International Rare Disease Day丨"Puppet Man" and "Porcelain Doll"...How much do you know?

Xianxian (pseudonym), who is two and a half years old this year, suffers from spinal muscular atrophy. At the beginning of the year, accompanied by her mother, she became one of the first patients to receive injections of nusinersen sodium injection, a "sky-high" life-saving drug that originally cost 700,000 yuan per injection, after it was included in the medical insurance at Hunan Children's Hospital.

According to surveys, the average time for rare disease patients to be diagnosed was 4 years in the past. There were few clinical cases, little experience, and few and expensive drugs available, which led to many rare disease patients being "delayed". The last day of February every year is "International Rare Disease Day". In my country, more than 20 million rare disease patients, including Xianxian, are increasingly "standing in the spotlight".

Do not give up on any life and let the flower of life bloom with brilliant colors. Formulate a catalog of rare diseases, establish a national rare disease diagnosis and treatment cooperation network, and establish the China Rare Disease Alliance... my country has always practiced the concept of "people first, life first" and continuously promoted the "Chinese solution" to solve the problem of rare disease prevention and treatment.

"Puppet Man" and "Porcelain Doll"... How much do you know about rare diseases?

Puppet, porcelain doll, ALS... Behind these seemingly beautiful and cute nicknames for rare diseases, there are heart-wrenching pains for families. Statistics show that there are more than 7,000 known rare diseases in the world, of which 95% have no effective treatment drugs.

Studies have shown that more than 80% of rare diseases are caused by genetic factors, and more than 50% of rare diseases occur at birth or in childhood.

No one would remain indifferent seeing such a scene——

Xiao Duoduo (pseudonym), a teenager, was tortured by "stone man syndrome" - progressive ossific fibrodysplasia ossificans progressiva, which made him skinny and short, like a child of seven or eight years old. The abnormal ossification of the hip, knee and elbow joints made him unable to move. Lying in the hospital bed, he could not even do the most basic turning over. When others turned him over, it was like turning over a piece of hardwood.

As a congenital disease caused by gene mutation, "stone man syndrome" is a rare disease among rare diseases. According to the international patient organization "Focus on Fibrodysplasia Ossificans Progressiva", the incidence of "stone man syndrome" in my country is between one in a million and two in a million. The onset age is early, and some babies within one month of birth will show early symptoms, but the patients' intelligence is not abnormal.

The reporter learned from the interview that doctors and medical examiners currently have insufficient knowledge of "stone man syndrome". The relevant diagnosis and testing takes a long time and transfers to multiple hospitals, which can easily delay the treatment of patients. At present, the disease has not been included in the list of rare diseases in my country.

Faster and more accurate diagnosis! Let more patients with rare diseases be "seen"

There are many types of rare diseases, low incidence rates, and few clinical studies, which have become a major medical problem faced by mankind. However, due to the large population base, the absolute number of patients with rare diseases in my country is actually not small.

The "2019 Comprehensive Social Survey Report on Rare Disease Patients in China" shows that more than 70% of doctors do not understand the basic diagnosis and treatment of rare diseases, resulting in 42% of rare disease patients being misdiagnosed and 40% of rare disease patients taking more than a year to be diagnosed.

"The high technical threshold required to diagnose rare diseases is a key factor in the difficulty of diagnosing rare diseases." Li Linkang, executive director of the China Rare Diseases Alliance, said that many hospitals do not yet have the technology to diagnose rare diseases. In addition, the number of patients with rare diseases is small, the corresponding testing items and equipment are expensive, and general hospitals lack the ability to carry out related testing projects.

At present, with the National "Two Sessions" about to be held, some CPPCC members have put forward suggestions, including jointly exploring the medical insurance mechanism for rare disease drugs and incorporating relevant drugs into commercial health insurance, in order to more vigorously solve the problems of patients' difficulty in using medicines and seeing doctors.

In addition, considering that 80% of rare diseases are related to genetic mutations, it is equally important to strengthen related prevention and screening.

Fighting against diseases! All parties work together to improve the ability to prevent and treat rare diseases

We used to think that patients with rare diseases must be few in number. However, in China and even the world, with a huge population base, the total number of patients is staggering. Unfortunately, most of these patients have to face this rare life with a small probability since childhood.

Paying attention to the treatment of rare diseases means paying attention to the future of each of us. Rare diseases are the result of common diseases developing to the extreme, and are also the inevitable result of the subdivision of diseases. Paying attention to and studying rare diseases and getting to the essence of rare diseases will also be beneficial to the treatment of common diseases, and ultimately all of us will benefit. Therefore, patients with rare diseases are not a burden to us, and the sky-high price of "orphan drugs" is no longer irrelevant to us.

121 rare diseases were included in the first list of rare diseases, more than 60 rare disease drugs were approved for marketing, and more than 40 rare disease drugs were included in the national medical insurance drug list... In recent years, my country has never stopped promoting medical insurance for rare disease groups.

Li Linkang said that China is working together to create a "Chinese sample" to crack the problem of rare disease drugs, and to protect the lives of every patient. "It is our common wish and responsibility not to leave any patient behind." With the joint efforts of the National Health Commission, the China Rare Disease Alliance, Peking Union Medical College Hospital, etc., the central special lottery public welfare fund is used to support the rare disease diagnosis and treatment level improvement project. During the "14th Five-Year Plan" period, the state will allocate 300 million yuan for multidisciplinary cooperative diagnosis and treatment of rare disease patients, genetic testing and consultation of rare disease patients and family members, and training of physicians in rare disease diagnosis and treatment capabilities.

This is not a lonely battle. Since 2018, relevant departments have gone all out to support the prevention and treatment of rare diseases and bring hope to patients. Departments such as health, science and technology, drug supervision, medical insurance, and industry and information technology have worked together to continuously promote the "Chinese solution" to solve the problem of rare disease prevention and treatment.

On the 15th International Rare Disease Day

We wish every patient with a rare disease the best

Peace and happiness

Just like a blessing

The life of each of us is the same

Nothing is different because of rarity

Accepting the special existence

Embrace the rare life

We will walk with you!

Comprehensive sources: Xinhua News Agency, Beijing News, Beidou Media, etc.