What Are Rare Diseases? 

Rare Diseases are conditions acquired either genetically or as a result of previous conditions (ex: infection, allergies) that affect an individual during the majority of their lifespan.  Generally there are only 5.9% of medical cases on the international level, with most cases being unique in either development or genetic disposition. 

How Is A Disease Classified As "Rare"?

While there is no universal classification for what makes a disease rare, the general principle calculates the amount of patients who are confirmed by doctors as having one or more unique conditions. In the US, if a case affects under 200,000 individual, specifically a 60 per 100,000 chance- then it is deemed rare. However the European Union will set the bar at 50 out of 100,000 individuals. 

It is easy to get lost with such percentages and therefore we provide a comparison of commonly known conditions. Using the general populous of 100,000, the number of patients who suffer annually from breast cancer would be 131.  In contrast only 19 patients annually would have Non-Hodgkin's lymphoma cancer. 

This example is not meant to claim one condition as better than the other but to highlight the drastic difference in available data for certain conditions even if they appear to fall under a similar branch. 

Why Are Rare Diseases Difficult To Treat? 

There are several factors that go into both a patient's diagnosis and their treatment plan. For example, let us consider the general patient.  If the average individual had a malady the process would be standard with medical professionals assessing their medical history and possibly requesting blood tests, imaging scans, and biopsies. Once the results are analyzed by other healthcare workers, the patient is then given a potential diagnosis. This is tested by looking at whether the suggested treatment(s) improve their life quality.  

The majority of this is only possible because many individuals worldwide have already faced the condition(s) over more than a 100 years, making symptoms and treatment data easily accessible. For a patient with a rare disease it can take several years to properly diagnose a condition, as no healthcare system will immediately assume an individual has a rare condition - especially when observable symptoms can often be shared by various common conditions. The lack of prevalence signifies few recorded cases of the condition and therefore even fewer proven treatment options with notable success rates. All of this only addresses the medical aspect of the situation, with financial backing for research advancing the exploration of rare conditions being an entirely separate issue. 

How You As The Reader Can Get Involved?

We hope that this information and the multiple resources provided on this site have piqued your interest in assisting the healthcare community, especially the brave patients who face these conditions daily.  Please find below stories of these individuals and their journey in battling a rare disease.