Rare disease care: Precise diagnosis, innovative treatment highlighted
With World Rare Disease Day falling on Friday, local medical experts in Shanghai are calling for higher awareness about rare disease diagnosis, treatment, education as well as research on innovative therapies.
Afflictions with incidences lower than 1 per 10,000 are deemed as rare diseases. There are over 7,000 rare diseases worldwide. Nearly 80 percent are inherited, affecting some 350 million people globally and over 20 million in China.
About half of rare disease sufferers are children, with around 30 percent of such children dying before the age of five. Rare diseases are also responsible for 35 percent of deaths of infants younger than a year old.
Among the diseases, Dr Quan Chao from Huashan Hospital highlighted multiple sclerosis (MS) and neuromyelitis optica (NMO), both central nervous system disorders and listed in China's first batch of rare disease category.
Dr Quan Chao in an educational event of World MS Day.
Both diseases are known for their frequent relapses and can cause disability and even death. The diagnostic and treatment ability on the two diseases is currently lacking in the country along with patients' access to high-quality service, the availability of drugs and inter-department cooperation at domestic hospitals.
MS is a disease that causes the breakdown of the protective covering of the nerves. It can lead to numbness, weakness, walking trouble, vision changes and other symptoms. NMO is a central nervous system disorder that causes inflammation in the nerves of the eye and the spinal cord.
"MS is more common in the West, while Asia has a higher incidence of NMO," Quan noted.
"The two diseases have certain similarities and NMO was often misdiagnosed as MS. Actually, their mechanisms and treatment are different. Thanks to the development of precise biomarker testing method now, there are few instances of misdiagnosis. The key is to educate the public and doctors in other departments to have awareness," she said.
Dr Quan Chao (third from right) and her colleagues in rare disease promotion event.
"Since the early symptoms are not significant and can be neglected easily, NMO patients can suffer sudden vision problems or digestive symptoms and they usually visit ophthalmology or digestive disease department. Patients may lose the oppotunity for early diagnosis after doctors fail to idenfity the possibility of a rare disease. In Shanghai, eye doctors in many local leading hospitals have had the awareness and now direct likely patients to our department for further diagnosis."
"The limited availability of effective treatment, rehabilitation and medical insurance coverage can impact patients' treatment and impose a strong burden on them and their family," Quan added.
"Not all the medicines are on the medical insurance list in each province and the coverage is also different. Which is also the reason why we should promote education to arouse public awareness and lobby the government like offering disease education, organizing patients' clubs and calling for more social and governmental support."
Dr Quan Chao (middle) checks the file of a patient.
Apart from timely and acute diagnosis, treatment is the key for rare disease control and management. Innovative medicines such as monoclonal antibody like satralizumab and ocrelizumab have been developed for NMO and MS treatment, respectively, offering hope for patients. Satralizumab, the first and only injectable treatment for NMO, is also listed into the National Reimbursement Drug List covered by medical insurance system last year, giving patients better drug access.
"These medicines have made the diseases treatable and controllable. If patients follow doctors' advice and take medication regularly, they can enjoy a high quality of life," Quan added.
Dr Quan Chao (middle) guides her students.
"With the development of China's medical capability, we have also received some foreign patients, like those from Malaysia and Romania, as some medicines are not yet available in their home countries. It demonstrates Chinese government's support for rare disease."
Quan pointed out that local medical experts are also involved in various medical research and studies on central nervous system disorders.
"We are conducting studies on immunity mechanisms in order to look for new biomarkers for these diseases as well as new methods such as CAR-T therapy for nerve protection and repairs," she said.
