The Truth About Rare Diseases

According to the National Institute of Health, a rare disease — also known as an orphan disease — is one which affects less than 200,000 Americans. Dr. Ann Kriebel Gasparro, a faculty member for Walden University's Master of Science in Nursing program, a nurse practitioner with over 26 years of experience, and member of the Rare Disease Advisory Council of Pennsylvania, tells Health Digest exclusively, "People and families affected by a rare disease often struggle for years to obtain a correct diagnosis of mysterious symptoms." She goes on to note, "Because these conditions are rare, medical treatments and research are often difficult to find." It is estimated that nearly 30 million Americans are affected by approximately 7,000 rare diseases.

Currently, nearly 90 percent of rare diseases lack an FDA-approved treatment. One of the biggest misconceptions Gasparro aims to dispel is the notion that "the development of drugs for rare diseases increases health care costs for everyone." The truth is that President Reagan signed The Orphan Drug Act into law in 1983. However, it wasn't until 2017 that a study by QuintilesIMS (now IQVIA) was commissioned by the National Organization for Rare Disorders (NORD). This study, which was designed "to quantify the true impact of orphan drugs on overall health care and prescription drug spending," found that these treatments only represented 7.9% of total drug sales.

The lack of research and knowledge of rare diseases can be detrimental to patient outcomes. Gasparro states that men, woman, and children are equally affected by rare diseases. A lack of proper and timely diagnosis and treatment can lead to premature death, especially in infancy or childhood. Since rare diseases aren't well understood by the majority of healthcare providers, it can take years for a proper diagnosis to be made. As such, the most critical obstacle many people with rare diseases face is receiving a correct diagnosis. 

Gasparro highlights this difficulty with Gaucher disease, one of the better-known rare diseases. Despite having a diagnostic test available for Gaucher disease, "many patients will go 10 years or longer without a correct diagnosis, and 25 percent of Gaucher patients have a delay in treatment." If you feel like you've exhausted all conventional specialists and resources in your community, Gasparro recommends looking to the National Organization for Rare Diseases (NORD).

As an organization dedicated to improving outcomes for those diagnosed with rare diseases, NORD offers "extensive information." Their resources include details on "insurance, diseases, drugs and treatments, and clinical trials around the world." It also highlights "information on providers who are specialists in the treatment of rare diseases as well as links to becoming an advocate, becoming part of a patient registry and much more," with details available regarding advocacy efforts state-by-state. All-in-all, NORD is a great resource for rare disease education, diagnosis and treatment, and advocacy.

NORD is also advocating for Medicaid to cover out-of-state care, which would enable patients and families to get the care they need without the crippling worry of medical debt. In many cases, families must travel numerous miles to obtain the treatment that is necessary.

Fittingly, Rare Disease Day is celebrated on the last day of February each year, the "rarest" day of the year. Gasparro states, "The mascot of the rare disease community is the zebra – an icon of something rare in the medical field." She encourages everyone to advocate for rare disease awareness and recommends joining a rare disease council or donating to related causes.

For more information on how you can make a difference, visit NORD's Rare Action Network.