"They have different physiological conditions from us, but they have the same life as us, please pay attention to them and improve our social system."
A photography exhibition with the theme of "Attention" is being held in Shanghai, and the camera is aimed at patients with rare diseases.
The photographer who took these photos was Xiong Xianjun, former director of the Department of Medical Service Management of the National Medical Security Bureau. Before his retirement, photography was his hobby, and after retirement, photography became his profession.
"Zong Xiang used photography to write a book about 'life'—the life of life,' but he didn't know how to write it." Xiong Xianjun told why he chose to photograph rare disease groups, and in 2021, he participated in the rare disease conference held by the China Rare Disease Alliance, allowing him to find an entry point about 'life'.
Tiny genetic differences make rare disease patients different. Is this difference in their lives caused by genetic differences, or is it that our entire social system is not yet able to accommodate rare disease patients, resulting in differences in their lives? Xiong Xianjun said: "I see that the answer is the latter." ”
Xiong Xianjun hopes that through his photography, he will present the public with an image of a specific rare disease patient, so as to arouse more people's attention to rare diseases and rare disease groups. "They have different physiological conditions from us, but they have the same life as us, please pay attention to them and improve our social system."
Deadly "dance", special wishes
Huntington's disease is a rare autosomal dominant disorder. It usually occurs in midlife with motor, cognitive, and psychiatric symptoms. Clinical features include involuntary dance-like movements, psychobehavioral disorders, and impaired cognitive function. At present, the drug used to treat the disease is deuterium butyrinazine tablets, which have been included in medical insurance.
Han Aihua is 58 years old and has been diagnosed for 22 years. Since 1997, he has been emotionally unstable, reticent, depressed, and gradually appears physically uncoordinated, often falls when walking, and unable to speak. He has been bedridden for 11 years, unconscious, and does not know anyone. For more than 20 years, husbands have been taking good care of their wives. They have a wish to donate their bodies to scientific research institutions after Aihua's death to contribute to the treatment of Huntington's disease. At present, the monthly income of the family is 4500 yuan, and there is no minimum guarantee. Living with my son. Patients have stopped taking the medicines used to treat Huntington's, but only took common medicines such as colds, and were reimbursed about 90%. The annual medical expenses of the family are about a few thousand yuan.
"Afraid" of protein in your baby
Methylmalonic acidemia, also known as methylmalonic aciduria, is the most common autosomal recessive inherited organic acid metabolism disease in mainland China. Caused by defects in the metabolism of methylmalonyl-CoA metastase or cobalamin thereof. It is estimated that the prevalence at birth in continental mainland china is about 1 in 28,000, and in some parts of the north it can be higher than 1 in 10,000. Usually, the earlier the age of onset, the more severe the manifestations of acute metabolic disorders and encephalopathy. Patients with neonatal onset of acute encephalopathy-like symptoms are most likely to develop within a few hours to 1 week of life, and the case fatality rate is high. Childhood onset is mostly within 1 year of age, and if left untreated, can lead to mental and motor development delays, backwardness, and regression, which can be accompanied by blood system, liver, kidney, skin, and peripheral nerve involvement. The first symptoms in adult patients may be peripheral neuropathy and psychosocial abnormalities. At present, the main treatment options are long-term consumption of special foods and adjuvant metabolic drugs.
Yu Junyi was 3 and a half years old, diagnosed more than 10 days after birth, and lived with his parents and grandmother. The family does not have a stable income, the patient's father is now only working odd jobs, and the mother is at home to take care of the children. Children currently consume special milk and special foods. Taking drugs such as levonidine, arginine, and glutamic acid is not reimbursed by Medicare because it is a hyper-indication medication. Patients are stunted and receive regular rehabilitation training. Patients spend about $5,000 a month.
