Brief Rare and Orphan Diseases

Patients with orphan and rare diseases often seek treatment in clinics where the condition has never been seen before, and absent, masked, misunderstood or confused symptoms can contribute to delayed diagnosis. For one-third of individuals with a rare disease, it can take between one and five years to receive a proper diagnosis.

Early detection, diagnosis and intervention is critical to prevent death or disability for many orphan and rare diseases. Half of all patients diagnosed with a rare disease are children, and as many as three in ten children with a rare disease will not live to see their fifth birthday. Newborn screening, routinely provided to 4.1 million babies each year in the United States, can identify genetic, endocrine and metabolic disorders. Each year, 4,000 babies are diagnosed as having a congenital disorder, and approximately 1,000 go undetected. The Recommended Uniform Screening Panel (RUSP) includes 35 core conditions and 26 secondary conditions. Each state decides which conditions to include in its newborn screening program; most include those listed in the RUSP. Ten states introduced legislation in 2019 requiring screening for certain diseases, determining cost feasibility of screening for additional diseases and expanding coverage of screening under Medicaid, and many others have already enacted legislation on newborn screening.

Orphan and rare disease treatments range in effectiveness from curing the disease, modifying how the disease functions or treating the symptoms of the disease. Truly curative treatments are rare. Disease modifying therapies target the underlying pathology of a disease to prevent it from worsening. Symptomatic treatments seek to temper symptoms or maintain physical, emotional and mental functioning. Treatments may include medications, nutritional agents, surgical procedures, psychotherapy, physical and occupational therapy and medical devices. Examples include cardiac valve conduits that expand as a child grows to prevent repeated surgeries throughout their lifetime and nutrition and dietary supplement interventions to promote proper growth and development among patients with inborn errors of metabolism (IEM). Delays in the development, approval and availability of new drugs to treat orphan and rare diseases can have unintended consequences for patients. For example, treatments for spinal muscular atrophy are limited and must be administered to infants and children under 2 years old, which could mean the difference between life and death for patients.

Many patients with orphan and rare diseases require medical devices to diagnose and treat their conditions, such as genetic tests, pediatric implants that grow with a child and pediatric intrathecal ports for drug delivery. The U.S. Food and Drug Administration (FDA) and the National Institutes of Health’s National Center for Advancing Translational Sciences/Office of Rare Diseases Research reported that 917 clinicians cited unmet medical device needs in 2015, with many noting the need for entirely new diagnostic and therapeutic devices.

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