Because the incidence of rare diseases is very low, the research resources they can get are very limited. Some pharmaceutical companies also lack interest in the research, development, manufacture or introduction of drugs and foods for rare diseases based on economic interests. The following is my theme about the year of rare medical records in the world, and you are welcome to refer to it ~
Theme of the International Calendar Year of Rare Diseases
International Day for Rare Diseases was initiated by EURORDIS in 2008, and February 29th was designated as the International Day for Rare Diseases, which is a four-year day, meaning rare diseases. Rare? International Day for Rare Diseases aims to promote public and government attention to rare diseases and the problems faced by rare disease groups, and calls on all parties to take active actions to fight against rare diseases, a public health problem faced by all mankind. At present, more than 40 countries and regions have held various forms of activities during the rare disease days every year.
The first meeting
Organized by Eurodis and actively participated by about 20 European countries, the first International Day for Rare Diseases was successfully held in European countries, which promoted social awareness of rare diseases through various activities. Some governments are also actively involved, strongly calling on the society to recognize rare diseases and urging pharmaceutical companies to develop drugs to treat rare diseases. The first International Day for Rare Diseases has received positive responses from many countries in the world.
The second meeting
On February 28th, 2009, organizations of rare diseases in more than 30 countries, including Europe, North America and Latin America, participated in the second International Day of Rare Diseases. The theme is that all sectors of society should unite to raise public awareness of rare diseases, understand the impact of rare diseases on patients' lives, provide patients with medical information, coordinate the policy-making activities of rare diseases in various countries, and promote patients with rare diseases to obtain care and treatment. China's chinese baby Caring Association also participated in the second International Day for Rare Diseases.
Third session
February 28th, 20 10 is the International Day for Rare Diseases. 20 10 theme of international day for patients and researchers with rare diseases: partners of life! ? Patients and researchers: partners of life
Fourth session
20 1 1 February 28th is the International Day of Rare Diseases.
20 1 1 the theme of international rare disease day, but equal to? Rare, but equal? Concern:
★ Health gap of patients with rare diseases in different countries and different regions within the same country.
★ And advocate the health gap between patients with rare diseases and other members of society.
★ Advocate equal access to medical and social services for patients with rare diseases.
Equal enjoyment of basic social rights such as health, education, employment and housing.
★ Equal access to orphan drugs and treatment
Fifth session
February 29th, 20 12 is the International Day for Rare Diseases.
What is the theme of 20 12 International Day for Rare Diseases? We're together? What is the slogan? You and I hand in hand, love is not rare? .
Sixth session
February 28th, 20 13 is the International Day for Rare Diseases.
20 13 theme of rare diseases day: rare diseases have no borders.
Seventh session
February 28th, 20 14 is the International Day for Rare Diseases.
20 14? International Day for Rare Diseases? What's the theme? Care? Call on the public? * * * Provide better care (for rare patients)? .
Eighth session
February 28th, 20 15 is the International Day for Rare Diseases.
20 14? International Day for Rare Diseases? What's the theme? Change begins with understanding?
Rare disease types
Rare disease: also known as? Orphans? , refers to the low prevalence and rare diseases, generally chronic and severe diseases, often life-threatening. The World Health Organization defines rare diseases as diseases or pathological changes with the number of patients accounting for 0.065% ~ 0. 1% of the total population. There are five or six thousand internationally recognized rare diseases, accounting for about 10% of human diseases. About 80% of rare diseases are caused by genetic defects.
The last day of February is World Rare Disease Day, and this year's World Rare Disease Day is February 28th. Gao Xue's disease, Fabry's disease, Pompeii's disease, mucopolysaccharidosis, phenylketonuria, thalassemia, osteogenesis imperfecta (commonly known as glass doll), hyperammonemia, organic acidemia, Wilson's disease, etc. Among many rare diseases, less than 1% have effective treatment schemes, such as Gaucher's disease and Pompeii's disease. Luoyang net, let me learn about these rare diseases in the world with you.
Porcelain dolls? Osteobrittle disease
They are as petite and lovely as dolls, but a hug, a quilt kick, or even a laugh when watching cartoons may make them collapse.
Osteogenesis imperfecta (OI), also known as brittle bone disease, has an incidence of about one in ten thousand to one in fifteen thousand. There are about 654.38+million patients in China, which are dominant genetic diseases. At present, the disease is divided into eight types, generally manifested as bone fragility and bone deformity. In severe cases, a gentle hug can also lead to fractures, and if it is not treated in time, it will be disabled for life. The main features are frequent fractures, short stature, progressive hearing loss and blue sclera. Because patients are prone to fracture, so commonly known as? Porcelain dolls? There is no cure, but medication and orthopedic surgery can significantly improve the quality of life of patients.
Yuezi? albinism
Their hair and skin are as white as moonlight, which makes them easily sunburned by the sun. Moonlight is their paradise.
