World Rare Disease Calendar Year Theme

Summary of the World’s Rare Disease Calendar Year Topics

Due to the low incidence of rare diseases, the research resources available to them are very limited. Based on economic interests, some pharmaceutical companies There is also a lack of interest in investing in the research and development, manufacturing or introduction of drugs and food for rare diseases. The following is the theme of the world’s rare diseases calendar year that I have compiled. Welcome everyone to refer to it~

The theme of the international rare diseases calendar year

International Rare Disease Day (Rare Disease Day) is organized by the European Rare Diseases Initiated by EURORDIS in 2008, February 29th was designated as International Rare Disease Day. This four-year day means that rare diseases are "rare". International Rare Disease Day aims to promote the public and government's awareness of rare diseases. and concerns about the problems faced by the rare disease community, and calls on all parties to take active actions to fight against rare diseases, a common public health problem faced by all mankind. Currently, more than 40 countries and regions hold various activities during Rare Disease Day every year.

The first session

Under the organization of Eurodis and the active participation of about 20 European countries, the first International Rare Disease Day commemoration event was successfully held in various European countries and promoted through various activities Increase society’s understanding of rare diseases. Governments of some countries are also actively involved, strongly calling on society to understand rare diseases and urging pharmaceutical companies to develop drugs to treat rare diseases. The first International Rare Disease Day received positive responses from many countries around the world.

The second session

On February 28, 2009, rare disease organizations from more than 30 countries in Europe, North America, and Latin America participated in the activities of the second International Rare Disease Day. , its theme is for all parties in society to unite to raise public awareness of rare diseases, understand the impact of rare diseases on patients' lives, provide patients with medical information, coordinate rare disease policy-making activities in various countries, and promote rare disease patients to receive care and treatment. China's Porcelain Doll Care Association also participated in the second International Rare Disease Day event.

The third session

February 28, 2010 is the International Rare Disease Day. The theme of the 2010 International Rare Disease Day is Patients and Researchers: Partners for Life!?Patients and Researchers: Partners for Life

The fourth session

February 28, 2011 is the International Rare Disease Day Rare Disease Day.

The theme of the 2011 International Rare Disease Day is Rare, but Equal? ??Rare, but equal? ??Focus on:

★The existence of rare disease patients in different countries and different regions within the same country Health disparities

★And advocacy for the health disparities that exist between patients with rare diseases and other members of society

★Advocate for patients with rare diseases to have equal access to health care and social services

< p>★Equal access to basic social rights such as health, education, employment, and housing

★Equal access to orphan drugs and treatments

The fifth session

2012 February 29th is International Rare Disease Day.

The theme of International Rare Disease Day in 2012 is "We are together", and the slogan is "You and I join hands, love is not rare".

The 6th

February 28, 2013 is the International Rare Disease Day.

The theme of Rare Disease Day 2013: Rare Diseases without Borders.

The 7th

February 28, 2014 is the International Rare Disease Day.

The theme of International Rare Disease Day 2014 is "Care", calling on the public to work together to provide better care (for patients with rare diseases).

The 8th

February 28, 2015 is the International Rare Disease Day.

The theme of International Rare Disease Day 2014 is "Change starts with understanding"

Types of rare diseases

Rare diseases: also known as "orphan diseases" , refers to a disease with very low prevalence and rareness. It is generally a chronic, serious disease and often life-threatening. The World Health Organization defines rare diseases as diseases or lesions affecting 0.065% to 0.1% of the total population; there are five to six thousand internationally recognized rare diseases, accounting for about 10% of human diseases. Among the wide variety of rare diseases, about 80% are caused by genetic defects.

The last day of February is World Rare Disease Day. This year’s World Rare Disease Day is February 28. Rare diseases that are well-known in China include: Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis, phenylketonuria, thalassemia, osteogenesis imperfecta (commonly known as glass doll), hyperammonemia, Organic acidemia, Wilson's disease, and more. Among many rare diseases, less than 1% have effective treatments, such as Gaucher disease and Pompe disease. Below, Luoyang.com will let you know about these rare diseases in the world.

Porcelain dolls? Osteogenesis imperfecta

They are as petite and cute as dolls, but a hug, a push on the quilt, or even laughing while watching a cartoon may make them fracture.

Osteogenesis Imperfecta (OI), also known as brittle bone disease, has an incidence rate of about 1 in 10,000 to 1 in 15,000. There are about 100,000 patients in China. It is a disease Dominant genetic disease. The disease is currently divided into eight types, which generally manifest as bone fragility and bone deformity. In severe cases, even a gentle hug can cause fractures. If not treated in time, the patient will be disabled for life. The main characteristics are: frequent fractures, short stature, progressive hearing loss, blue sclera of the eyes, etc. Because patients are prone to fractures, they are commonly known as "porcelain dolls". There is no cure, but drug treatment and orthopedic surgery can significantly improve the condition. Patient quality of life.

Moon children? Albinism

Their hair and skin are as white as moonlight, making them easily sunburned. Moonlight nights are their paradise.

