If rare diseases are so rare, why do they matter?

Dr. Ségolène Aymé is the Editor-in-Chief for Orphanet Journal of Rare Diseases. She is the founder of Orphanet, and chair of the Topic Advisory Group on rare diseases at the World Health Organization. Here she talks about Rare Disease Day and why it is so important to have a day dedicated to this, despite the scarcity of the diseases.

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You may wonder why rare diseases matter so much that they deserve a special day, a rare day: the 29th of February! In fact, there are many reasons.

Quality of care

The first one is humanitarian. Having a rare disease is very unfair. It can affect anyone, no matter their behavior, at any age, most often young children, and usually the disease is chronic, severe, and has no cure.

Society should pay attention to these affected individuals as they deserve the same quality of care as anyone else. It should also pay attention because there are many people in these situations. Although each disease is rare, patients are numerous as there are thousands of possible rare diseases.

A public health issue

Rare diseases represent a true public health issue which requires creative initiatives to address the specific challenges caused by the rareness.

This brings us to the second reason why Rare Disease Day is warranted: rare diseases represent a true public health issue which requires creative initiatives to address the specific challenges caused by the rareness. The knowledge is scarce, the experts are few, the healthcare system is not organized for these patients, and the market is too small to be attractive when it comes to developing new therapies.

The patient’s point of view

The third reason is that the rare diseases field is a model of innovative practices designed for the patients, by the patients. Patients with AIDS were the first to impose patients’ views on how care should be provided, how Industry should conduct R&D, and on how new therapies should be made available and accessible in countries with low income.

Rare disease patients have followed in these footsteps using a collaborative pattern of action which has turned out to be very effective as many countries now pay attention to this sector. Incentives for Industry to invest have been launched.

Researchers pay attention to these diseases which serve as disease models, as they are caused by a single biological defect, genetic in origin. This is akin to a small experiment of nature demonstrating the importance of a larger biological process.

Rare diseases are now driving innovation in medicine, with a quarter of all innovative products reaching the market being designed for a rare disease.

Rare diseases are now driving innovation in medicine, with a quarter of all innovative products reaching the market being designed for a rare disease. This success is such that it is almost seen now as a threat to national economies, the reason being that the medicinal products developed for a small number of patients have high prices, to allow for an attractive income to the company.

These prices are perceived as exorbitant although their impact on total pharmaceutical expenditures is limited, in the range of 5%. Active discussions have to be maintained between all stakeholders to ensure that scientific progresses translate into a better life for the millions of patients who were unlucky enough to develop one of these terrible diseases.


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abituzumab

Good points on that Segolene! Another reason may be that rare diseases are more difficult to treat compared with normal ones, so we focus much on that.

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