Surging news reporter Xue Shasha
They changed their lives because of their rare diseases. They worked hard and wanted to live like ordinary people. Each of them shone with extraordinary light on the road of struggle with illness.
There are more than 7,000 rare diseases worldwide, and there are about 20 million patients in my country.For a long time, some rare disease groups lack social attention, the treatment of drugs is expensive or lacking effective treatment, and their survival is facing difficulties.
Caring for patients with rare diseases requires the continuous attention and efforts of all parties.The surging news will continue to launch a series of "rare life" series, continue to pay attention to rare domestic disease groups, and hope to add a attention and hope to them.
Xinxin is over 7 years old, 95 cm tall, and weighs only 30 pounds.
Xinxin was treated at Chongqing Children’s Hospital.The pictures of this article are provided by the respondents
After 10 months of birth, Xinxin’s body began to suffer from repeated infection of multiple parts: first a toe ulcer infection and was removed; in less than half a year, her right arm accepted the pustule; after that, she, sheWhen I played, I fell into the scalp, and the "a little red" began to develop into red and swollen ulcers, so that the infection invaded the skull. At the same time, she had a high fever for a long time.
At the age of 5, Xinxin had a sudden high fever after injections, convulsions and coma, and entered the intensive care unit (ICU).After more than 10 minutes of rescue, the doctor got a notice of critical illness, and Xinxin "suffocated, and the bladder was also an emergency moment when the bladder was going to explode at any time."
At that time, her mother Zhang Jing had been pregnant for 8 months, and she stayed outside the ward for seven days and seven nights.When Xinxin came over, when the ICU was launched, her daughter shouted "Mom" in a weak voice. At that moment, Zhang Jing felt that she and her daughter were reborn.
What is Xinxin’s illness and troubles her family.Over the years, Zhang Jing, who lives in Xuanwei, Yunnan, carried her daughter for medical treatment. When Xinxin was 6 years old, she finally diagnosed at Chongqing Children’s Hospital (referred to as Chongqing Children’s Hospital) at Chongqing Medical University.Skin disease-PAPA syndrome.
Wu Junfeng, deputy chief physician of the Department of Rheumatology and Immunology of Chongqing Children’s Hospital, introduced in an interview with Peng Mei News on August 19 that the PAPA syndrome of Xinxin’s PAPA syndrome is caused by genetic mutations, characterized by the early hair, destructiveness, recurrence of joints, skin and musclesInflammation.The disease is extremely rare, and there are currently less than 100 cases of global reports, and only three cases have been reported in domestic literature.There have been no clear and effective treatment so far.
After Xinxin was born, her family did not find that her body was obviously abnormal.At 10 months, her left foot’s toe suddenly became red, then swollen, and the scope of redness became larger and larger, and finally began to ulcerate, pus, and infected.
Zhang Jing once thought that the shoes she bought for Xinxin was inappropriate, and she worn her toes.She did not expect that this was a symptom of a child with a rare disease.
Xin Xin’s left foot’s toe was not good. Zhang Jing took the child to the local hospital. The doctor gave Xin Xin anesthetic, performed cutting surgery, and removed the broken thumb.
The peaceful days maintained for less than half a year.When Xinxin was 1 and a half years old, a big egg -sized pimple appeared on his right arm after the injection, and then became pustules, and gradually ulcerated pus.
Zhang Jing said that she found relevant staff and they judged that this was Xinxin’s own physical reasons.She held her children in Xuanwei and Kunming hospitals to treat her arms on her arms, conducted a number of inspections, and prescribed a lot of medicines.
What was confused about Zhang Jing was that doctors did not give a conclusion about the reasons for the formation of this pimple.
What’s more, it didn’t take long for Xin Xin to break his scalp when playing with other children in front of his door.Zhang Jing cleaned the wound with iodine, the wound gradually became better and began to scab.But just when the family felt that there was no major hindrance, Xinxin’s head’s wound began to become red and swollen, and repeated infections. Zhang Jing once again took Xinxin to the hospital for medical treatment.
The doctor pulled out the pus, and the situation improved slightly, but he still repeatedly flowed after returning home.Subsequently, the doctor removed the pus, but it was still the same as before. It was better at first, and then repeatedly infected.
Zhang Jing said that at the time of treatment, the doctor said that Xinxin’s skull had been infected by the virus, the skin was black, and her hair had fallen off.In addition to the head, Xinxin’s left ribs chief had a thumb -sized pustule, and her left wrist was also swollen at the arm of the left ankle.Accompanied by, Xinxin has a high fever for a long time.