Albinism is mostly autosomal recessive, with an incidence rate of about 1/15,000 in the population. Based on this, it is estimated that there are nearly 90,000 albinism patients in our country. Albinism causes melanin in patients Or melanosome biosynthesis defects, the patient's skin and hair appear albino, prone to sunburn, most of them have nystagmus, photophobia, low vision, etc., and there is currently no effective treatment. People with albinism are afraid of the sun and are easily sunburned, which makes them rarely do outdoor activities during the day when the sun is strong. They only feel free and at ease when there is a moon, so people affectionately call them "moon children".

Sticky babies? Mucopolysaccharidosis

? Not growing up or living long? This is what doctors predict for many sticky babies, but they also think about it and all children. can thrive.

Mucopolysaccharidoses (MPS) are a group of rare diseases with congenital metabolic abnormalities. Patients lack lysosomal enzymes and cannot break down mucopolysaccharides in the body, causing mucopolysaccharides to accumulate, affecting The normal function of cells destroys the brain, heart valves, lungs, bones and other organs of the body. Therefore, patients often die in adolescence due to respiratory and cardiovascular diseases. Except for mucopolysaccharidosis type 2, which is inherited in an X-linked recessive manner, all other types are inherited in an autosomal recessive manner. At present, there are enzyme replacement therapy drugs for certain subtypes of mucopolysaccharidosis in foreign countries, but these drugs have not yet been launched in China. Even if they are launched, they will cost up to 1 million to 2 million per year and require lifelong medication. If not Medical insurance support is also beyond the reach of most families. Hong Kong and Taiwan have included mucopolysaccharide drugs in medical insurance, and Taiwan has even fully reimbursed them. Families with sticky babies in mainland China are also eagerly looking forward to the early arrival of the rare disease medical insurance system.

Children who do not eat the fireworks of the world? Phenylketonuria

This is a group of children who do not eat the fireworks of the world. Meat, eggs, and milk, the foods we like, have been with us since birth. I haven't tasted it since.

Phenylketonuria (PKU) is an inborn metabolic disease. Due to an enzyme defect in the phenylalanine metabolism pathway, phenylalanine cannot be converted into tyrosine, resulting in Phenylalanine and its ketoacids accumulate and are excreted in large amounts in the urine. The main clinical manifestations are mental retardation, convulsions and hypopigmentation. The disease is inherited in an autosomal recessive manner. The incidence rate varies with race, about 1/14,000 in the United States, 1/60,000 in Japan, and 1/16,500 in my country. If not treated in time, it will cause varying degrees of damage to the brain or nervous system, causing lifelong pain and even life threats to the patient. Most patients develop clinical symptoms in infancy and worsen with age. Since patients cannot convert phenylalanine in ordinary protein-containing foods, the intake of ordinary protein-containing foods such as meat, fish, eggs, milk, and beans must be strictly controlled. At present, the treatment of PKU is mostly based on dietary therapy, through the intake of specially prepared phenylalanine-free foods to ensure a normal life.

Hemophilia

They are like made of glass, and every bump and trauma is a huge danger to them.

Hemophilia is a hereditary bleeding disorder. The patients are generally male. The incidence rate is about 5 in 100,000, and there are about 70,000 to 100,000 people in my country. Patients suffer from severe lack of coagulation factors and bleeding in joints, muscles and internal organs. Patients often become disabled due to repeated bleeding in joints, or die due to bleeding in internal organs or brain. The disease is currently incurable and patients need lifelong use of clotting factors to maintain life, but preventive treatment can allow children with hemophilia to grow up healthily like normal children. Currently, due to the shortage and high price of blood products in our country, many children cannot receive timely and effective treatment and become disabled.

Lymphangioleiomyomatosis

Breathing freely is their biggest dream.

Lymphangioleiomyomatosis (LAM) is a rare disease. Almost all cases occur in women, mainly women of childbearing age, with an average age of 30-40 years old. Pneumothorax and chylothorax are often the first symptoms of LAM and can occur repeatedly. As the disease progresses, dyspnea will appear and worsen, and eventually more severe respiratory failure may occur. Currently, the number of reported cases in our country does not exceed 200. Most LAM patients are at an age when they have to shoulder family and social responsibilities, but they are trapped by the disease and have lost their normal work and life.

Idiopathic pulmonary hypertension

Walking a hundred meters or climbing a floor is a luxury for them.

Idiopathic Pulmonary Arterial Hypertension (IPAH) refers to the condition where no other systemic diseases or related clues causing pulmonary hypertension are found through detailed physical examination and comprehensive laboratory examination, and the disease occurs through the right heart. Catheter examination revealed that the pulmonary capillary embedded pressure was >20mmHg. According to American research data, the annual incidence rate is about 1 to 2/1,000,000, and the incidence rate in women is higher than that in men, with a ratio of about 2 to 3:1. Idiopathic pulmonary hypertension is an extremely malignant disease with a short natural course. Patients often develop the condition quickly. Without correct treatment, they will soon die from right heart failure that is difficult to correct. The average survival time is 2 to 3 years. The treatment is difficult, the prognosis is poor, and the severity far exceeds that of cancer. It is called "cancer in heart disease" by doctors. Although pulmonary hypertension is currently incurable, patients' quality of life can be effectively improved through regular treatment and targeted drug treatment. Advanced patients can extend their survival through double lung transplantation.

