[International Rare Disease Day] Rehabilitation Medicine Department shares beautiful colors with your baby

The last day of February every year is International Rare Disease Day. This year's theme is "Share your colours". Compared with the number of people suffering from common diseases, the number of people with rare diseases is relatively small, but the actual absolute number is not small. There are more than 7,000 known rare diseases in the world, with a total of more than 300 million people. About 80% are hereditary diseases, and about 50% of them start in childhood. The average diagnosis cycle is 5 years. More than one-third of them require more than 5 doctors to finally diagnose. The misdiagnosis rate is high. They often involve multiple systems and organs of the human body, and develop in a chronic, progressive, and exhausting manner. Most of them are lifelong diseases or cause disability. Severe cases can be life-threatening and require long-term or even lifelong treatment. Rare diseases have become a major public health issue shared by the world.

There are more than 20 million rare disease patients in my country, with more than 200,000 new cases each year. In order to strengthen the management of rare diseases in my country and improve the diagnosis and treatment capabilities of rare diseases, in 2018, the National Health Commission, together with relevant departments, issued the first batch of rare disease catalogs, which clarified the concept and scope of rare diseases in my country, delineated the scope of management, and provided an important basis for various departments to formulate policies related to rare diseases.

In 2019, the National Health Commission established a national rare disease diagnosis and treatment cooperation network and established a two-way referral and remote consultation system for rare diseases within the cooperation network. In the same year, the first "Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 Edition)" was also released in China. The guidelines cover 121 rare diseases and elaborate on their definitions, causes and epidemiology, differential diagnosis and treatment, and diagnosis and treatment processes. It provides a full range of policy measures to improve my country's rare disease diagnosis and treatment capabilities and safeguard the health rights and interests of rare disease patients.

In 2020, the National Health Commission's "13th Five-Year Plan" textbook "Rare Diseases" was officially released, filling the gap in the field of rare diseases from the medical education level for the first time. It hopes to cultivate more qualified rare disease-related medical and health workers, thereby enhancing the medical workers and even the whole society's awareness and attention to rare diseases, and establishing a scientific, systematic and standardized rare disease diagnosis and treatment model.

By the end of 2021, more than 60 rare disease drugs were approved for marketing in my country, and more than 40 of them have been included in the national medical insurance drug list, involving 25 diseases. Through the negotiated access of rare disease drugs, the prices of rare disease drugs have been greatly reduced, bringing hope to many families with rare diseases. Recently, the National Health Commission has launched the selection of the second batch of rare disease lists, which is in the stage of material review. As of early February this year, more than 200 relevant materials submitted by relevant departments for applications to increase the number of diseases have been received.

At present, my country's rare disease disciplines have formed a collaborative innovation system for rare diseases covering the entire life cycle and the entire process of diagnosis and treatment, including cohorts, mechanisms, screening, diagnosis and treatment, rehabilitation, and management.

Rehabilitation treatment for rare diseases is very important

Early rehabilitation intervention can help improve the clinical treatment effects of patients with rare diseases, alleviate clinical symptoms, improve residual functions, delay disease progression, etc., maximize the potential of patients, delay the loss of their self-care ability and help them recover, relieve chronic pain, and enable patients to regain the ability to live independently and work skills as much as possible, return to school and society, and return to normal life.

For example, patients with hereditary spastic paraplegia should adhere to long-term active rehabilitation treatment under the guidance of rehabilitation physicians and therapists with experience in treating related diseases, which will help maintain joint mobility and improve stiffness in both lower limbs.

For example, patients with idiopathic pulmonary fibrosis should undergo individualized pulmonary rehabilitation exercises under the guidance of rehabilitation medicine experts, including respiratory physiology therapy, muscle training (whole body muscle and respiratory muscle training), nutritional support, mental and psychological support, and education.

For example, patients with mucopolysaccharidosis can improve joint stiffness to a certain extent through active rehabilitation treatment, regular follow-up of the spine and joint conditions, and, if necessary, use necessary means (such as brace treatment) to reduce scoliosis.

For example, for patients with progressive muscular dystrophy, although there is currently no cure, standardized drug treatment, rehabilitation training, the use of effective rehabilitation aids, regular follow-up assessment of related system involvement and treatment can significantly delay disease progression, prolong survival, improve quality of life, and maintain better life functions and postures.

——Excerpt from "Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 Edition)"

Rehabilitation helps improve patients' functional impairment

Prevention and treatment of rare diseases should focus on prevention. Most rare diseases are congenital and hereditary diseases. Therefore, premarital examinations, prenatal examinations, and newborn screening can effectively reduce the incidence of rare diseases and long-term health damage. However, due to the lack of epidemiological data related to rare diseases, the medical field's understanding of the incidence of certain rare diseases is still very limited.

At the same time, the society's awareness of rare diseases needs to be improved urgently, and patients with rare diseases also need more attention from the society.