In China, patients with rare diseases are not rare. In fact, the country has more than 20 million people struggling with rare diseases. They run helplessly from one hospital to another to find answers for their illness. They may finally get diagnosed, but they still have to face the hopeless situation of no effective treatment. So what should they do?
In 1936, four doctors from PUMCH published a 12-page article in the Journal of Clinical Investigation. The article reported the diagnosis and treatment of the first case of insulinoma in China as well as the findings from the innovative basic and clinical studies, which were quite instructive in 1930s.
The century-old history of PUMCH is a history of the fight against rare diseases. In the past 30 years alone, the hospital has hospitalized more than 17,000 patients with rare diseases listed in the List of Rare Diseases (First Batch). The rich experience of PUMCH in diagnosing and treating rare diseases should be brought to other hospitals across China.
Improve Doctor Knowledge As First Step to Build Platform for Hierarchical Diagnosis and Treatment of Rare Diseases
Only a few doctors in China have knowledge about rare diseases, and the number is even smaller for doctors who can diagnose and treat rare diseases. Therefore, making more doctors know about rare diseases and more public members understand the diseases would be the first step to build a system of hierarchical diagnosis and treatment of rare diseases.
Commissioned by the National Health Commission’s Bureau of Medical Administration, in 2017 PUMCH led a team to discuss the list of rare diseases. In May 2018, five state authorities released the List of Rare Diseases (First Batch) in China, and the move marked the start of a joint battle against rare diseases. Afterwards the hospital has organized medical specialists to publish two new books titled "Interpretation of the List of Rare Diseases (First Batch)" and "Guidelines on the Diagnosis and Treatment of Rare Diseases", which elucidated definitions, pathogenesis, clinical symptoms, auxiliary examinations, differential diagnosis, and treatments of 121 rare diseases and offered clear-cut pathways for the management of these diseases. These three books have become the “blue books” for building the systems of hierarchical diagnosis and treatment of rare diseases.
Build network of hierarchical diagnosis and treatment to combat rare diseases
Rare disease cases are scattered and involve multiple disciplines. Only centralized management and two-way referral can improve the overall quality of diagnosis and treatment. In October 2018, PUMCH led the establishment of China Rare Diseases Alliance, with Dr. Zhao Yupei, President of the PUMCH, as chairman. In February 2019 the National Health Commission’s Bureau of Medical Administration announced the establishment of a national collaborative network for the diagnosis and treatment of rare diseases under the model of “1+32+291”, in which PUMCH was the only national initiator of the network, which also includes 32 provincial centers and 291 municipal hospitals. The national network aims to achieve early identification and diagnosis of rare diseases and ensure effective treatment and management of rare diseases.
Niu Niu, a three-month-old infant, was the first child to benefit from the collaborative network. Her mother felt that fetal movement decreased in the third trimester, and the infant suffered from hypotonia after birth. No significant improvement was made after she received treatment in a municipal hospital in Shandong Province. She was later transferred to Shandong Provincial Hospital, a member of the collaborative network. After health examinations the hospital found no abnormal conditions in the baby; it was suspected that Niu Niu had Prader-Willi Syndrome and she was then sent to PUMCH, the initiator of the network, for further examinations. The diagnosis was confirmed in PUMCH after methylation test and an early intervention protocol was established for her. It was indeed a miracle to diagnose a rare disease for a baby of three months old. The system of hierarchical diagnosis and treatment is bringing fresh hope to rare disease victims and their families.
Enhance core competence in diagnosis and treatment and ensure balanced distribution of quality medical resources
PUMCH is the only national hospital member of the collaborative network. Thanks to the concerted efforts of the Division of Medical Affairs, Office for Outpatient Management, Division of Information Management, Division of Medical Records, and many clinical departments and laboratories, the hospital has established and optimized work mechanisms, launched targeted training programs, and received some critically-ill rare disease patients transferred from other hospitals.
In a Thursday noon, some 30 specialists from 11 clinical departments and other hospitals gathered in an MDT room to discuss treatment plans for two patients with spinal muscular atrophy (SMA). They discussed how to achieve the accurate intrathecal injection of nusinersen, the first and only approved treatment for SMA. Both two patients have been struggling with the illness since childhood, and they managed to survive thanks to good care of their families. They had worked for some time, but now they are unable to raise their hands, swallow a little hard food, and even hold up head.
In the noon of many Thursdays, many experts could not hold back their tears after their patients passed away, and they continued to join the systematic analysis, intensive discussions, and in-depth exchanges. They shared a common goal - improve the quality or the length of survival until curative medicines will finally be available.
In 2018, a popular film “Dying to Survive” rekindled public attention to the scarcity of rare disease medicines. During the direct purchase of orphan drug “mitotane”, PUMCH has played a substantial role. In order to remove obstacles for patients to buy and use rare disease drugs, President Zhao Yupei has arranged several meetings with hospital leaders. After nine months of persistent efforts and thanks to direct support from several government authorities, PUMCH directly bought 100 bottles of mitotane from the foreign drug manufacturer. Testing for blood drug concentration helped to meet the patients’ therapeutic demands and ensured medication safety. The successful practice has marked an ice-breaking attempt for direct purchase of rare disease medicines from foreign pharmaceutical companies.
Research brings hope for a better future of hierarchical diagnosis and treatment system
Getting a clear picture about rare disease in China is helpful for drug research and development. In the recent three years PUMCH has led a national clinical research project - “Research on the Clinical Cohorts of Rare Diseases in China”, which facilitated the establishment of China’s first rare disease registry. Roughly 42,000 patients with 140 rare diseases have been registered, offering a clear picture about the prevalence rates of rare diseases in China. The system has provided us with information about individual patients’ symptoms/signs, medical histories, imaging findings, and bio-informatics, which are particularly valuable for the R&D of smart diagnosis system, new therapeutic strategies/tools, and new drugs.
China has been stepping up efforts to set diagnosis & treatment standards for rare ailments and ensure steady drug supply. Thanks to significant government attention and robust policy support, 55 drugs for rare diseases have been marketed in China, with 32 on the drug catalogue of medical insurance, shedding new light on the management of rare disease patients.
China’s rapid progress is also earning plaudits from the international community. On February 21, 2019 Prof. Zhang Shuyang, Vice President of PUMCH, was invited to the United Nations Headquarters to introduce PUMCH’s solutions and China’s policy measures in the fight against rare diseases. The innovative service model, which was initiated by the government and participated by various stakeholders, integrated multidisciplinary diagnosis & treatment systems, clinical research, medical education & training, orphan drug R&D, social security, and patient care. These efforts won widespread praises from the international society.