Today is February 28, the World Rare Disease Day. On this special day, we will take everyone to pay attention to the rare patients, let us know more about and care about people with rare diseases, and give them more care and attention. warm!

Rare disease refers to diseases or diseases that account for between 0.065% and 0.1% of the total population. There are 5,000 to 6,000 rare diseases that have been identified, accounting for about 10% of human diseases, and about 80% of rare diseases. Genetic defects cause about 50% of rare diseases to develop at birth or in childhood. Rare disease is generally a chronic, severe disease that is often life-threatening. The condition is often progressing rapidly and the mortality rate is high. At present, only about 1% of rare diseases have effectively treated drugs. There are nearly 10 million kinds of patients with rare diseases in China. However, most medical personnel lack experience and in-depth research on rare diseases. They have no idea about the diseases. The rare patients themselves also know little about the diseases and there are great difficulties in the diagnosis and treatment of diseases. Therefore, the rare patient population needs to receive the attention and support of the whole society.

Therefore, after the definition of rare diseases proposed by the United Nations in 2008, more and more people are concerned about inherited metabolic diseases and patients, among which hemophilia, albinism, osteogenesis imperfecta (osteogenesis imperfecta), phenylketonuria Other special rare diseases have become more and more popular. A few days ago, the reporter visited the Second Affiliated Hospital of Harbin Medical University and learned about the conditions of rare patients in the province from multiple departments, including scleroderma (systemic sclerosis), skin relaxation syndrome, relapsing polychondritis, and painlessness. There are rare diseases such as hypohidrosis.

According to the survey, currently 75% of rare diseases are not treated regularly, and 44% of rare diseases are misdiagnosed. Some rare diseases are diagnosed with multiple doctors, which takes several years and brings tremendous physical pain to patients. Professor Li Yang, director of the Department of Rheumatology and Immunology at Harbin Medical University’s Second Hospital, said, “The rare patients in our daily lives have fewer unusual visions and more care. Even if most rare diseases cannot be completely cured at the current medical level, we must ensure that They live wonderful lives in limited life, get the same attention and the greatest degree of healing, because in the near future, medicine can surely cure the current 'rare disease' patients, therefore, confidence in life, daily care, It is essential for patients with rare diseases."

No wrinkles on the face, skin becomes tight, not beautiful, is rare, "scleroderma"

Fewer wrinkles on the face, tight skin, narrowed nose, this is the effect most women dream of, and some women are willing to use money for beauty, and use plastic surgery to achieve this effect. As everyone knows, this "unnatural" phenomenon is precisely a manifestation of a rare disease. Forty-year-old Ms. Zhang Li (a pseudonym) has discovered that her skin has become very strange in the past year. In addition to less wrinkles and tight skin, sometimes there are some facial swelling, Ms. Zhang is not a child, but In the winter, numbness and numbness of hands and feet occur from time to time. The diagnosis of several visits to doctors is not the same. Some say that Raynaud's disease or other neurological diseases have also been treated with different methods. The effect is not significant. A few months ago, Ms. Zhang came to the Department of Rheumatology and Immunology of Harbin Medical University Hospital. After detailed examination and comparison of medical symptoms, Director Li Yang of the Department of Rheumatology and Immunology was diagnosed with systemic sclerosis, commonly known as scleroderma. Professor Li Yang introduced that the disease is relatively rare in clinical practice, the incidence rate is very low, the patient will have symptoms such as skin stiffness from the beginning of illness, with the severity of the disease, the body skin stiffness, visceral dysfunction, severe pulmonary hypertension, kidney Elephant formation, life-threatening. At present, the effect of drug treatment of this disease is not obvious, but the disease can be interfered with in a certain degree at the beginning of the disease, which can relieve the patient's pain and slow the development of the disease. In addition, the "Raynaud phenomenon" in patients with scleroderma who modulate the cold, turning white and turning purple is a common manifestation. In this situation, the immune system should be examined in a timely manner by the Department of Rheumatology. Early treatment can control the progression of the skin to the hardened phase, can greatly improve the prognosis, and the late influence of the heart and lung is a poor prognosis.