Albinism is mostly autosomal recessive inheritance, and the incidence rate in the population is about115000. Based on this, it is speculated that there are about 90,000 albinos in China. Albinism leads to melanin or melanosome biosynthesis defects, and patients' skin and hair are albino, and they are prone to sunburn. Most of them have nystagmus, fear of light and low vision. At present, albinos are afraid of the sun and are prone to sunburn, which makes them seldom go outdoors when the sun is strong during the day and feel free when there is a moon at night, so people call them affectionately? Yuezi? .
Sticky baby? Mucopolysaccharide storage disease
? Not long or not long? It is the doctor's prediction for many clingy babies, but they also want to grow sturdily like all children.
Mucopolysaccharidosis is a rare congenital metabolic disorder. Patients lack lysosomal enzymes, which can not decompose mucopolysaccharides, so that mucopolysaccharides accumulate continuously, which affects the normal function of cells and destroys many organs of the body, such as the brain, heart valves, lungs and bones. Therefore, most patients die of respiratory and cardiovascular diseases in adolescence. Mucopolysaccharide storage disease type 2 is X-linked recessive inheritance, and other types are autosomal recessive inheritance. At present, there are enzyme replacement therapy drugs for some subtypes of mucopolysaccharide storage disease abroad, but these drugs have not been listed in China. Even if it goes on the market, the annual cost is as high as/kloc-0 to 2 million, which requires lifelong medication. Without the support of medical insurance, most families can't afford it. Hong Kong and Taiwan Province Province have included mucopolysaccharide drugs in medical insurance, and Taiwan Province Province even reimbursed them in full. Families with sticky babies in Chinese mainland are also eagerly looking forward to the early arrival of the medical insurance system for rare diseases.
Children who don't eat cigarettes? Phenylacetonuria
This is a group of out-of-touch children. Meat, eggs and milk, our favorite foods, have never been tasted since birth.
Phenylketonuria (PKU) is a congenital metabolic disease. Due to the enzyme defect in phenylalanine metabolic pathway, phenylalanine cannot be converted into tyrosine, which leads to the accumulation of phenylalanine and its keto acid and its excretion from urine. The main clinical manifestations are mental retardation, seizures and hypopigmentation. The disease belongs to autosomal recessive inheritance. The incidence varies according to race, and it is about114000 in the United States, 1/60000 in Japan and1/6500 in China. If not treated in time, it will cause different degrees of damage to the brain or nervous system, bring lifelong pain to patients, and even endanger life. Most patients will have clinical symptoms in infancy, which will get worse with age. Because patients can't convert phenylalanine in common foods containing protein, the intake of common foods containing protein such as meat, fish, eggs, milk and beans should be strictly controlled. At present, the treatment of PKU is mainly diet therapy, which ensures a normal life by taking special food without phenylalanine.
haemophilia
They are like glass, and every bump and injury is a great danger to them.
Hemophilia is a hereditary hemorrhagic disease, the patients are generally male, and the incidence rate is about 5/100000. There are about 700-65438+ ten thousand people in China. The patient was bleeding due to the serious lack of coagulation factors in the body, and the bleeding sites were joints, muscles and internal organs. Patients are often disabled due to repeated joint bleeding, or die from internal organs and cerebral hemorrhage. At present, there is no cure for this disease, and patients need to use coagulation factors for life, but preventive treatment can make hemophilia children grow up as healthy as normal children. At present, due to the shortage and high price of blood products in China, many children cannot get timely and effective treatment and become disabled.
lymph angioleio myomatosis
Free breathing is their biggest dream.
Lymphangioleiomyomatosis is a rare disease. Almost all cases occurred in women, mainly women of childbearing age, with an average age of 30-40 years. Pneumothorax and chylothorax are usually the first symptoms of LAM and can appear repeatedly. With the development of the disease, there will be dyspnea, progressive aggravation, and finally more serious respiratory failure. At present, no more than 200 cases have been reported in China. LAM patients are mostly at the age of family and social responsibility, but they are trapped by the disease and lose their normal work and life.
idiopathic pulmonary arterial hypertension
Walking 100 meters and climbing a floor are all extravagant hopes for them.
Idiopathic pulmonary hypertension (IPAH) refers to other systemic diseases and related clues that cause pulmonary hypertension that have not been found through detailed physical examination and perfect laboratory examination, and pulmonary capillary entrapment pressure >: 20mmHg is found through right heart catheterization. According to American research data, the annual incidence rate is about1~ 21000,000, and the incidence rate of women is higher than that of men, with a ratio of about. Idiopathic pulmonary hypertension is an extremely malignant disease. Its natural course is short, and patients often develop rapidly. Without proper treatment, they will soon die of intractable right heart failure, with an average survival time of 2 ~ 3 years. Its treatment is difficult, its prognosis is poor, and its severity even exceeds that of cancer. It's called by doctors? Cancer in heart disease? . Although pulmonary hypertension cannot be cured at present, patients can effectively improve their quality of life through regular treatment and targeted drug treatment, and patients with advanced pulmonary hypertension can prolong their survival through bilateral lung transplantation.