Zhang Jing said that the doctor told her that might be possible to remove the child’s infected head cover.She was scared to cry as soon as she heard her head covering her bones.She was determined to give her daughter the best treatment.
Zhang Jing carried Xinxin.
Seek medical treatment
After that, Zhang Jing and her husband borrowed money from relatives and took her to Beijing for medical treatment.
After the doctor was treated, Xin Xin’s multiple wounds improved, and they could barely walk, but they were still "the kind of lame."
Although the body improves, it is not smooth to find the path of the cause.
Bone marrow puncture, heart puncture, lumbar spine puncture, nuclear magnetic resonance … all inspections have been done, and the cause can still not be found.Finally, the doctor in the infection department asked Xinxin to go to the orthopedic department for bone biopsy.
Zhang Jing recalled that the doctor of the orthopedic department talked three times to talk to her husband. The doctor’s general meaning was that Xinxin’s illness would not be able to cure, and there was no need to do this examination.
Zhang Jing said that one time I walked out of the hospital, and in the crowds, she was paralyzed and cried by the road.A security guard didn’t know why she cried, and came over to comfort her and said, "No matter what difficulties encounter, there is a way."She wanted to say "my daughter’s illness is not cured", but she doesn’t even have the strength to speak.
Zhang Jing still didn’t want to give up. She insisted on doing a bone biopsy for Xinxin, but she had not found the cause.
After the condition was stable, the doctor asked Xin Xin to be discharged first, and returned to the review half a month later.Considering that the return fee is too expensive, after discharge, they did not go home and continued to live in a tent taken outside the hospital.
However, before the review, only 10 days after the discharge, Xin Xin’s condition recurred again.Zhang Jing said that Xinxin continued to have a high fever and could not eat it. She couldn’t eat it. Intra -fever medicines, dripped, and ice were applied. Various antipynthesis methods were used. The body temperature rose to 41 ° C for a while, and burned to the coma.
The antibiotic drug used for the first time was no longer effective.At the most serious, Xinxin was pushed to the ICU and returned to the general ward for seven days and seven nights.
In the general ward, Zhang Jing bought a mattress and slept under the daughter bed, and her husband lived in a tent outside the hospital.The husband bought meals to send them in. Zhang Jing asked Xinxin to eat first, and eating the other daughter left.
Zhang Jing also took her daughter to another hospital in Beijing.She said that an experienced doctor who was 60 or 70 said that she had only had a case of bone destruction of the single at the time before, and she had not seen it before.
Xin Xin’s condition was not stable, and the hope of healing could not be seen. In addition, the money they borrowed had been spent, and the couple returned to their hometown with Xinxin.
Xinxin is in treatment.
After returning home for more than half a month, Xinxin couldn’t eat again.Zhang Jing said that Xinxin was painful, and it was painful after taking painkillers. She was so painful that she could not cry, and she could only moan weakly. At that time, Xin Xin, who was more than 3 years old, weighed only over 10 pounds.
Zhang Jing said that since then, Xinxin has drank a traditional Chinese medicine deployed Chinese medicine in Yunnan, and the situation has improved.In the three years since then, she relied on Chinese medicine to maintain her life.
In the past three years, Xinxin, like other children, entered kindergarten to study and enjoyed the precious kindergarten time of peers.
The accident happened again.In March 2020, after a injection, Xinxin suddenly had a high fever to 38 ° C, and once burned until it was convulsive.
After the emergency transfer to the Kunming Children’s Hospital, she was once again pushed to the ICU.Zhang Jing said that in the ICU for more than 10 minutes, Xinxin had symptoms of suffocation and could not urinate. "The bladder reaches the degree of explosion at any time."
In the ward, the doctor rescued Xin Xin while helping her urinate.Outside the ward, Zhang Jing, who had been pregnant for more than 8 months, was pregnant with a pregnant belly and took the daughter’s illness notice from the doctor.
Xinxin spent seven days and seven nights in the ICU.Zhang Jing came outside the ward every day and waited for the doctor to come out.She said that during the period, the doctor told her many times that the child was likely to be unable to survive and let them prepare for thought.
"Fortunately, Xinxin has survived it." Zhang Jing recalled the scene of Xin Xin’s launch of the ICU, choked, and said, the ventilator broke the corner of Xin Xin’s mouth, watching the weak and weak daughter shouted with a weak voice "Mom ", she was excited and heartache.
Later, the doctor told Zhang Jing that in the past few days in the ICU, Xinxin first moved his fingers, then he would move his toes, and later raised his ass.
