Navigating the Complexities of Rare Diseases: Understanding, Diagnosis, and Support
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There are many potential challenges facing rare disease patients – from misdiagnosis and delayed diagnosis, to a general lack of awareness about the causes and symptoms of many genetic syndromes; to a lack of access to vital genetic counseling support services, and information about genetic testing.
We explore the challenges facing rare disease patients in reaching an accurate diagnosis, and the solutions to these problems. A diagnostic odyssey refers to a diagnostic journey that is delayed, paused or has reached an impasse. It means that a patient is struggling to reach or receive a confirmed and accurate diagnosis. This can have a devastating impact on the lives of those living with potential rare disease symptoms as it delays access to the right support and possible treatment options.
The nervous system is made up of the brain, nerves, and spinal cord. They work together to control the body and its different systems. Problems with the nervous system can affect many other parts and functions of the body, including its physical, speech, and language, feeding and eating, and respiratory functions.
Many of these are unknown to most people, and even medical professionals would struggle to identify and diagnose many of them. To be a rare disease, a disease must have been diagnosed in less than 1 in every 200,000 people in the US. However, this definition varies from country to country. In the EU, for example, a rare disease is one with less than 1 in every 2,000 people across Europe.
A rare genetic disease is defined, in the US, as any disease that affects less than 200,000 people. A rare disease is also often known as an orphan disease, a title given to those diseases that have been neglected in terms of research and funding.
A recent study in China of 2040 rare disease patients is shedding light on misdiagnosis in rare disease, and how it may be affected by various factors, including demographics, socioeconomic status, medical history, and access to information about genetic syndromes.
The average waiting time for a final diagnosis is currently estimated to be around five years and can involve the input of, on average, 4-5 doctors. For many families, navigating their child’s diagnostic odyssey can be a long and painful process. Trying to find answers to why their child presents with specific features and health conditions and trying to understand which genetic condition may be causing them can be a difficult, time consuming, and expensive process that takes its toll on the whole family.