Rare disease

What are rare diseases? 

Also known as orphan diseases, rare diseases are generally understood as illnesses with a low frequency of occurrence in a population. In Europe, a disease is considered rare when it affects less than five people per 10,000.

It’s important to note that while a disease may be rare in one region, it may be considered as common in another. For example, thalassemia, a genetic blood disorder, is rare in Northern Europe but fairly common in the Mediterranean region. Some common diseases also have rare variants.

Characteristics and features of rare diseases

Nearly all genetic disorders are rare diseases, but not all rare diseases are genetic. There are also rare forms of infectious disease, autoimmune disorders and cancers. 

One thing remains common between them: the causes of most rare diseases are mostly unknown. 

Rare diseases are often chronic and progressive. For many, symptoms begin at birth or in childhood, such as:

  • Neurofibromatosis- a genetic disorder that leads to tumour formation on nerve tissues
  • Rett syndrome- a genetic neurological disorder that affects speech, mobility and breathing

For others, symptoms of rare diseases occur during adulthood, such as Huntington’s disease and Crohn’s disease. 


Common challenges and difficulties

  1. Lack of medical and scientific knowledge 

This is perhaps the biggest challenge faced by the rare disease field. 

While the frequency of rare diseases may be low, each disease’s severity and course differ significantly on a case by case basis. Due to this variety of presentations and lack of research, guidelines, and training, the healthcare system was simply unaware of rare diseases until very recently. As a result, most patients spend years confronted with false diagnoses, unable to receive the medical support they need.

  1. Delayed support from the public health system 

The typical approach for common or clustering diseases is no longer relevant, and public health policymakers face the challenge of reaching a small patient population scattered worldwide. 

Some current strategies adopted by various countries include: 

  • Subsidies for the research and development of orphan drugs 
  • Establish an orphan drug network for knowledge distribution among researchers and physicians 
  • Medical care reimbursement for patients
  1. Insufficient treatment options 

Unfortunately, even with the correct diagnosis, most rare disease patients find no cure for their condition. In fact, 95% of rare diseases do not currently have any approved treatment options. However, appropriate medical support and nursing options can significantly improve patients’ quality of life and life expectancy.

  1. Barriers to medical care

We’ve seen impressive progress in treatment developments for some rare diseases. However, patients often face many barriers to access, the most common of which is the exorbitant costs of most novel treatments. This alone can deter or prevent a rare disease patient from getting the help they need. 

What is the future for the rare diseases field? 

Networking the existing knowledge on rare diseases is paramount to continued advancement. With the assistance of government bodies, there are now international registries where researchers can share their results and help accelerate the efforts worldwide.

Although there’s still a long way to go, rising numbers of orphan drugs on the market demonstrate that pharmaceutical companies are finally addressing the immense needs of rare disease patients.