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What is a Rare Disease?

When a child is diagnosed with a rare disease, it can make families feel isolated. Although by their nature these diseases are rare, their presence is surprisingly common. Children may not share the same diagnosis, but often they share the rare disease definition. The Rare Road Foundation was established to learn more about the various rare diseases in our community and to find families who were walking on the same rare road. As we develop, our hope is to expand our community – because community is as essential as care.

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Children with rare diseases often receive co-diagnoses. So far, some of the rare diseases and conditions we have encountered are: 

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  • Epilepsy 

  • Autism Spectrum Disorder 

  • Downs Syndrome 

  • Cerebral Palsy 

  • Phelan-McDermid Syndrome 

  • HNRNPH2 

  • 16q14.3-16.1 

  • NTRK2 

  • 16P11.2 

  • ReNU2

  • HIE (Hypoxic-ischemic encephalopathy) 

  • Undiagnosed Diseases 

Rare Disease Facts

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A disease is considered rare if it affects fewer than 200,000 people in the United States.

Rare diseases can be genetic, infectious, or degenerative.

Globally, there are 7,000 known rare diseases.​

Because of their variety and limited presence, there are not many treatment options.

Source: Boston Children's Hospital

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