Professor Li Yang pointed out that this disease is rare, so medical treatment methods that can be used for reference are rare and clinical experience is not abundant. Therefore, doctors need to constantly explore unknown areas and create greater chances of survival for patients with rare diseases. At the same time, Prof. Li Yang added that in the past year, more than 10 patients with scleroderma have been admitted, and some of them have achieved good results in the early intervention of the disease. This disease occurs in middle-aged women, so when the patient has facial and limb swelling, skin stiffness and other symptoms, we must not take it lightly, strive to find early intervention, to prevent the disease from developing into the end stage, but can not sit and watch the disease development and deterioration.

Ears collapsed like cauliflower "relapsing polychondritis" not only disfigured but also fatal

Most of the rare diseases are unheard of by everyone. Scleroderma is just one of them. There is also a disease that is contrary to the symptoms of scleroderma. Inflammation occurs at all cartilage sites in patients with the disease, so that the patient’s form also undergoes special changes. . 26-year-old Li Meng (a pseudonym) has just graduated from college and worked in Hebei. After working for one year, his appearance turned to be “meaty”: his nose collapsed and his ears became “cauliflower-like”, and his ears were repeatedly infected. The original high nose was also turned into a soft “pig nose”. At the age of getting married, he never had a boyfriend. This change of appearance made her often afraid to believe that the person in the mirror was himself. The extremely miserable dream returned to his hometown in Heilongjiang during the Chinese New Year. After repeated inspections at the Second Hospital of Harbin Medical University, the doctor thought that it may be a rare disease of the immune system. Finally, he was diagnosed as relapsing polychondritis at the Department of Rheumatology and Immunology.

The doctor said that this disease is a rare disease involving the whole body and multiple systems. It has progressive inflammatory destructive diseases with recurrent and remission. It involves cartilage and other systemic connective tissues including the ears, nose, eyes, joints, respiratory tract, and heart. Vascular system etc. Professor Li Yang, director of the Department of Rheumatology and Immunology, had seen patients with similar diseases. However, the patient had been diagnosed with an untimely illness and the disease had spread to the trachea. As a result of the loss of cartilage function throughout the body, he eventually died of respiratory failure. Therefore, the disease must be controlled at an early stage. If the treatment is not timely, the disease can be fatal in the short term.

Professor Li Yang added that the 26-year-old girl had been treated earlier because of medical treatment and her condition was under control. However, she still needs close attention and continuous monitoring and treatment in the future. Although it does not affect normal work and life, facial changes cannot be restored and, if possible, can be improved through plastic surgery.

9-year-old boy's body skin relaxation only "return old" not "return child"

The 9-year-old Lele is a young boy who has a "fame" in the department of internal medicine because his face is so special that everyone who meets him feels heartbroken. If you don't ask for age in detail, Lele will be mistaken for an elderly person who has passed through the hell. The skin on the face and neck is sagging, and the skin on the abdomen and extremities has many folds. The strange thing is that this change actually started from his seven years old. Lele’s mother said, “He was born until he was in elementary school and he was always the same as an ordinary person. He was not as ill as a normal child. But when he was in elementary school, the child began to have loose skin. And this trend of change is more and more obvious, and development is also getting faster and faster. It really scares us all.” Not only that, after school, because of changes in face, schoolchildren have also been mocked and ridiculed by their children of the same age. The mind became fragile and suffered physical psychological pain.

After being removed for medical treatment, Lele was finally diagnosed in the Department of Pediatrics of the Second Affiliated Hospital of Harbin Medical University. Ren Lihong’s director diagnosed the small patient as cutaneous relaxation. According to Professor Ren Lihong, skin relaxation syndrome is a group of hereditary or acquired diseases that are clinical manifestations of laxity, sagging, inelastic skin, and with or without involvement of internal organs. Relaxation of the skin is most pronounced on the face, and the patient will experience a typical "hound face" with loose eyelids, cheek necks, and sagging. It does not include skin sagging secondary to other lesions and may invade other connective tissues of the body such as blood vessels, heart, lungs, urinary tract, etc.