Bowtie? Tuberous sclerosis

Butterfly-shaped nodules on the face, epilepsy, and possible mental retardation make it difficult for them to face the crowd confidently.

Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease involving multiple systems. Both children and adults can be affected. The incidence rate is about 1 / 10,000. Domestic patients More than 100,000 people.

The main manifestations are epilepsy, skin lesions (such as reddish butterfly-shaped sebaceous adenomas on the face), and benign tumors of multiple organs. Some patients' intellectual development is affected. One-third of female patients develop lymphangioleiomyomatosis in the lungs. . TSC gene mutations occur in TSC1 or TSC2, resulting in uncontrolled cell growth. TSC cannot be detected during pregnancy, and most patients have no warning of the disease before it develops, making it impossible to predict how the disease will develop and what symptoms it will have. Tuberous sclerosis has brought huge psychological pressure to both the patients themselves and their families. There is a great need for more social understanding and attention, regular medical examinations, and professional psychological counseling to help them embark on this journey of life. Uncertain journey.

Penguin family? Hereditary ataxia

They walk with a shaky gait like penguins, and are affectionately called the penguin family

Hereditary* **Ataxia (hereditary ataxia) is a type of hereditary neurodegenerative disease, commonly known as "cerebellar atrophy". It is caused by a genetic mutation and there is no cure yet, making it a rare disease. Symptoms of hereditary dystaxia include: staggering walking, slurred speech, coughing when drinking water, double vision, and difficulty swallowing. The age of onset is mostly between 25-45 years old. Once the disease develops, it is like a car with brake failure, rushing to the end of life in 10-20 years. There are about 100,000 patients with dyslexia in our country, 60% of whom live in rural areas and 40% of whom live in cities. The characteristics of patients with economic disorders are that they are far away from society, face loneliness all day long, and are helpless and helpless towards the end of life.

Niemann-Pick disease

They have cute smiling faces like apples, but their bodies are also like apples, eroded by the disease step by step as time goes by.

Niemann-Pick Disease (NPD), also known as sphingomyelin lipidosis, is a congenital lipid metabolism disease with autosomal recessive inheritance. Its incidence is about 1 /25000, there are currently four types. The main symptoms are hepatosplenomegaly and neurological damage. Currently, there is no specific treatment for Niemann-Pick disease. Symptomatic treatment is mainly used, including a low-fat and low-cholesterol diet and enhanced nutrition. Among them, in symptomatic treatment, type C children with neurological symptoms need to take long-term anti-epileptic drugs, neurotrophic drugs, ultrasonic atomization for expectoration, wheelchairs and other drugs and medical supplies. Domestic medical institutions have little knowledge about the disease, there are no symptomatic drugs internationally, and families of children with the disease lack knowledge about disease care.

Progressive muscular dystrophy

Time is precious to them, and the atrophy of muscles day by day will eventually take away their ability to move

Progressive muscular dystrophy Muscular dystrophy (Duchenne/Becker Muscular Dystrophy DMD/BMD) is a severe neuromuscular genetic disease. The incidence of DMD is about 1/3500 male babies, and the incidence of BMD is about 1/5~1/10 of DMD. , the total number of patients is about 100,000. Due to genetic defects, muscular dystrophy patients are unable to synthesize normal dystrophin, and the muscle cell membrane loses its complete skeleton, causing muscle cell membrane damage and progressive destruction of muscle cells. The main clinical manifestations are progressive atrophy of skeletal muscles, gradual loss of muscle strength, and loss of mobility. Due to the progressive destruction of muscle cells, without therapeutic intervention, DMD patients usually lose the ability to walk before the age of 12, and eventually die from cardiopulmonary failure between the ages of 20 and 30. Because part of the incomplete dystrophin protein can be retained in the body, BMD patients usually develop symptoms later (5-15 years old), have mild clinical manifestations, develop relatively slowly, and usually live over 50 years old. Currently, there is no specific drug or radical cure for muscular dystrophy, but drug control and rehabilitation exercises can be used to prolong the survival period of patients and improve their quality of life.

Gaucher disease

They are lucky because they are one of the few rare diseases that can be treated with medication; they are also unfortunate, having to take medication for life, with high medication costs, and no medical insurance coverage. Their lives are cast into a shadow

Gaucher disease is an autosomal recessive disease caused by genes or gene mutations. The incidence rate is about one in 100,000. It is caused by lysis. The defect of acidic ?-glucosidase in the enzyme, also known as glucocerebrosidase, causes glucocerebroside to be accumulated in the mononuclear macrophage system of various organs to form Gaucher cells. It often manifests as lipid deposition in multiple systems, involving the bone marrow, liver, spleen, bones, and nervous system. Gaucher disease can cause pain, fatigue, jaundice, bone damage, anemia and even death. Currently, enzyme replacement therapy can alleviate the symptoms of Gaucher disease and improve patients' quality of life. ;