Living with a Rare Disease

When a child or adult has been diagnosed with a rare disease, where little is known and understood about the medical condition, feelings of isolation, invisibility and vulnerability can be overwhelming.  Parents of children with rare diseases and patients aren’t sure where to turn to for clinical resources regarding breakthrough medical treatments, updates on pharmacological interventions, and support.

What are the unique challenges faced by the rare disease patient community?

  •  Health care and social support services are designed for patients with common diseases with little awareness and few treatment options available for less known rare diseases.

  • Lack of a diagnosis can result in patients and families being denied necessary services in hospitals, schools and the community.

  • Patients with rare and undiagnosed disorders require the coordination of multiple specialists, which depending on the geographic region can be difficult to access for families.

  • Limited research into rare disorders provides limited hope. The low-incidence rate of rare disease diagnosis makes these degenerative and sometimes life-threatening conditions a ‘lower priority’ for institutional research.

  • Due to the small market size, there are limited drug discovery initiatives by
    pharmaceutical companies when therapeutic targets are known. Pharmaceutical companies focus on scalability (large patient populations) when it comes to investing in research for new prescriptions and therapeutics. 

  • Supportive organizations specific to each individual rare disease often do not exist, and those that do exist have geographically widespread membership that cannot provide advice on local resources, specialists, community support events and more.

 

The Rare Disease Foundation helps connect parents and families impacted by rare diseases by becoming an important source of community and crowdsourcing research, clinical information, and providing emotional support. 

Collapsing the silo and isolation of life with rare disease, we provide a free outreach program called the Parent 2 Parent Resource Network Community.  Help is available to the Canadian rare disease community.