Thanks to years of research, advocacy efforts, and awareness campaigns, the spotlight shines more brightly than ever before on rare diseases. More than 7,000 have been identified, dating back to ancient times. They are a diverse group, seemingly defying categorization: widely recognized (hemophilia, Duchenne muscular dystrophy) or less well known (Fabry disease, Gaucher disease); affecting heart, blood, lungs, or bones; presenting at birth or first appearing in adulthood; impacting a single system in the body or multiple organs. While the threads that connect them can be challenging ones - frequent misdiagnosis, financial burdens, lack of approved drugs – remarkable advances in therapeutics, treatment, and care have occurred in the last decade. The following are five ways rare diseases continue to be defined and redefined, with the ultimate hope of evolving from 'rare diseases' to 'treatable' to 'cured diseases.'1) Defining rare diseases by prevalence is not an exact science because the numbers are categorized differently globally.
Orsini Specialty Pharmacy provides comprehensive and compassionate care for patients with rare diseases and complex conditions. Our high-touch care model centers around experienced, therapy-specific teams who deliver personalized patient care. Learn more about Orsini's essential services for rare and complex disease therapies and our dedicated support for physicians, manufacturers, payors, and patients.
Orsini is a leading independent national specialty pharmacy accredited by ACHC, JCAHO, URAC, and VIPPS. The services we provide allow patients, physicians, payers, and manufacturers to improve care, simplify processes, and achieve better outcomes.Learn More