Diagnosis and Challenges

It's probably surprising that, despite recent technology and medical improvements, misdiagnosis and a lack of understanding remain key problems for persons living with a rare disease or undiagnosed condition. Being without a diagnosis is a terrible situation for families, compromising the patient's health, survival, and well-being, as well as, in some cases, the patient's entire identity. Even if there is no cure, obtaining one can help the family realise what they are up against, allowing them to begin to focus on how to manage the disease and their 'new normal.' The discovery of genes that cause rare diseases has increased at an unprecedented rate in the last five years, as has the number of diagnosable but untreatable conditions. Rare disease diagnosis is difficult; yet, the speed with which genomics has progressed from a research setting to mainstream clinical practice demonstrates its utility.

• Incidence and Prevalence
• Patient Reported Burden of Disease
• Patient Access