50% of patients are children! What medical challenges do rare diseases bring?

Author: Huang Rufang, Founder and Director of the Couder Rare Disease Center

What is a rare disease?

I am a patient with a rare disease called pseudoachondroplasia, which is a rare genetic disease related to orthopedics with an incidence rate of about 1/10,000.

Rare diseases are a general term for chronic diseases with extremely low incidence but often life-threatening. In fact, there are more than 7,000 rare diseases, but 80% of them are related to heredity, and 50% of them occur in childhood.

There are many rare diseases that are very serious and even life-threatening. Among them, 30% of rare diseases can pose a life-threatening threat in childhood.

Treatment and medication for rare diseases

Currently, there are more than 7,000 rare diseases, but the number of corresponding treatment drugs approved worldwide is actually very small, no more than 10% (Note: some say the proportion is 5%), which means that more than 90% of rare diseases have no drugs available so far. This is a huge medical challenge facing all of us humans.

Faced with such a challenge, we need to call on scientists and governments around the world to work more closely together to overcome some rare diseases.

Why should we pay attention to rare diseases?

Rare diseases are a public health problem facing all of us.

First of all, each of us is related to rare diseases, because as long as there is life inheritance, there is the possibility of rare diseases. This is like me, my parents are healthy, and no one in my family suffers from the same disease as me, so how did I come from?

Therefore, as long as there is life inheritance, every newborn baby may encounter gene mutations and may suffer from rare diseases. So in fact, every seemingly healthy person may be related to a rare disease.

Dilemma faced by patients with rare diseases in China

Rare disease patients in China still face many difficulties and challenges (due to the large population base), which may be more severe than those in other countries. For example, difficulty in diagnosis is a very important problem. Many rare diseases take 5 or even 10 years to be finally diagnosed.

Therefore, it is particularly important to strengthen the ability to identify and diagnose rare diseases, so that our families with rare diseases can avoid detours and be diagnosed in a timely manner. Diagnosis is the first step in our search for treatment methods.

So I am calling on all of us in society to join me in paying attention to rare diseases. Paying attention to rare diseases is paying attention to our own future.

This article is a work supported by the Science Popularization China Creation Cultivation Program

Team/Author: Deep Science - Huang Rufang

Reviewer: Liang Qianjin, Professor of School of Life Sciences, Beijing Normal University

Produced by: China Association for Science and Technology Department of Science Popularization

Producer: China Science and Technology Press Co., Ltd., Beijing Zhongke Xinghe Culture Media Co., Ltd.