Rare Disease Awareness

The issues

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. 

When awareness about a rare disease or genetic syndrome is limited, it makes each one more difficult to diagnose. To diagnose a rare disease, and to recommend targeted genetic testing to identify one, or the risk of one, requires a detailed understanding of what causes rare diseases, and an understanding of rare disease symptoms. This is even harder to do, and to diagnose a rare disease accurately when information about a rare disease is lacking. 

There is a need for increased research into the causes and symptoms of rare disease. This awareness needs to be increased amongst medical professionals who may not be genetic experts, and amongst potential rare disease patients themselves.

We know that the more rare disease patients, or potential patients are educated about the causes and symptoms of rare disease, the more likely they are to receive an accurate and timely diagnosis, as well as the right support and possible treatment. Awareness empowers patients, making it critical to improving diagnosis and care for rare disease families.

Rare disease awareness: the consequences


The less we know about the causes and symptoms of a rare disease the more likely a patient is to receive a misdiagnosis. Even with relatively well known rare syndromes, such as Ehlers Danlos, the rate of misdiagnosis can be as high as 56%, due to the complexity of how its symptoms present in different individuals. 

The more we know about a syndrome, the presentation of its symptoms and how it looks in different patients, the better we can understand its complexities and diagnosis more accurately around them. 

Fortunately we are able to utilize new AI-driven genetic analysis technologies in order to do this. Not only is the technology more reliable and accurate, than basing a diagnosis on a doctor’s evaluation of an individual’s symptoms or facial features, it is more accessible to patients as well. 

Facial screening analysis, for example, can be applied to screen potential rare disease patients for identifying facial features of specific rare diseases. Based on this analysis, a genetic counselor or genetic expert is able to make more accurate recommendations for genetic testing. 

This is just one example of how increased awareness about rare disease delivers a more accurate diagnostic process. 

Delayed diagnosis

The less we know about genetic syndromes, the more likely it is that patients will face a delayed or extended diagnosis process. The average wait time for an accurate and confirmed diagnosis of a rare disease is around 5 years, with some patients waiting anywhere from 8-10 years. 

There are a number of reasons for this (and a lack of accessibility to genetic experts and services is one of them), prime among them a lack of awareness surrounding rare disease. Very often symptoms are dismissed as unrelated, or misdiagnosed as something else unconnected to a rare disease. 

The consequences of misdiagnosis and delayed diagnosis for rare disease patients include a lack of early intervention, a lack of support in living with and possibly treating their symptoms, and the creation of a great deal of stress and frustration. 

In the case of inherited diseases it can lead to a situation where families are not empowered in terms of understanding how they can plan for healthy pregnancies, or understand more about their family genetic health, in order to ensure the genetic health of their future children. 

Rare disease awareness: the next steps

Raising awareness about rare disease is not only important in order to ensure genetic experts are better able to diagnose genetic syndromes. It is also important in order to empower patients and their families too.

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