Bow? Tuberous sclerosis
Butterfly nodules on their faces, epilepsy and possible mental retardation make it difficult for them to face the crowd with confidence.
Tuberous sclerosis (TSC) is an autosomal dominant genetic disease involving multiple systems, which can affect children and adults. The incidence rate is about 65,438+0/65,438+0,000, and there are more than 65,438+0,000 patients in China. The main manifestations are epilepsy, skin lesions (such as sebaceous adenoma with reddish face and butterfly distribution) and benign tumors of multiple organs. The mental development of some patients was affected, 1/3 female patients had lymphangiomyomatosis in the lungs. The gene mutation of TSC occurs in TSC 1 or TSC2, which leads to out-of-control cell growth. TSC cannot be detected during pregnancy. Most patients have no symptoms before onset, so it is impossible to predict how patients will develop and what symptoms they will have. Tuberous sclerosis has brought great psychological pressure to patients and their families, which requires more social understanding and attention, regular physical examination and professional psychological counseling to help them embark on this uncertain life journey.
Penguin family? Hereditary ataxia
They walk like penguins and are affectionately called penguin family.
Hereditary ataxia is a hereditary neurodegenerative disease, commonly known as? Cerebellar atrophy? . It is caused by gene mutation, and there is no radical cure, which belongs to the category of rare diseases. The symptoms of hereditary ataxia are: walking trembling, slurring speech, choking on drinking water, seeing things in pairs until swallowing is difficult. The onset age is mostly between 25 and 45 years old. Once you get sick, it will run to the end of your life in 10-20 years, just like a car with broken brakes. There are about100000 * * * ataxia patients in China, 60% of whom live in rural areas and 40% in cities. * * * The disease characteristics of ataxia patients are that they are far away from the society, facing loneliness all day long and helplessly coming to the end of their lives.
Niemanpick's disease
They have lovely smiling faces like apples, but their bodies are also like apples, which are gradually eroded by diseases with the passage of time.
Niemann-Pick Disease (NPD), also known as sphingomyelin lipodystrophy, is an autosomal recessive congenital lipid metabolism disease with an incidence of about 65,438+0/25,000. So far, there are four types, the main symptoms are hepatosplenomegaly and nervous system damage. At present, there is no specific treatment for Niemann Pike's disease, mainly symptomatic treatment, low-fat and low-cholesterol diet and strengthening nutrition. Among them, in the symptomatic treatment, children with type C neurological symptoms need to take antiepileptic drugs, nutrition and health products, ultrasonic atomization and expectoration, wheelchairs and other drugs and medical supplies for a long time. Domestic medical institutions know little about the disease, there are no symptomatic drugs in the world, and the families of children lack knowledge of disease health care.
Progressive muscular dystrophy
Time is precious to them, and muscle atrophy day by day will eventually take away their mobility.
Du Xing/Becker muscular dystrophy (DMD/BMD) is a serious neuromuscular hereditary disease. The incidence of DMD in boys is about 1/3500, and the incidence of BMD in boys is about1/5 ~1/0, with a total of 654338 patients. Due to gene defect, patients with muscular dystrophy can't synthesize normal dystrophin, and the muscle cell membrane loses its complete skeleton, which leads to the damage of muscle cell membrane and the progressive destruction of muscle cells. The main clinical manifestations are progressive atrophy of skeletal muscle, gradual decline of muscle strength and loss of mobility. Due to the progressive destruction of muscle cells, DMD patients usually lose their walking ability before 12 years old, and eventually die of cardiopulmonary failure at the age of 20 to 30. Because part of dystrophin can remain in the body, BMD patients usually have a late onset (5- 15 years old), with mild clinical manifestations and relatively slow development, and their life expectancy is generally over 50 years old. At present, there is no specific medicine and radical cure for muscular dystrophy, but through drug control and rehabilitation exercise, the survival time of patients can be prolonged and the quality of life can be improved.
Gaucher's disease
They are lucky because they are one of the few rare diseases with drug treatment; They are also unfortunate. Life-long medication, high medical expenses and lack of medical insurance cast a shadow over their lives.
Gaucher's disease is an autosomal recessive genetic disease caused by gene or gene mutation. The incidence rate is about one in 100,000, which is due to the acidity in lysosomes. -The defect of glucosidase, also known as glucocerebroside enzyme, makes glucocerebroside accumulate in the mononuclear phagocyte system of various organs and form Gaucher cells. Often manifested as multi-system lipid deposition, involving bone marrow, liver and spleen, bones and nervous system. Gaucher disease can lead to pain, fatigue, jaundice, bone injury, anemia and even death. At present, enzyme replacement therapy can alleviate the symptoms of Gaucher's disease and improve the quality of life of patients.
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