Love gives me strength
Duchenne muscular dystrophy is a recessive genetic disorder of the X chromosome that occurs mainly in boys. According to statistics, the global incidence of newborn male babies is 1 in 3500. Patients have muscle weakness or atrophy and difficulty walking due to continuous degeneration of skeletal muscles before school age. By the age of 12, they will completely lose the ability to walk, and in their 20s, they will be life-threatening due to myocardial and lung failure.
Hu Xingshuo was 13 years old, 5 and a half years old, diagnosed, and lived with his parents. Patients take hormone medications or receive rehabilitation exercises. Mother at home to accompany patients, father work, a month income of 15,000 yuan, rent 1200 yuan a month, medical expenses of about 2000 yuan a month, rehabilitation once more than 200 yuan, after the annual review to adjust the rehabilitation program, and then go home to exercise on their own. Since the patient is Shandong Medical Insurance, the medical expenses cannot be reimbursed in Beijing.
"Scleroderma" can't hide the beautiful smiling face
Systemic sclerosis, also known as scleroderma, is an autoimmune connective tissue disease whose exact cause is unclear, but existing studies have suggested that it is related to vascular lesions, autoimmune abnormalities, and extensive fibrosis of the skin and internal organs. This disease is more common in women, which can easily lead to changes in the patient's appearance and limb disability, and can endanger the patient's life when it involves internal organs. There are currently no specific drugs.
Zheng Jian, 31 years old, developed symptoms in 1998, with tight skin and white spots on her body, and was later diagnosed. In high school, red spots appeared on the face and thinning of the lips. After going to college, his condition was slightly more serious. After graduating from university, due to the difficulty of finding a job, he founded the Scleroderma Patients Organization in 2016 and became a public welfare person who served patients full-time. Now mainly take hormones, traditional Chinese medicine, calcium tablets, etc., monthly medical expenses of 2000 yuan, their own burden. Scleroderma patients are mostly women, and affect the appearance, will lead to inferiority, depression and other mentalities. Zheng Jian told the patients: Every scleroderma patient's smile is beautiful, and our life can be very bright.
The Ranger with "Kennedy"
Myeloid muscular atrophy, also known as Kennedy's disease, is a delayed X-linked recessive hereditary neurodegenerative disease that involves the underlying motor neurons, sensory system, and endocrine system, gradually depriving patients of mobility, swallowing, and breathing. The prevalence is 1 to 2 in 100,000, only in men, and is more common in 30 to 50 years of age. There is currently no effective treatment.
Liu Zhida developed symptoms of lower limb weakness in 2007, was misdiagnosed, and was later diagnosed at Beijing Xuanwu Hospital. After 14 years of illness, he was unable to get up on his own after squatting, the stairs were very difficult, the ability to walk continuously decreased significantly, and he had to stop and rest every 100 meters walked; due to facial muscle atrophy, he could not naturally show a smile. At present, the monthly medical expenses are about 2,000 yuan, which cannot be reimbursed, and the income can be afforded. In the past ten years, he has taken advantage of his ability to travel around the country by car, and initiated the establishment of the "Kennedy Rare Disease Care Center" in 2014 to give patients the confidence to actively fight diseases through the self-media platform.
A life without sweat and sweat, severe pain in the limbs
Fabre disease is due to the mutation of the patient's GLA gene, resulting in a decrease in the activity of α-galactosidase A in the body or complete deficiency, resulting in the human metabolic substrate acyl sphingosine trihexose and its derivative deacetylsphingosine trihexose in the patient's blood vessels, nervous system and various organs storage, causing serious damage to the kidneys, heart, brain, nerves and other organs. The disease is progressively worsening and life-threatening if left untreated. The disease is inherited in an X-sex chain, with symptoms usually worse in men than in women. At present, the specific treatment drugs are agamethase for injection, agasase α, and the annual treatment cost is 1 million yuan.
