Achieving a Diagnosis

For many people living with a rare disease, getting a diagnosis can be a long, stressful experience that can take years. Navigating the healthcare system for months or years in search of a diagnosis can leave a person feeling frustrated and exhausted from a seemingly never-ending quest for answers.

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There are several reasons why a rare disease can be difficult to diagnose. Many primary care physicians, and even some specialists, are often unfamiliar with the variety of symptoms that can be associated with rare diseases. Also, some rare diseases have nonspecific symptoms, such as weakness, pain, or dizziness. These symptoms can be misdiagnosed as more common conditions.

Also, because more than 80% of rare diseases have a genetic cause, genetic testing is often the only way a definite diagnosis can be made. However, if a physician does not include genetic testing as part of the diagnostic process, the diagnosis may be missed.

Achieving an accurate diagnosis is the first step in finding the right treatment and improving care for people with rare diseases and their families. However, delays in diagnosis can lead to inappropriate management of a rare disease and disease progression. Also, a misdiagnosis can lead to interventions that are not appropriate for the underlying disease or condition.

A correct diagnosis ensures that people with rare diseases receive the clinical care and counseling appropriate for their disease. Also, a diagnosis removes a significant psychological weight from those who have been struggling with a long diagnostic odyssey. It also gives people and families affected by a rare disease the chance to connect with a rare disease community. Improving the diagnostic journey for people with rare diseases is an important area of focus for rare disease patient advocacy organizations.