Xinxin’s 5 -year -old birthday spent in the ward. In Zhang Jing’s view, her daughter survived this, which meant to be born again. She was anxious to wait for seven days and seven nights to see her daughter’s peace.Essence
After returning home, the family bought a small cake for Xinxin. Zhang Jing specially bought Xinxin a set of red clothes with a small pig Page pattern. "Although our family is very poor, she still wants to give her overThis birthday. "
Xinxin’s knees were severely swollen.
Zhang Jing married her husband in 2014 and had the first baby Xinxin in the second year.
Zhang Jing said that more than a month before Xinxin was born, her chest and back suddenly had shingles. The doctor in the town introduced a soil method.superior.A month later, the herpes were fine. She took a shower and Xinxin was born the next day.
After their daughter became ill, they moved to multiple hospitals and could not determine the cause.This made Zhang Jing doubt whether it was because of the hearing of the faith, and took a bath the day before the child’s birth, causing the child to be sick.To this end, she also specifically told the doctor’s experience that she hoped to find a role in finding the doctor.
The doctor told Zhang Jing that the child’s illness was not the reason, but this was still a knot that could not be unlocked in her heart.
What is Xinxin’s cause?Zhang Jing wanted to figure out.
She said that in April 2020, Xinxin was kicked by the child in the kindergarten. After a week, her right knee began to swell, ulceration, pus, and repeated infection.After repeated thinking, in 2021, she borrowed tens of thousands of dollars from her brother, took all the previous medical treatment and inspection reports of Xinxin, and one person held her luggage and boarded the train to Chongqing with her child.
At Chongqing Children’s Hospital, Xinxin did various inspections.After consulting by hospital experts, more than 40 days after admission, the experts confirmed that Xinxin was "purulent aseptic arthritis-gangrene pyloridal disease-acne (PAPA) syndrome".
Zhang Jing said that the doctor told her that the disease needed life treatment for life, and repeatedly confirmed whether she would abandon the treatment.
With her daughter’s path to seeking medical treatment in the past few years, her daughter is finally able to confirm the diagnosis. In Zhang Jing’s view, she was afraid to think about a few years ago. She said that she would not give up her daughter anyway.
Rare disease in rare diseases
At the Chongqing Children’s Hospital, Wu Junfeng, deputy chief physician of the Department of Rheumatology and Immunology, took the clinic.After listening to Zhang Jing’s experience of seeking medical treatment over the years, Wu Junfeng was very moved.In Xinxin’s diagnosis and treatment and expenses, rheumatism and hospitals also helped them a lot.
On August 19 this year, Wu Junfeng introduced to the surging news reporter that "purulent aseptic arthritis-gangrene pusic disease-PAPA syndrome" is due to cell skeleton-related connecting protein 1 (PSTPIP1) gene mutation causedThe gene of this mutation causes rare constant chromosomal explicit inheritance of its own inflammatory disease.
Wu Junfeng said that patients with different PSTPIP1 gene mutations have different clinical manifestations. According to their clinical manifestations and mutation sites, they are roughly divided into four diseases. The PAPA syndrome suffering from Xinxin is one of them.PAPA syndrome is characterized by early hair, destructive, and recurrent inflammation of joints, skin and muscles.It is usually manifested as a sterile and corrosive arthritis that occur repeatedly during childhood, which occurs after spontaneous or mild wounds.
PAPA syndrome is a rare disease in rare diseases.Wu Junfeng introduced that the inheritance of the disease can be incomplete, that is, carrying the same genes, some people have diseases, and the other people may have no clinical manifestations.At present, there are only a hundred cases of cases reporting worldwide, and there are only three reports of domestic literature. So far, there are no clear and effective treatment methods.
In the cases of consultation in these years, 4 patients with PSPIP1 patients have diagnosed and tested in the immune defect team of Chongqing Children’s Hospital, including 2 patients with PAPA syndrome, including Xinxin, and other types of diseases caused by mutations caused by PSTPIP1 gene mutations.
Xinxin came to Chongqing Children’s Hospital for treatment in the first half of the year, and the condition was well controlled, but during the midway hormone reduction process, the condition had repeatedly appeared.Monazumi combined treatment, regularly came to the hospital for examination to evaluate physical condition.At present, the condition is still under control, but in the future, Xinxin’s body may still occur due to the characteristics of the disease itself.
Zhang Jing is also worried that although her daughter’s condition can be controlled by drugs now, what should I do if new situations occur?What should I do if these medicines have no effect in my daughter’s body in the future?
Zhang Jing couldn’t remember. How many times she collapsed in the past years.
She just remembers that when Xinxin’s condition was the most serious, she couldn’t eat almost every day. She was maintained by only one apple or an orange a day, and sometimes she couldn’t even drink water.Every time the doctor said that the child was not saved, she would cry.She was only 70 catties of weight loss in four months.