Geng Jingbo, 34, was referred to several hospitals in 2014 and treated as chronic nephritis, and was diagnosed with renal puncture in 2015. Now I take painkillers when my limbs are sore, and I take some auxiliary drugs for my kidneys that lower my urine protein. Because the specific drug is too expensive, it is not used to solve the problem of the disease from the root cause. Husband and wife live with children and grandparents, the husband and wife earn 14,000 yuan per month, and the grandparents still have part of the income, and the monthly medical expenses are reimbursed for 500-600 yuan. He hopes to include special drugs in medical insurance, and the annual personal burden will not exceed 50,000 yuan.
Our hearts never "freeze"
Amyotrophic lateral sclerosis belongs to motor neuron disease, is the upper motor neuron and lower motor neuron injury, resulting in gradual weakness and atrophy of muscles including the bulb (refers to the muscles innervated by the bulbar bulb), limbs, trunk, chest and abdomen, patients are commonly known as "gradual frost", the domestic treatment drug is edaravone sodium chloride injection, has been included in medical insurance.
Jin Donghao, 44, was diagnosed in December 2019 and experienced multiple hospital visits before being diagnosed. Now the patient is not working at home, living with his parents, living on savings, and his parents take care of him. Patients have internal and external drugs, spending 3800 yuan per month, medical insurance reimbursement 2/3, self-payment about 1400 yuan. The daughter and her lover usually live in Beijing's Xicheng District because they go to school there.
The Moon Child can also be very sunny
Albinism is a hereditary condition that occurs as a result of the weakening or loss of melanin in the human body during synthesis and processing. Patients with ocular pigment deficiency, white or yellow-maroon hair, fair skin, and lifelong condition. The disease is most obvious to the eye damage, most patients have low vision, serious fear of light, etc., and can not be corrected; the skin is very easy to be sunburned by ultraviolet light in the sun, more prone to skin cancer. The estimated incidence is about 1 in 15,000, and there are about 100,000 people on the mainland. There are no specific therapeutic drugs.
Xie Hangcheng is 28 years old, diagnosed at birth, and so is his sister. He has known since childhood that to avoid exposure to the sun to protect the skin, his vision is weak, he often leans down to see things, which has little impact on other aspects of life and does not require targeted treatment. He came to Beijing in 2017 to work as a music teacher in a school for migrant children, while joining the 8772 band composed of rare disease patients as a guitarist and a part-time guitar teacher. The music gives Voyage the confidence and sunshine to face life, and plays its youthful passion on the stage.
When life is changed by "big money"
Acromegaly is an endocrine metabolic disease caused by excessive growth hormone secretion by the pituitary gland and abnormal hypertrophy of internal organs, accompanied by corresponding physiological abnormalities. Excessive growth hormone and growth factors mainly cause excessive proliferation of bones, soft tissues and internal organs, gigantism in adolescents, acromegaly in adults, and comorbidities such as heart failure and sleep apnea in severe cases.
Liu Gang, 38 years old, graduated from aviation colleges and was a former pilot, but was interrupted by illness and became a ground air traffic controller. After being diagnosed at Peking Union Medical College Hospital from 2007 to 2008, he underwent two surgeries and now has a higher hormone value than normal. Follow-up once a year, no special medication, drinking Traditional Chinese medicine to regulate blood pressure during the change of seasons, medical expenses can be reimbursed, and self-expenses are less. He has a happy family, a pleasant and hard work, and a stable income.
Get along with the tumor in peace
Neurofibromatosis is a benign peripheral nerve disorder that is an autosomal dominant disorder that often involves the nervous system, eyes, and skin, and is a common neurodermatotaneous syndrome. The main pathogenic mechanisms are the destruction of the surrounding tissues by tumor growth, such as gastrointestinal bleeding, etc.; the compression of peripheral nerves by tumor growth leads to numbness and muscle weakness; the tumor causes headache, vomiting and other symptoms due to increased intracranial pressure due to mass effect; or stimulates abnormal discharge of brain tissue to form epilepsy. Patients face frequent surgical removal of tumors at various sites. There are currently no specific therapeutic agents.
