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Diagnostic Odyssey

For many Rare Disease/Undiagnosed Individuals and Families, the process is long and full of challenges including many different medical visits and testing. At South Carolina Rare, we hope to support our community with resources and information to help with this process as much as possible. For more information, please visit our Diagnostic Odyssey page.

Rare Disease Facts and Statistics

Rare Diseases are defined as any disease that affects fewer than 200,000 people in the United States. Often, individuals living with a rare disease experience a longer diagnostic process and lack of treatment options.

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There are over 10,000 Known Rare Diseases Worldwide

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1 in 10 Individuals in the US have a Rare Disease (expected to be over 500,000 in South Carolina/25-30 million total in the US)

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Approximately 70-80% of Rare Diseases Have a Genetic Component

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70% of All Rare Diseases Typically Are Found Starting in Childhood

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Approximately 95% of Rare Diseases Do Not Have an FDA-Approved Treatment

  • ​Clinical Trial: a type of research that studies new tests and treatments and evaluates their effects on human health outcomes 1

  • Comorbidity: the simultaneous presence of two or more diseases or medical conditions in a patient

  • Diagnostic Odyssey: a term used to describe the long and difficult journey that many rare disease patients and their families undertake to receive an accurate diagnosis 2

  • FDA-Approved Treatment: a drug, device, or biological product that the U.S. Food and Drug Administration (FDA) has determined to be safe and effective for its intended use 3

  • Genetics: biological study of heredity, focusing on how traits are passed from parents to offspring through genes, DNA variations, and their interactions with the environment 4

  • ICD Code: a standardized code used by the healthcare industry to classify diseases, symptoms, and health conditions in a consistent way; used for multiple situations including billing, data collection, and tracking health outcomes 11

  • Idiopathic: relating to or denoting any disease or condition which arises spontaneously or for which the cause is unknown

  • Natural History of a Disease: the course a disease takes in the absence of intervention in individuals with the disease, from the disease's onset until either the disease's resolution or the individual's death 5

  • Natural History Study: a preplanned observational study intended to track the course of a disease 5

  • Orphan Drug: medications designed to treat rare diseases 6

Rare Disease Glossary

In this section, common terms/phrases that are often heard in the rare disease space will be listed and defined. Sometimes, it can be difficult and overwhelming to understand common terminology used in situations. Please reach out if you have any questions.

Rare Disease History

  • January 1983: Congress enacted the Orphan Drug Act to "facilitate the development of drugs for rare diseases or conditions." 6

  • ​May 1983: The National Organization for Rare Diseases (NORD) was established 7

  • February 2008: The first-ever Rare Disease Day was celebrated in over a dozen countries 8

  • 2010: The Rare Disease Congressional Caucus was established 9

  • 2022: The South Carolina Rare Disease Advisory Council (SCRDAC) was established 10

  • September 2025: South Carolina Rare was founded

The Rare Disease Space is actively growing and expanding both globally, nationally, and throughout South Carolina. There are hundreds of organizations and communities that focus on a variety of areas including disease-specific groups. Click to read more about a few of these organizations that may be of interest to individuals within the Rare Disease Community.

Rare Disease Organizations

Rare Disease Media

Included are some well-known rare diseases podcasts and blogs that often discuss different rare disease patient experiences

Podcasts:

  • 1of20Podcast

  • ​The Patient Perspectives Podcast

  • Rarecast by Global Genes

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Blogs/News:

  • Bionews

  • KnowRare

  • Beacon for Rare Diseases

Community-Based Resources

While South Carolina Rare was founded to bring awareness of rare disease within South Carolina, we understand that advocacy cannot be at the forefront of an individual's mind when having to go without necessities. In this section, we have collected recently updated community-based resources including access to shelter, food, clothing, and other important factors. Click below to access the list sorted by South Carolina county with information about available resources.

Sources

  1. https://www.who.int/health-topics/clinical-trials#tab=tab_1

  2. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/the-diagnostic-odyssey-in-rare-disease/

  3. https://www.fda.gov/consumers/consumer-updates/it-really-fda-approved#:~:text=The%20FDA%20approves%20new%20human%20drugs%20and%20biological%20products.&text=This%20means%20that%20a%20company,list%20of%20licensed%20biological%20products.

  4. https://www.cdc.gov/genomics-and-health/about/index.html#:~:text=Overview,better%20treatments%20for%20those%20diseases.

  5. https://toolkit.ncats.nih.gov/glossary/natural-history-study/

  6. https://www.congress.gov/crs-product/IF12605#:~:text=Just%20under%20half%20of%20all,in%20the%20orphan%20drug%20field.

  7. https://rarediseases.org/about-us/history/

  8. https://www.rarediseaseday.org/previous-rare-disease-days/rare-disease-day-2008/#:~:text=Event%20Summary,his%20exemplary%20actions%2C%20inspiring%20others.

  9. https://everylifefoundation.org/rare-advocates/rarecaucus/

  10. https://rarediseasesc.org/about-the-council

  11. https://www.cdc.gov/nchs/icd/icd-10-cm/index.html#:~:text=Search%20ICD%2D10%2DCM%20Codes,attacks%20of%20September%2011%2C%202001

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