Rare diseases refer to diseases with low prevalence rate and rare diseases. In the United States, the rare diseases announced by the Rare Diseases Organization are up to 1,000 kinds of rare diseases, and in China, the more well-known rare diseases include Fabry disease, Gaucher's disease, Mucopolysaccharidosis, phenylketonuria, thalassemia, osteogenesis imperfecta (commonly known as glass dolls), hypergammaglobulinemia, organoacidemia, and Wilson's disease, etc. The definition of rare diseases varies from time to time and region to region, and the criteria for defining rare diseases vary.
The criteria for defining rare diseases change from time to time and from region to region. AIDS was once designated as a rare disease. Another example is thalassemia, which was also once designated as a rare disease in the Nordic region. Now both diseases are common.
Albinism, a genetic condition that manifests itself as a lack of pigmentation of the skin, eyes, and hair due to mutations in different genes that cause defects in melanin or melanosome biosynthesis. Patients with albinism have albino skin and hair, are prone to sunburn, most have nystagmus, photophobia and low vision, and there is no effective treatment.
Archipelagia, is the pituitary gland due to hyperplasia or tumor caused by growth hormone secretion caused by abnormal skin and bone hyperplasia disease. Minor morbidity caused by gigantism, adult morbidity manifested as diffuse hypertrophy and thickening of the skin, thickening of the facial skin texture, deepening of wrinkles, widening of the nasolabial folds, thickening of the tongue and lips. At the same time, pituitary tumor compression leads to organ lesions and the incidence of malignant tumors will increase accordingly, and life expectancy will be shortened. Incidence rate of 6~18 people/million.
Idiopathic pulmonary hypertension, is a rare cardiovascular disease, incidence rate of 1~2 people per million per year, the incidence of women is higher. 60% of the patients manifested dyspnea, shortness of breath, chest pain, etc., and the condition of the seriousness of the pericardial effusion, leading to the right heart failure, can only be bedridden. The average age of the patients is around 30 years old, and it is currently an incurable and severe chronic disease.
Phenylketonuria, lack of pyruvate hydroxylase, phenylalanine can only rely on transamination to generate phenylpyruvic acid, the patient's urine excretion of large amounts of phenylpyruvic acid. The accumulation of phenylpyruvic acid is toxic to the nerves and impairs mental development. The chance of a newborn having the disease is about 1 in 50,000, and about 6 to 7 newborns are born a year with the disease.
Mitochondrial disease, caused by defects in mitochondrial DNA or nuclear DNA. Genetic defects lead to changes in functional or structural proteins in the respiratory chain of the mitochondria, losing their original function and blocking energy synthesis, resulting in a range of symptoms, including epilepsy, migraine headaches, dementia, migraine blindness, limb aches and pains and fatigue after activity, vision loss, eyelid ptosis, neurological deafness, as well as short stature, diabetes, cardiomyopathy, and cataracts.
Early detection and early intervention is the best way to prevent and treat rare diseases. We should actively promote the publicity and popularization of scientific knowledge about rare diseases, organize relevant medical training, improve the detection and diagnosis of rare diseases in China, and reduce the delay in intervention and treatment caused by misdiagnosis and omission.
Rare diseases are often congenital, chronic, and consumptive diseases, which cause great pain to the patients and their families, who are in urgent need of social support in various aspects of life, medical care, and psychology.
Because of their disabilities, patients with rare diseases are often discriminated against in their lives and in schooling and employment. A more harmonious social environment should be promoted so that patients with rare diseases can receive the understanding and care of the whole society, and that support and assistance can be provided for their schooling and employment.
Since most pharmaceutical companies are reluctant to develop drugs for rare diseases due to their high cost, high risk and low market demand, society should support the government in formulating special incentives for the development of drugs for rare diseases, so as to promote more effective treatments for rare diseases.
Internationally, only about 1 percent of rare diseases have effective treatments, and the number of rare disease drugs registered in China is negligible. Due to the costly research and development process, effective treatments for rare diseases are expensive and most patients' families cannot afford them. All sectors of society should mobilize to help the government develop an effective payment mechanism so that patients with rare diseases can receive sustainable healthcare coverage. Although rare diseases are rare, they are not necessarily irredeemable diseases. In fact, there are many rare diseases that can be treated or controlled, and if they can be detected at an early stage, through medication, strict dietary control, or consumption of specially formulated food, they will be very effective.