Zou Cunwei was 50 years old, and when he was a child, his symptoms were not obvious, until he grew a tumor on the lumbar spine and was in pain, he began to seek medical treatment, and was diagnosed in 1996 and underwent surgery. Over the next 20 years, he underwent three more surgeries. In a recent operation, he removed the tumor that caused the intestinal obstruction, which cost more than 10,000 yuan. A tumor on his arm made his arm sore and weak, in addition, it had little impact on his usual work and life. No treatment, no medication. Currently single, living alone, with an annual income of about 90,000 after tax, living in public rental housing.
"Butterfly Baby" looking forward to spreading its wings and flying high
Epidermolysis bullosa is a rare hereditary skin disease characterized by blisters or blood blisters after minor friction of the skin or mucous membranes, which lead to skin trauma and ulceration. Severe patients may have limb mutilation, limited mobility, adhesions to the fingers and toes, and esophageal stenosis due to repeated scarring. Because the skin is as fragile as the wings of a butterfly, and most of them develop from birth, patients are called "butterfly babies". Oral and topical anti-infective drugs can prevent secondary infection of wounds, and wound care uses hydrocolloidal or foam dressings to speed up healing. There are currently no specific therapeutic agents.
Gao Xinyi was 10 years old, diagnosed at birth, and further confirmed by genetic testing in 2014. Now there are symptoms of anemia, thinner body size, malnutrition. Ichigo has been unable to go to school due to illness, especially in the summer, there are more wounds, afraid of the sun, can not go out, can only take online classes at home; in the winter, as the temperature drops and dries, the physical condition is slightly alleviated, and you can participate in offline interest classes. At present, the mother is full-time at home to take care of a mushroom, mainly relying on the father to work, the annual income of more than 100,000 yuan, the elderly can help some. Medical expenditure is about 2,000 yuan per month, mainly for group purchase of foreign imported dressings, and medical insurance is not reimbursed.
Smile in a wheelchair
Spinal muscular atrophy Spinal muscular atrophy is a type of disease in which muscle weakness and amyotrophy are caused by degeneration of motor neurons in the anterior horn of the spinal cord. Clinical manifestations vary greatly, and SMA is divided into type 4 and type 1 is the most severe according to the age of onset and clinical course of the patient. At present, the special drugs Nocinasin sodium injection and risperolane oral solution are approved for marketing in China. The annual treatment cost is about 2 million yuan.
Zhou Jiantao, 9 years old, was diagnosed with SMA2 type 1 week after birth, and is currently in a wheelchair and recovering at home. My parents usually work in Beijing. Due to the high cost of treatment with specific drugs, patients do not have any treatment. Patients live with grandparents, who farm at home to do odd jobs and take care of patients.
"Porcelain dolls" are as strong as they are
Osteogenesis imperfecta is a single-gene inherited bone disease characterized by low bone mass, increased bone fragility, and repeated fractures, which may include extraskeletal manifestations such as blue sclera, dentin hypoplasia, hearing abnormalities, joint ligament laxity, and heart valve lesions. Most are autosomal dominant, a few are recessive, and rarely X chromosomes are inherited with a combination of inheritance, which is a disease associated with a decrease in the number of medium-sized collagen in the bones or structural abnormalities.
Wang Lin, 34 years old, fractured her bones without falling 18 days after birth and was diagnosed at 8 months. Since then, he has fractured more than ten times, and has not received special treatment or rehabilitation programs during growth. Because of the impact of the disease, he was unable to go to school like other children since he was a child, and he never left home for a long time. She used to be bedridden, and after exercise, she could travel in a wheelchair and stand on crutches. Calcium supplementation is usually taken with Calci D, and no other treatment is carried out. As the president of Dalian Disabled Youth Association, she has organized a number of public welfare activities. Her husband is also a patient with osteogenesis imperfecta, and the two are currently engaged in public welfare support for rare diseases in Beijing, running for the majority of patients.
