Rare Disease Day and neglected tropical diseases

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Wednesday, 28 February 2018

Emily Walsh is Community Outreach Director for the Mesothelioma Cancer Alliance. 

On the last day of February, Rare Disease Day is celebrated around the world to bring a greater awareness to conditions that often escape notice. In Europe, a disease is considered rare when it impacts less than 1 in 2,000 people, while the US defines them as affecting fewer than 200,000 Americans at one time.

These diseases can come in a variety of forms, from genetic effects, to viral and bacterial infections, to cancers. This adds up to around 7,000 documented rare diseases across the spectrum.

350 million people are affected around the world

The first Rare Disease Day was founded by EURORDIS and took place in the UK in 2008 on 29 February, emphasising the theme of rarity as a date that only occurs every leap year. Since then, the day has been celebrated annually, including events in 94 countries last year.

While these diseases are considered rare, they collectively impact about 350 million people around the world. In some cases, the rarity and unfamiliarity of these symptoms can lead to misdiagnosis, often causing more confusion and pain for the patient and their family.

This year’s Rare Disease Day theme is research, continuing along with the precedent set in 2017. This is a push to raise awareness about these diseases, while encouraging further study and attention towards their remedy and timely cures.

In the case of rare conditions like mesothelioma, a patient’s best chance of survival and receiving the care they need requires visiting a mesothelioma specialist. These specialists are few and far between, due to the cancer’s relatively low yearly diagnosis. Additional research may open doors to new methods of treatment that are crucial to ending life-threatening diseases like this.

NTDs are often misdiagnosed or untreated

Neglected tropical diseases share a lot in common with rare diseases. Although not all are considered rare, NTDs are often also misdiagnosed and treatments are less available.

These are classified as diseases derived from bacterial and parasitic infections, found in the tropical regions across 149 countries around the world.

Like rare diseases, inaccessibility to treatment due to excessive financial burden, distance from specialists, lack of availability, or limited data on the condition can cause a , suffering, disability, loss of income and even discrimination  for those affected.

These diseases plague some of the world’s poorest communities, which can be devastating economically due to high mortality rates and the cognitive or physical disabilities they can lead to, if left untreated.

The WHO currently has 20 diseases on its NTD list, including a variety of conditions from scabies, to foodborne trematodiases, to chagas disease. The common thread between all of these diseases is their lack of awareness in the public and even in the healthcare field. Although the majority of neglected tropical diseases have been driven out of more developed countries, these diseases still impact over a billion people around the world.

Need for more research

While rare diseases and NTDs generally take up different spaces in the health sphere, both experience a lack of awareness and research-based funding as they continue to afflict countless people globally.

This year’s theme of research for Rare Disease Day is dually applicable to other conditions like NTDs that often escape mainstream recognition. It is estimated that around 95% of rare diseases lack any FDA approved drugs for treatment. This shows that, similarly to neglected tropical diseases, further study of these conditions is needed to provide adequate treatment and work towards a cure.

It is through individuals and organisations advocating for further research that we will be able to see an end to these diseases.

The ethos of Rare Disease Day can carry over into many sectors of healthcare and clinical study. It encourages researchers to further collaborate with patients, caregivers, and health advocates to address what research and treatment development is lacking. Information and data are more accessible than ever, yet rare or lesser-known conditions still do not see the funding and focus that they need.

With the help of Rare Disease Day, we can draw attention to the disparity among disease awareness, while putting names and faces to the millions that suffer from these conditions every day.

RSTMH offers funding for research

To contribute to research into fighting NTDs, RSTMH has just opened its yearly small grants programme.

The grants are to enable early career researchers and global health professionals in the field of tropical medicine or global health to undertake clinical or scientific research or fieldwork, as stand-alone projects or distinct elements within a larger project.

The maximum small grant awarded is £5,000 (including VAT) and the deadline for applications is 2 April.

Find out more about how to apply for a small grant.