For the more than 400 million people living with rare diseases, the journey towards diagnosis is often long and complex. Even when a rare disease has been identified, treatment options are scarce—over 95% of rare diseases have no approved treatments. Meanwhile, people also need support while living with the symptoms of rare diseases and the possibility of disease progression.
Optimize holistic care for people with rare diseases—including physical, mental, social, and legal support;
Support daily care management for patients and/or their caregivers;
Mitigate barriers to accessing medical care after diagnosis which disproportionately affect disinvested communities and historically underrepresented identity groups;
Enhance coordination of care and strengthen data sharing between health care professionals, specialty services, and patients;
Empower patients with quality information about their conditions to fight stigma associated with rare diseases; and
Promote community and connection among rare disease patients and their advocates.