The Challenges Facing Rare Disease Patients

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.

The main challenges


Misdiagnosis is a continuing problem within the world of rare disease. The general rate of misdiagnosis is still much too high, and while this rate can vary between genetic disorders, there are still too many patients receiving a wrong diagnosis. 56% of Ehlers-Danlos patients, for example, receive at least one misdiagnosis on their way to an accurate one. 

Misdiagnosis in rare disease happens due to several reasons. The main factor being a lack of awareness about the causes and symptoms of rare diseases. This lack of awareness exists not just among the general public, but amongst many medical professionals as well. 

Rare disease causes and symptoms are tricky. Some syndrome share similar symptoms, and sometimes even share similar sets of symptoms. This can cause misdiagnosis.

Symptoms of a genetic disorder also can present differently in affected individuals, with some being affected more severely than others, and some being affected by some symptoms but not others. With some rare diseases, even siblings within the same family with the same syndrome can display different, or different degrees of symptom severity. This makes it difficult to diagnose rare disease accurately, at least from their symptoms alone. 

The causes of genetic syndromes, can be complicated, or in a lot of cases unknown. This then means genetic testing for that syndrome may not exist, which creates a situation where there is no definitive way to diagnose a genetic disorder or not. Some syndromes are caused by multiple gene mutations, and new mutations are being discovered all the time, further complicating genetic testing and increasing rates of misdiagnosis. 

Delayed diagnosis

A delayed genetic diagnosis, or long diagnostic journey is something that many rare disease patients face. The average waiting time for a genetic diagnosis is around 4-5 years, although this time can increase depending on the syndrome. Some Ehlers-Danlos patients routinely wait up to ten years for an accurate and confirmed diagnosis of the syndrome. 

A delayed diagnosis is caused when patients receive one or more wrong diagnoses. It occurs when they do not have access to genetic counseling and genetic testing services, or if availability of these services is limited in their area. 

Lack of awareness

There is still much that is not known about the causes and symptoms of genetic disorders. Some of this stems from the complicated nature of many rare diseases, but some of it stems from limited research and funding into what many call orphan diseases.

Overall awareness about rare diseases is low. This in turn causes higher rates of misdiagnosis, delayed diagnosis and multiple challenges for rare disease patients. 

Lack of access

Rare disease patients often face many challenges when it comes to accessing genetic counseling and testing services. 

Access to genetic counseling is crucial if patients are to receive a timely, and accurate diagnosis. Genetic counselors empower rare disease patients with information and knowledge, they are able to make sense of a patient’s symptoms and their family medical history, while making recommendations for genetic testing options. They also offer and provide important emotional support through what is a challenging and difficult process. 

The impact

All of these obstacles create real and difficult challenges for many rare disease patients. A delayed diagnosis, and multiple misdiagnosis, prevents them accessing the right support, care and possible treatments for their condition. It doesn’t only create stress and frustration, but can also delay important medical care and support as well.

More needs to be done to ensure rare disease patients have wider access to genetic counseling services, regardless of where they are located in the world. They need timely access to a network of global genetic counselors who can help ensure they receive a faster and more accurate genetic diagnosis. 


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