Navigating the Complexities of Rare Diseases: Understanding, Diagnosis, and Support
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Degenerative diseases are those in which a breakdown in the cells of the body lead to a deterioration in how parts of the body function. These cell changes generally affect the tissue and organs of the body. Very often there are no treatments or cures for this degeneration, although therapies and treatments may be available to alleviate symptoms related to it.
Rare diseases are not common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Down syndrome, are more prevalent and affect thousands of people. Generally, in the US, a rare disease is one which affects less than 200,000 people.
Down syndrome Widely recognised as the most prevalent and most commonly diagnosed genetic disorder, Down syndrome is not an inherited genetic syndrome. It is caused by the presence of an extra copy, or extra partial copy, of Chromosome 21. It is also sometimes known as Trisomy 21.
There are many potential challenges when it comes to finding a rare disease specialist in a specific area or location. However new developments in virtual and online genetic counseling look set to address and remove most of these barriers head on.
In recent years people with Ehlers-Danlos, a rare disease affecting mainly the connective tissue of the body, have adopted the moniker ‘zebras’, to refer to themselves and other individuals with the same diagnosis. The term is a play on a common phrase taught to medical students during their training –
By its very nature rare disease has an awareness issue. There are currently around 7,000 identified rare diseases, and many of them affect only a handful of patients in the world. When a disease affects only a few people, awareness about it is naturally limited, even amongst medical professionals.
There are around 7000 rare diseases identified worldwide. In the US a rare disease is defined as one which affects less than 200,000 people. This amounts to around 30 million Americans affected by a rare disease. Some rare diseases are the result of a single gene mutation, often known as single gene disorders, their uncomplicated cause means a higher degree of accuracy in identifying them.
Genetic syndrome symptoms are many and varied. Each of the 7,000 genetic syndromes currently identified presents with it’s own unique set of symptoms, including characteristic facial features and medical conditions. However even within a genetic syndrome, symptoms may vary from mild to more severe. It is also often common, with some rare diseases, for siblings within the same family with the same syndrome, to have symptoms of varying levels of severity.
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.