This disease can make a huge change in the face of the patient in a short period of time, as if passing through time and turning from a child to an old person. The doctors also said that the disease can make people "ageing", but it can't be easily "returned to children." For a child, it is undoubtedly a "disaster" that involves a lifetime. At present, doctors are conducting further checks on Lele to confirm whether there are "ageing" conditions in his internal organs and other body parts, and to use a reasonable plan to treat the situation. Director Ren Lihong of the Department of Pediatrics of Harbin Medical University said that although this rare disease may not be cured, but for a family, the child is the only hope. Therefore, patients with rare diseases need care in a social environment. They need Normal eyes, need to care for the words, need to be treated equally, patients can grow in a good environment, until the disease slowly improved.

A high fever of 40 degrees all year round, ten fingers fuzzy and painless "painless and sweatless" add to the troubles of life

Xiaoyue Yue is from Hulin City, Heilongjiang Province. It is now 3 years old. In the three years since its birth, the parents of the lunar and lunar families have been on the road to seek medical care throughout the country almost every year. Has become a celebrity in his hometown, almost every hospital doctors know this poor little patient.

The small patient at birth was once a feverish person. For this reason, he used an antipyretic drug and was misdiagnosed with ischemic encephalopathy. After a few months of high fever, his body temperature continued to be above 39 degrees, and the child did not seem to cause serious problems. . But the child bites his fingers and the nails have been “eaten,” but the child does not seem to feel pain and is excited when he sees bleeding. The doctor said that this may be a rare disease. So the parents of the month and month took their children to major cities in the country, Beijing, Shanghai, and Guangzhou. As long as there was a glimmer of hope, they would treat the children at all costs. After a doctor's visit, the month and month were diagnosed as congenital painless and non-sweat, and it is an extremely rare disease in the world.

Professor Sheng Yang of the Second Affiliated Hospital of Harbin Medical Institute introduced that congenital painless and non-hyperhidrosis is an autosomal recessive genetic disease caused by a gene mutation. The disease is typically characterized by loss of pain and loss of perspiration. Because of the loss of pain, the child has self-mutilation and physical injury, and due to poor development of sweat glands and disregulation of body temperature, repeated fevers are caused. Congenital painless and non-sweat disease is often associated with mental retardation, in addition to pain, no feeling of hot and cold, and no sweating.

At present, the patient's fingers have been ulcerated and inflamed, and the toes have developed into chronic osteomyelitis due to prolonged ulceration. Therefore, debridement and surgical treatment are required in order to control the disease. Therefore, Dr. Yang Yang, a pediatric surgeon, performed a left leg resection of the child and treated the child with dozens of injuries. Professor Guan Shengyang stated that in daily life, it is mainly to strengthen the guardianship of children and conduct safety education so as to improve children’s self-protection and control capabilities and prevent their unconscious self-injury and self-harm behavior.

The mother of the month and month introduced that because of long-term high fever, the moon and moon are always in a state of irritability. They keep scratching their bodies and are difficult to control. Ten fingers have already been bitten. In view of the unknown cause of the disease, there is currently no cure. Professor Sheng Yang of the Second Affiliated Hospital of Harbin Medical University said that the child does not have sweat glands. To maintain normal body temperature, only ice blocks, cold water, air-conditioning, and indoor cryogenic temperatures can be used to maintain normal body temperature. Physical methods, the effect of taking antipyretics is not obvious, and long-term use of antipyretics is not beneficial to children's health.

There are many patients with these rare diseases like the above. They may not know that they are sick, but just think that they are different from ordinary people. Let us use more care to warm them and give them a beautiful life!