The colorful life of "sticky baby"
Mucopolysaccharide storage disease is a complex group of progressive multisystem-affected lysosomal diseases, due to the lack of enzymes that degrade mucopolysaccharides, mucopolysaccharides that cannot be completely degraded are stored in cells, which can cause facial abnormalities, nervous system involvement, skeletal deformities, liver and spleen enlargement, heart disease, corneal opacification and other symptoms. There are 7 common types, and some of them currently have specific drug treatment, but the price is very high. At present, the specific treatment drugs are: the current special treatment drugs are: iloxinase α, Raroni enzyme, edulfulates β, with an average annual treatment cost of about 1 million yuan.
Gu Ruofan, 21 years old, was diagnosed with mucopolysaccharide storage disease type IV in 2004 and is currently taking drugs continuously. Since childhood, he has gone to many places to seek medical treatment due to illness, and also let Ruo Fan have experience far beyond that of children of the same age. In 2019, if fan successfully applied to study graphic design at a University in the United States, he could finally use the special drug he dreamed of, and the drug cost was about $450,000, and all the medical insurance in the United States could be reimbursed. In her study in a foreign country, she likes to paint and has won the admiration of her classmates with her talents, and has also given her the courage to continue to cultivate on the road of art, and has appeared on the stage of "China Dream Show" to interpret the dream life with sand painting. At present, due to the epidemic, he temporarily suspended his studies and returned to China to live with his mother. The family income is close to 200,000 yuan a year, and the treatment cost of sufficient medication in China is about 3 million yuan a year, if all can only rely on public welfare assistance and self-funding to ensure the current continuous medication.
But I hope that there will be no sleep in the day and no dreams in the night
Narcolepsy is a chronic sleep disorder whose cause is not yet clear, and is clinically characterized by irresistible short-term sleep onset, which occurs more often in children or adolescents in mainland China. Presents with excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations before falling asleep, and nocturnal sleep disturbances.
He was 37 years old, became ill in 2008, and was diagnosed with narcolepsy in 2014. Daily drowsiness and cataplexy are more severe, and the patient has depression due to the disease. Today, she is able to reconcile with the disease, accept her physical condition, and adapt to her current life. Occasionally anxious, but overall optimistic. He has worked as a journalist, insurance consultant, and is now in charge of the patient organization of narcolepsy full-time, providing medical information and psychological support for the majority of patients and calling on all sectors of society to pay attention to the narcolepsy group and eliminate discrimination against this group. Now go to Boao Lecheng to try drugs, 20,000 yuan a month, back and forth cost about 10,000 yuan, but the effect did not meet expectations, took more than 2 months, has not been reimbursed. At this stage, there is no drug for this disease in China, and patients usually prescribe drugs for the diagnosis of depression and ADHD, and at the same time use other drugs to control cataplexy.
Beauty begins with breaking through yourself
Neuroblastoma is the most common extracranial tumor in children, with nearly half of neuroblastomas occurring in infants and young children under 2 years of age. It is a neuroendocrine tumor that can originate in any part of the neurovertebral region of the sympathetic nervous system. It occurs most commonly in the adrenal glands, but can also occur in the nerve tissues of the neck, chest, abdomen, and pelvic cavity. Neuroblastoma is one of a few known human tumors that spontaneously degenerate from undifferentiated malignancies to completely benign tumors. There are currently no specific drugs.
Pan Meimei was 27 years old and was diagnosed with a sudden high fever at the age of one. The tumor compresses the spinal canal motor nerves, and after many chemotherapy treatments, he survived the life-threatening situation, but he was unable to walk due to spinal cord injury, and he was accompanied by a wheelchair from childhood to adulthood. At the age of 10, he dropped out of school at home due to physical reasons, and in 2016, he participated in the "Independent Life" public welfare project in Beijing, and gradually became able to live independently in Beijing, freely participating in public welfare activities, finding a job that can guarantee his income, and also tried skydiving, diving, rock climbing, etc. Currently, together with the Pain Challenge Foundation, she is involved in the public welfare empowerment of the neuroblastoma patient community. She likes to call herself "a good girl in a wheelchair" and looks forward to using her own stories to give courage and confidence to more disabled partners.