Zhang Jing said that after she married Xinxin’s father, her husband went out to work with zero work and could earn more than 3,000 yuan a month.When Huai Xinxin, she had no money at home. She only had a B -ultrasound in the town, and she had never done other pregnancy examinations.
Zhang Jing said that she was a strong person, and she was unwilling to reach out to borrow money from others.
In her, the word "strong" is more reflected in treating Xinxin.
Whether in Yunnan, Beijing or in Chongqing, she carried her daughter, ran around in various departments of various hospitals, slept under the female bed, and guarded at the door of the ICU.In order to save money, she bought a takeaway that Xinxin loved to eat, and when Xinxin finished eating, she would eat the rest.
Zhang Jing rarely cried in front of Xinxin, and she did not tell Xinxin’s real condition. She has always encouraged her daughter to eat and eat medicine on time, and take inspection and evaluation on a regular basis.
When in Beijing, because of overly thinking about Xinxin’s body, Zhang Jing couldn’t sleep all night all night all night, tears wet the pillow, and had a headache.One night, Xinxin had a fever again. She got up and wiped her body with hot water. She fell to the ground when she walked. She was too weak to lose 70 pounds."Late cancer is the same."
In order to treat Xinxin, this family carried 45 million debt, how to repay these arrears, and let Zhang Jing a headache.
When the night was quiet, Zhang Jingxian showed a fragile side."When? The word responsibility can be dug out thoroughly, lives out of the real self, and lives out what they want … Many people always say that I am strong, in fact, because no one knows the fragility of my heart …" MouIn the early morning of the day, Zhang Jing cried and knocked on the phone on the phone.
Zhang Jing said that when she couldn’t support it, she felt that Xin Xin was fighting against the disease, and she felt that she could not leave her daughter.
Xinxin fell asleep.
"The most brave baby"
Now, Xinxin has fixed the treatment plan and went to Chongqing once a month to evaluate her body.
Zhang Jing often uses video records Xinxin’s treatment process.In front of her camera, Xinxin took the medicine obediently; with her own medicine, she came to the injection room of the community hospital with a light car and handed the medicine to the doctor; she told stories to everyone.
In the interview, Zhang Jing said the most words "Xin Xin is the strongest and brave baby I have ever seen."
She had witnessed Xinxin alone as a puncture. Before doing it, Xinxin was afraid of shaking her whole body, but when she did it, she cooperated with the doctor.The "big and thick" needle pierced into her daughter’s body, as painful as it was tied into her body.
She still remembers that one time for MRI, because the inspection time is long, she needs Xinxin to keep her sleep, so the day before the inspection, she should not sleep too much.Her daughter had a high fever, weak, and very sleepy, but Zhang Jing could only wake her up.
In Zhang Jing’s opinion, it may be the strong and brave energy of her daughter, and she raised her twice when she rescued the ICU.
Xinxin, a 7 -year -old, is only 95 cm tall and weighs about 30 pounds. Like a two -year -old child, her 4 -year -old sister is taller than her.
Xinxin has the same temper as ordinary children.At home, she has to play first before giving her brother and sister.Sleeping only sleeps with her mother and sticking to her.Sometimes, her family was inconsistent with her, and she would "pull her face" and she would talk.
Xinxin’s character is also "a little warm".When in the hospital, Zhang Jing ate Xinxin’s remaining meals, but she knew that her mother worked hard, asked her mother to eat with her, and pretended to say "you don’t eat if you don’t eat it."Recently, Zhang Jing had been unhappy. She went to the hospital to get an injection. Xin Xin pulled her hand and said, "I don’t cry when I get an injection. I am brave, and you have to be brave."
Today, Xinxin has not been in elementary school.In September this year, Zhang Jing planned to enroll her elementary school.But Zhang Jing was also worried that in the event of being pushed down or encountered by other students in the school, this could lead to disease.
Xin Xin also has his own worry."Mom, I don’t want to go to elementary school, I’m so young, I’m afraid of other classmates jokes me." Zhang Jing said, at this time, she would "deceive" her daughter in good faith and told her to eat medicine on time.
The current treatment plan has maintained Xinxin’s condition to stabilize, which is the most gratifying thing for Zhang Jing.Even if there are 40,000 to 500,000 foreign debt at home, it takes thousands of yuan per month to maintain treatment. In Zhang Jing’s view, Xinxin can enjoy the childhood and school time like other children.It’s right.
Zhang Jing recalled the experience of taking her daughter for medical treatment over the years, and then seeing that she can see her daughter playing small sex every day, watch her cry, and see her laugh, which makes her feel that everything is worth it.
Source: Surging News