After the Diagnosis

The diagnosis of a rare genetic disease begins an odyssey toward treatment and cure for patients, clinicians, and researchers. Even though a treatment may not have been identified, there are many ways in which the clinician can help the patient. Information available to patients and their participation in research is dependent on how many individuals have previously been diagnosed with the condition and how much prior research has been conducted. When only a few cases have been reported, information will be limited to case reports, and each newly diagnosed patient is critical to learning about the disease. As more information becomes available, patient foundations form and researchers develop a long-term interest in the condition. In addition to informing the patient about diagnosis, prognosis, and the genetics of the underlying condition, clinicians should also help to guide the patient toward patient foundations and provide information about research participation to help better characterize the condition and find treatments. In rare disease research, each patient is important in providing clinical information as well as genetic and other biological samples for study. Researchers take this information provided by patients, analyze the data, and provide patients information about their condition. As patients and researchers work together, progress in research occurs, eventually leading to a treatment. The clinician, patient, clinical researcher, and basic scientist are all critical to success toward a potential therapy.