Say goodbye to the wish of "big belly"
Gaucher disease is a rare autosomal recessive metabolic disease caused by a defect in glucose cerebrosidase function in lysosomes. Due to the lack or decrease of glucose cerebrosidase activity of the body, the substrate glucose cerebrosidine is stored in the macrophages of the liver, spleen, kidney, bone, lung, and even brain, forming a typical storage cell, that is, "Gaucher cell", resulting in lesions in the affected tissues and organs, and the clinical manifestation is multi-organ involvement and progressive exacerbation. Specific drugs; imidase, vera glycosidase a, according to the weight of different years of cost in 700,000 yuan to 2 million yuan.
Gao Zibo, 13 years old, was diagnosed with Type III of Gaucher disease in 2014. Due to the continuous swelling of the spleen, the stomach bulged day by day, and the medicine could not be used, in 2015, in order to save his life, he had to undergo splenectomy surgery. In 2016, due to the removal of the spleen, the patient had necrosis of the femoral head, walked a little lame, and the liver gradually enlarged. In 2021, I had the honor to participate in the clinical trial of Gaucher disease drugs, and the clinic can be used for free for 1 year, and once every half a month from Hebei to Beijing, the round-trip cost is about a few hundred yuan, and the clinical trial can be reimbursed 200 yuan. In addition, the patient also takes some other adjunctive medications. Zi Bo's younger brother was also diagnosed with Gaucher's disease two years ago. Mom takes care of the children at home, dad works in a printing factory, and his monthly income is only about 4,000 yuan. The family is now worried that if Zibo loses the drug after 1 year, the deterioration of the body will be more serious, and hopes that the stomachs of the two children will not bulge day by day...
The vast sky of the pocket man
Pituitary stalk blocking syndrome is a symptom of hypopituitar function due to the absence or thinning of the pituitary stalk and the ectopic posterior pituitary lobe, where hormones secreted by the hypothalamus cannot be delivered through the pituitary stalk to the posterior pituitary lobe and then to the anterior pituitary lobe. The estimated incidence is 1 in 200,000. The resulting hormone secretion abnormalities include from isolated growth hormone deficiency to a variety of other anterior pituitary hormone deficiencies, and some patients also have posterior pituitary hormone deficiencies, showing diabetes insipidus. Childhood manifests as short stature, hypotension, etc.; in adolescence, secondary sexual characteristics do not develop. Currently, alternative therapies that mimic the secretion of physiological endocrine hormones can reconstruct pituitary function, allowing patients to grow, develop, and even "naturally" procreate. The main treatment is recombinant human growth hormone, which is limited to primary growth hormone deficiency in children in the Medicare list.
Yuan Nana is 38 years old and has a height of 142 centimeters. Long-term use of growth hormone, thyroid hormone, adrenal hormone, sex hormone replacement therapy, the annual treatment cost is about 60,000-80,000, medical insurance reimbursement of 2,000 yuan, the remaining part is completely self-funded. She works for an NGO in Beijing, with an unstable income and relies mainly on her family to support medical expenses. She is the initiator of the Pocket Home in Dongcheng District, Beijing, and in the past 10 years, she has worked hard to change the prejudice of society against groups with growth and development disorders and encourage patients to grow freely and bravely through leadership training for women with disabilities, promoting policy discussions, and a series of public advocacy.
