Wang Huaijiao, a 19-year-old girl from Xintai, Shandong Province, is a villager in houshangzhuang village, Qingyun street. She suffers from a rare family genetic polyposis of the digestive system and has to give up treatment because she has no money. Recently, Wang Huaijiao's condition worsened and she was admitted to Xintai Hospital of traditional Chinese medicine again. On April 8, the reporter came to the first department ward outside the 10th floor of Xintai Hospital of traditional Chinese medicine. Wang Huaijiao was pale, lying on the bed, moaning and shouting, "ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah, ah," he said. The picture shows Wang Huaijiao lying on the bed for more than 20 days. Her left leg is swollen. It's a poor girl. She has such a strange disease at such a young age and can't be cured. Many people don't know about rare diseases. Let's see what rare diseases are in the world?
Phenylketonuria
In the absence of pyruvate hydroxylase, phenylalanine can only be converted to Phenylpyruvate by transamination, and a large amount of Phenylpyruvate is excreted in the urine of patients. The accumulation of Phenylpyruvate is toxic to the nerves and causes mental retardation. The incidence of neonatal disease is about one in 50000. About 6-7 newborns with this disease are born in one year.
Mitochondrial disease
It is caused by defects in mitochondrial DNA or nuclear DNA. Gene defects lead to changes of functional protein or structural protein in mitochondrial respiratory chain, loss of original function and blocked energy synthesis, resulting in a series of symptoms, such as epilepsy, migraine, dementia, hemianopsia, limb pain and weakness after activity, decreased vision, ptosis, nervous deafness, short stature, diabetes, cardiomyopathy Cataracts, etc.
Albinism
Because of the mutation of different genes, melanin or melanosome biosynthesis is defective, which is a genetic disease of skin, eyes, hair and other pigment deficiency. The skin and hair of patients with albinism show albinism, which is easy to sunburn, most of them have nystagmus, photophobia, low vision and other phenomena. At present, there is no effective treatment.
Acromegaly
It is a hyperplastic disease of skin and bone caused by excessive secretion of growth hormone in pituitary gland due to hyperplasia or tumor. The onset of juvenile causes gigantism, which is manifested by diffuse hypertrophic thickening of skin, thickening of facial skin texture, deepening of wrinkles, widening of nasolabial groove, thickening of tongue and lips. At the same time, the compression of pituitary tumor will lead to organ disease and the incidence of malignant tumor will increase correspondingly, and the life span will be shortened. The incidence rate was 6~18 persons / million.
Idiopathic pulmonary hypertension
It is a rare cardiovascular disease with an incidence rate of 1~2 per million per year and a high incidence rate of women. 60% of the patients showed dyspnea, asthma, chest pain and so on. Pericardial effusion resulted in right heart failure and could only be bedridden. The average age of the patients is about 30 years old. At present, they are incurable severe chronic diseases.
In fact, there are more than a few rare diseases in the world, but no matter what kind of rare diseases they encounter, they need to be treated in time, so as to reduce the sufferings of patients, prolong the life of patients, and even if they can't be cured, make patients live more easily in the last days.