Living With a Rare Disease

Living with a rare disease can be difficult. This can be because of any number of different reasons. On top of the symptoms of a rare disease, which can include serious health and medical conditions, it can be difficult to live with a rare disease if you are unable to secure a confirmed diagnosis for your condition. 

Why can living with a rare disease be difficult?

Rare disease symptoms

Rare diseases are often multi-system syndromes, meaning they affect multiple parts of the body. This can range from developmental delay to intellectual disability, to issues with physical development and mobility. Symptoms of a rare disease can affect any part and system of the body. Some individuals with a rare disease face serious and long-term health conditions related to their syndrome. These can make life more challenging, both in the short and longer term. 


Living with a rare disease can be made even more difficult if, as a patient, you receive a misdiagnosis. There is still much that is unknown about many rare genetic syndromes, their causes and their symptoms. This can lead to high rates of misdiagnosis. 56% of Ehlers-Danlos (EDS) patients will receive at least one misdiagnosis. This is due in part to the complicated set of symptoms and the many subtypes of EDS but generally the rate of misdiagnosis for rare diseases is still too high. 

This misdiagnosis leaves patients stranded in a diagnosis journey. It means they are not able to access the targeted and specialist support they may require to manage a rare disease and its symptoms. It can also create a large amount of stress and frustration for those with a suspected rare disease. 

Delayed diagnosis

Living with a rare disease can also be made more complicated due to a delayed diagnosis. This generally refers to the long amount of time an individual must spend in their journey to a confirmed and accurate rare disease diagnosis. 

The average diagnosis time is around 4-5 years for a genetic syndrome, although for some diseases this can be even longer. Again this means that patients spend a lot of time looking for, searching for but not necessarily receiving concrete answers about their own health and symptoms. This can mean delayed treatment and support, which are known to make living with a rare disease more difficult. 

Lack of access to genetic counseling

Living with a rare disease can be a difficult and sometimes lonely experience. Rare diseases by their very nature, and their prevalence, are not common and it may not be easier to connect with others who have the same diagnosis and syndrome. It can also be difficult to find information about rare diseases, and a challenge for patients to educate and inform themselves about their own condition. 

What can make all the difference for rare disease patients is quick and regular access to genetic counseling services. This not only improves their chances of receiving an accurate genetic diagnosis but it also connects them to an expert who can educate them about their potential rare disease diagnosis, their options for genetic testing, and possible short and long term symptoms of the syndrome. This can be incredibly empowering for rare disease patients and their families, and the more empowered rare disease patients are about their condition, the more accurate a diagnosis they are likely to receive and the better able they are to manage their syndrome. 

Genetic counseling also provides important emotional support for anyone living with a rare disease. Genetic counselors are not just genetic experts, they are also trained counselors who are able to support patients through a genetic diagnosis and what it might mean to live with a rare disease. They can also connect patients to support groups and support networks for those living with a specific syndrome, or types of syndrome. 

Unfortunately however many rare disease patients are not able to easily access genetic counseling services. There may be a number of obstacles to this specialist care – from location, to cost, to availability of services. And this lack of access can negatively impact on the life of a rare disease patient. Improving genetic diagnosis, especially it’s accuracy is important in terms of improving the lives of those with a rare disease. 

However new developments are seeing the advancement of online genetic counseling services, in order to ensure greater access for those who need the services most. These virtual services are ensuring rare disease patients get the critical help and support they need for living with rare genetic diseases. 



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