Sunny and optimistic "Peter Pan"
Facial scapular muscular dystrophy is an inherited neuromuscular disorder characterized by progressively worsening muscle weakness and atrophy, autosomal dominant, usually in adolescence or adulthood. The prevalence is 1 in 20,000. The most commonly affected muscle tissue is the face, shoulder blades, and upper arms, and affects the muscle groups of the trunk and lower extremities as the disease worsens. In severe cases, problems such as swallowing, base of the eyes, high-frequency hearing, cognition, speech impairment, and respiratory function may occur. About 20% of patients end up using a wheelchair. There is currently no treatment available.
Xiao Kexin, 22 years old, was diagnosed in 2017 because he could not raise his arm. In junior high school, the waist and abdomen are weak and cannot complete sit-ups, the left arm cannot be lifted normally in high school, and the back shows a "wing" shape; the fingers of the right hand are atrophied to varying degrees; for a long time, it is impossible to blow the whistle or balloon normally, and it is impossible to suck up liquid through the straw normally; During sleep, it is not possible to close the eyes completely; symptoms of "discomfort" or "burning pain" in the muscles will occur. Due to her persistent exercise, she allowed her symptoms to be maintained above, successfully completed her studies, and started a new life after work in Beijing.
With the threat of blindness and paralysis
Multiple sclerosis is an autoimmune disease characterized by inflammatory demyelinating lesions of the central nervous system. The most commonly affected sites of this disease are the peripheral ventricular white matter, optic nerve, spinal cord, brainstem and cerebellum, and the main clinical features are the relapse of the central nervous system leukoplasm scattered in the distributed multi-lesion and course, the spatial multipleness of symptoms and signs, and the temporal frequency of the course. If not diagnosed and treated in time, it can cause disability (blindness, paralysis, etc.). Disease recurrence and disease progression can be controlled through drug therapy, and patients with different conditions are suitable for different treatment options. At present, the main treatment plan is disease correction therapy (DMT), and most drugs have been included in the national medical insurance, but there are still difficulties in landing.
Qin Yanpeng, 33 years old, first became ill in March 2018, partially lost the visual field of his right eye, went to the ophthalmology department, and was diagnosed with multiple sclerosis in April 2018. There was no medication at the beginning of the diagnosis, and in October 2018, he began to take a specific treatment drug, and was not enrolled in medical insurance at that time. At present, it is still taking drugs, and it costs about 2,000 yuan per month after medical insurance reimbursement, and 2-3 times a week for traditional Chinese medicine acupuncture, and about 400 yuan per month after medical insurance reimbursement. The patient's income is about 4,000 yuan a month.
The smile of a child with "self-disfiguring" disorder
Lesch-Nyhan syndrome, or self-disfiguring syndrome, is an X-linked recessive congenital purine metabolic defect disease, resulting from the deletion of subxanthine-guanine phosphate ribose transferase, so that hypoxanthine and guanine can not be converted to IMP and GMP, but degraded to uric acid, hyperuricemia. Seen in men, patients present with elevated uric acid and neurological abnormalities such as cerebral hypoplasia, mental retardation, aggression, and disruptive behavior. There are compulsive self-destructive behaviors such as biting one's lip, hands, and toes. There is currently no specific treatment.
Guo Guo was born in 2014, especially loves to laugh, and the hundred days are smiling and squinting, but there are already high muscle tension performances such as head up and body arch. At 5 months, he found that he could not turn over and was misdiagnosed as cerebral palsy. Diagnosis was confirmed at 14 months. He will self-harm uncontrollably, and at the age of 1, he began to bite his lower lip repeatedly, biting his lower lip off, and later biting his hand, in order to save his fingers, etc., his family could only pull out his teeth. There is now significant dystonia and intellectual disability. He loves to watch cartoons and shows cute smiles from time to time.
Note: The use of photos has been authorized by me and the producer. The disease and patient introduction copy of this article is provided by the Pain Challenge Foundation.
Source: Medical community
Photo: Xiong Xianjun
Editor-in-charge: Zheng Huaju
Proofreader: Zang Hengjia
Plate making: Xue Jiao