Rare Disease Resources


About Rare Diseases

Rare diseases are defined in the U.S. as diseases or conditions that impact fewer than 200,000 people.

Based on our population, Wisconsin has an estimated 600,000 individuals living with rare diseases and more than 6,400 new babies are born yearly with rare diseases. 

There are more than 10,000 known rare diseases that affect about 30 million people (or 1 in 10 people) in the U.S. Over 200 new rare diseases continue to be identified each year. Only about 10% have approved treatments.  Yes, that means 90% of rare diseases do not have treatments! This is a public health problem.

Most but not all rare diseases are genetic diseases. Often serious, chronic and progressive, many rare diseases are identified at birth or in childhood.  Two of every three rare disease patients are children. Very few rare diseases have a cure and roughly 30% of children with rare diseases die before age five. 

In addition to the disease itself, those impacted by rare diseases are also more psychologically, socially, economically and culturally vulnerable. Health care costs are estimated to be similar to that of cancer for a person with a rare disease.

Girls smiling
There is Hope

Appropriate medical care and treatment can improve the quality of life for those with rare diseases. Science and technology continue to evolve to improve the diagnosis, care and treatment of rare diseases. The knowledge of the natural history of diseases is being improved by the creation of rare disease registries. Early testing for childhood diseases such as newborn screening and genetic testing have each shown to save and improve lives. 

Continued advocacy is needed to develop and improve rare disease public policy to support those most vulnerable and encourage further advancement.