The last day of February every year is International Rare Disease Day. Although the incidence is low, the number of rare diseases is as high as 6000-8000, and the population involved is still huge. How to get more effective treatment for "niche diseases"? On February 25th, jiangsu provincial people's hospital (the first affiliated hospital of Nanjing Medical University) neurology, nephrology, hematology, reproductive medicine, cardiovascular, endocrinology, radiology, pediatrics, rehabilitation and other multidisciplinary experts held the International Rare Disease Day free consultation, providing a series of medical professional consultations for rare disease patients such as diagnosis, treatment, nutrition, rehabilitation, family management and so on.
Not all rare diseases require high-priced drugs
Niu Qi, deputy director of the Department of Geriatric Neurology of the First Affiliated Hospital of Nanjing Medical University (Jiangsu Provincial People's Hospital), told the Yangtze Evening News/Purple Cow News reporter that there are 6,000-8,000 rare diseases, involving various organs throughout the body. Some rare diseases can be completely cured, some have a certain therapeutic effect, and some rare diseases are unfortunately not treated.
In recent years, rare diseases have appeared in everyone's field of vision, often associated with "sky-high drugs", but in fact, not all rare diseases can only be treated by "high-price drugs". Chief physician Niu Qi to lipid deposition as an example, lipid deposition patients because of a defect in the body of an enzyme, fat metabolism will be deposited in muscle cells, patients will appear muscle atrophy weakness, general weakness symptoms, serious even chewing are difficult, but if you can accurately diagnose, the treatment of lipid deposition is particularly simple, only need to supplement vitamin B2 can be, the cost of treatment is very small. There are also some rare diseases whose symptoms do not have a great impact on life, or the progression of the disease can be controlled through simple treatment. Patients should not lose confidence because they have a rare disease.
Symptoms of many rare diseases are atypical
Mao Huijuan, deputy director of the Department of Nephrology of the First Affiliated Hospital of Nanjing Medical University (Jiangsu Provincial People's Hospital), also introduced the rare disease of Fabre disease to reporters. Because of the lack of an enzyme in fabre disease, the products of metabolism will be deposited on tissues and organs, which will cause kidney failure and also affect organs and systems such as the heart, nerves, and skin. In fabre disease patients, death can be 10 years or more earlier.
"The symptoms of people with Fabre's disease are very atypical." Chief physician Mao Huijuan said that she once met a teenage fabre disease patient, initially only had numbness and pain in the hands and feet, not easy to sweat in the summer, there are some "small pieces" on the skin, the family feel that it is not a problem. Until there was a little swelling of the face and legs, proteinuria kidney function is not good, "we gave him a kidney puncture, found a characteristic change in the renal body, suspected fabre disease, after further examination to confirm the diagnosis." Chief physician Mao Huijuan said that later, looking back at the family history, it was found that the child's grandfather died in his 30s, and his mother also carried disease genes, which is a Fabre disease family.
Treatments for Fabre disease cost millions a year. Fortunately, the patient only began to treat for about 3 weeks, the drug was included in medical insurance through "soul bargaining", and the annual cost dropped to about 20,000 yuan, which greatly reduced the burden on the family.
Recognition is the first step, and early diagnosis buys time for treatment
Niu Qi introduced that the types of rare diseases are complex, mainly distributed in neurology, pediatrics, endocrinology, cardiovascular, rheumatic immunology, hematology and other departments. Rare diseases are difficult and rare, the symptoms are not typical, involving multiple systems and disciplines, so it brings great difficulties to diagnosis and treatment. In the case of Fabre disease, for example, many patients cannot be diagnosed until ten or twenty years later, and the delay rate of diagnosis is very high.
At present, the country has set up a national rare disease diagnosis and treatment collaboration network, one of the important tasks of the collaboration network is to strengthen the training of doctors, doctors accumulate more knowledge about rare diseases, more understanding of the disease, in order to shorten the diagnosis time of patients. At the same time, it is also recommended that patients and their families believe in science in the process of diagnosis and treatment of diseases, and must find professional and qualified doctors for medical treatment and scientific treatment, in order to avoid detours, it is possible to win treatment time and the best treatment effect.
Correspondent Dong Ju
Yangzi Evening News/Purple Cow News reporter Yang Yan
Proofread sheng yuanyuan