, Microcephaly, Niemann Pick Disease, Neuroblastoma, Neurofibromatosis, Patent Ductus Arteriosus, Pompe Disease, Prune Belly (Eagle-Barrett) Syndrome, Sanfilippo Syndrome, Spina Bifida, Sickle Cell Anemia, Tay-Sachs, Tetralogy of Fallot, Tourette’s syndrome and Williams Syndrome.