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.
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.
Finding a Clinic or Diagnostic Program
Help and resources are available for people who are currently searching for a diagnosis.
Some simply have not been referred to the correct specialist, while others have a disease that is either unknown to the medical community or does not yet have a known test.
Finding a clinic or diagnostic program that specializes in undiagnosed patients is an important way to connect with specialists who have expertise in diagnosing rare disorders.
The Undiagnosed Diseases Network (UDN)
The Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham
Smith Family Clinic for Genomic Medicine
The Undiagnosed Disease Registry
Role of Genetic Testing and Genome Sequencing
Because a high percentage of rare diseases have a genetic component, most undiagnosed patients benefit from evaluation at a clinical genetics center where they can receive genetic testing (for a search tool to locate clinical genetics centers in the U.S., please visit the American College of Medical Genetics and Genomics website at: https://clinics.acmg.net.)
Genetic testing involves examining a person’s DNA, the structure in cells that carries the genetic code. This testing can reveal variants, or changes, in genes that can help to diagnose some rare diseases.
Genetic tests can be performed on samples of blood, skin, saliva, or other tissue. These tests can help to confirm a rare disease diagnosis and identify treatment options, including clinical trials. Most genetic tests focus on examining one gene at a time, based on a clinician’s judgement of the most likely cause for a person’s condition.
Although genetic testing often provides a diagnosis, it may be difficult to predict which of the approximately 22,000 genes in the human genome is the cause of a person’s condition.
Alabama Genomic Health Initiative
Most clinical genetics centers and diagnostic programs offer teams of experienced physician medical geneticists and genetic counselors who can help families learn more about genetic testing and provide support to assist in adjusting to a new diagnosis.
This genetics professional team can help families determine whether genetic testing is appropriate and provide information about interpretation of a genetic test. Services can include:
- Providing information about how a genetic disease can be passed through families and determining your risk of having children with the disease
- Explaining the testing options available and discussing the benefits and limits of genetic testing
- Providing information about specific tests that are available for prenatal and preimplantation genetic diagnosis
- Interpreting and explaining the results of genetic testing
- Implementing a management plan based on a genetic diagnosis