Rare Disease Resources: Navigating the Diagnostic Journey
What is a Rare Disease?
A rare disease is a condition that affects a small percentage of the population. The exact definition varies from country to country, but in the US, a rare disease is one that affects fewer than 200,000 people.
There are over 10,000 rare diseases that together affect more than 30 million Americans. These diseases can range from mild to life-threatening, and they can affect any part of the body.
Common Symptoms of Rare Diseases
- Delayed development
- Intellectual disability
- Physical abnormalities
- Skin problems
- Eye problems
- Heart problems
- Kidney problems
- Neurological problems
- Endocrine problems
- Metabolic problems
Challenges in Diagnosing Rare Diseases
Diagnosing a rare disease can be difficult because the symptoms are often vague and can mimic those of more common diseases. Additionally, many rare diseases are so rare that doctors may not be familiar with them.
The diagnostic process for a rare disease can be long and frustrating. It may involve multiple doctor visits, tests, and procedures.
Resources for Rare Disease Patients and Families
There are a number of resources available to help patients and families who are affected by rare diseases. These resources can provide information about rare diseases, support, and financial assistance.
Organizations
- National Organization for Rare Disorders (NORD)
- Genetic and Rare Diseases Information Center (GARD)
- Rare Disease Database
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