Since 2008, the last day of February has been designated as International Rare Disease Day. What are the main problems facing rare disease diagnosis and treatment in Guangdong? Guangzhou Women and Children’s Medical Center is one of the two leading units of the Guangdong Rare Disease Diagnosis and Treatment Network. Recently, a reporter from Nandu interviewed Guangzhou Women and Children’s Medical Center on these issues. Liu Li, director of the Department of Genetics and Endocrinology, and chairman of the Rare Diseases Branch of the Guangdong Medical Association.
The most registered rare diseases are optic neuritis and hemophilia
Southern Capital: How many rare patients are there in Guangdong? What are the most common rare diseases in Guangdong?
Liu Li: By the end of 2021, more than 45,600 patients have been registered in our province’s rare disease cooperation network hospitals, and our hospital has registered nearly 19,000 cases. The most registered are optic neuritis, hemophilia, and idiopathic pulmonary hypertension, retinoblastoma, these are the top few.
Among the rare diseases registered in Guangzhou Women and Children’s Medical Center, hemophilia ranks first, hepatolenticular degeneration is the second, and retinoblastoma is the third. Since the incidence of rare diseases is more common in infants and young children, the number of patients in our hospital is relatively large, accounting for nearly half of the registered in the province.
There are more ways to find drugs for rare diseases
Nandu: What are the common dilemmas faced by rare disease patients at present? Is there any progress in helping rare patients to solve their dilemmas?
Liu Li: Generally speaking, the three major dilemmas of rare diseases are what we often say, and they are also the greatest hope of rare patients, namely: the disease has a doctor, the doctor has the medicine, and the medicine has the guarantee.
All three are improving. In terms of diagnosis and treatment, many hospitals have joined the rare disease cooperative network, the training on rare diseases has been enhanced, there are more rare disease outpatient clinics, and more doctors can undertake the diagnosis and treatment of at least common rare diseases.
The problem of medicines, not very expensive medicines, was out of stock in the past three days, but now there are more ways to find medicines. Last year, under the guidance of the Guangdong Provincial Health and Health Commission, a small program “Guangdong Province Drug Supply Guarantee for Shortages” was launched to help patients find medicines (this small program has been embedded in the “Guangdong Health Information” and “Guangdong Health Online” public accounts, and has The mobile application market of Android system and IOS system will be launched in the form of APP), and our public account of Guangdong Rare Disease Diagnosis and Treatment Cooperation Gateway Love Center will also provide drug information and provide corresponding guidelines. We have also established various WeChat groups for patients to help patients help each other.
Of course, rare diseases are chronic diseases. Long-term impoverishment is more common, putting a lot of pressure on poor families, and families will collapse. They need social attention and feasible insurance or medical insurance. At present, more drugs for rare diseases have been included in the basic medical insurance drug list, which is of course a great progress, but to truly protect the treatment and drug use of rare patients, a more complete protection mechanism for serious diseases is needed, and the medical insurance that patients urgently need It is to have adequate protection in the event of a serious illness.
Guangdong has established a two-way referral process for rare diseases
Southern Metropolis: In 2019, the Guangdong Provincial Health and Health Commission took the lead in establishing the Guangdong Provincial Rare Disease Diagnosis and Treatment Collaboration Network, with the Guangzhou Women’s and Children’s Medical Center. The center and the First Affiliated Hospital of Sun Yat-sen University are the lead hospitals, 13 hospitals including Sun Yat-sen Memorial Hospital of Sun Yat-sen University are member hospitals, and the Guangdong Provincial Center for Disease Control and Prevention is the assisting testing institution. What work has the Diagnosis and Treatment Collaboration Network done?
Liu Li: Since 2019, the voices about rare diseases have been getting louder.
The main work of the collaboration network is: firstly, register, register the rare patients diagnosed by the hospital into the national system, and our rare patient data is also obtained in this way; secondly, receive patients , Our hospital has opened a special rare disease clinic, which can be found and registered online. The third is multidisciplinary consultation, remote consultation, and two-way referral. Play the role of resource co-ordination. Because rare diseases often involve multiple disciplines and are often an overall problem, they require the integration of multidisciplinary resources and require multidisciplinary diagnosis and treatment outpatient clinics. For example, as the leading hospital of the diagnosis and treatment network, we have established a leading group for rare diseases, and all specialties have been included, and a special cooperation mechanism has been established.
In addition, rare patients involve the process of two-way referral. For example, if a primary hospital suspects a patient is a rare disease, they can ask our hospital for consultation, and when necessary, they will be transferred for diagnosis and treatment. The patient goes back for follow-up. This is called a two-way referral. We have established a two-way referral process.
Another work is to carry out training. We regularly send at least 121 diseases (121 rare diseases listed in the “First Batch of Rare Diseases List” released by my country in 2018) to the provincial two. Hospitals above A and above will speak once in turn, and also popularize science with the public in the public account.
Diagnosis of rare diseases is difficult, and the level of diagnosis and treatment in Guangdong is relatively high
Nandu: What is the level of rare disease diagnosis and treatment in Guangdong in the country?
Liu Li: Relatively Said it was good. Previously, a rare disease research organization conducted a sample survey on a rare disease group in Guangdong, sampling more than 1,000 patients and more than 800 valid questionnaires. The survey found that 87% of patients in Guangdong were diagnosed and treated in the province, nearly 30%. % of the patients were diagnosed within 3 months, about 30% of the patients were diagnosed within 3 months to 1 year, 40% of the patients were diagnosed more than 1 year, and about 10% of the patients were diagnosed for more than 5 years. The average diagnosis cycle is more than 2 years. Generally speaking, the diagnosis and treatment of rare diseases are often delayed due to the difficulty of diagnosis. Relatively speaking, the level of diagnosis and treatment in Guangdong Province is still relatively high.
Rare diseases can be considered if the disease cannot be cured repeatedly.
Nandu: How to detect rare diseases early?
Liu Li: If your disease cannot be cured repeatedly If it is not clear, it is necessary to think about whether it is a rare disease and to identify it. Some rare diseases are treatable and have a chance to be cured. There are also some rare diseases that have family inheritance, and genetic counseling is needed when they are clear.
Written by: Southern Metropolis reporter Li Wen, intern Wu Xinyu