10-year-old girl Nini (pseudonym), was diagnosed with the rare disease "injured to the bone" of X-chain hypophosphorus rickets (English name: XLH). At the age of being lively and having pain in her legs, she is still at risk of being disabled. Fortunately, with the first prescription of the targeted therapeutic drug for the disease, Brosoyumab, in our province, Nini became the first patient to benefit from Fujian Province.
The day after taking the medication, Nini's condition improved. Nini's mother said, "This is my happiest day in the past 10 years!"
"Crocodile legs" baby leg pain
is actually a rare disease
Nini was born in Zhangzhou , she looks cute and beautiful. When she was staggering and walking for 13 months, her family found that her legs could not be closed and she had obvious "rolling legs". In order to avoid affecting their future walking and appearance, they quickly took Nini to the local hospital for examination. The doctor diagnosed rickets and asked Nini to try to bring correction equipment. However, my mother still can't forget the scene of Nini crying with the correction equipment.
Later, they went to several hospitals for medical treatment. When Nini was 16 months old, the hospital's examination results made the family feel bolt from the blue: the blood phosphorus index in the test report is low. What Nini suffers from is not the traditional calcium deficiency rickets, but a rare disease - XLH.
This disease can occur in early childhood and mainly affects the skeletal system. Most children develop lower limb deformities when they start carrying weights nearly one year old, accompanied by growth delay, bone pain, etc.; muscle weakness and abnormal teeth development, which can easily cause bone deformities, fractures, bone pain, , hearing damage, and eventually disability and teratogenic.
This disease will affect the patient's life. If the patient does not receive effective treatment in the early stage, he will often lose his ability to work in adulthood and need the care and care of family members, bringing a heavy burden on the patient's family.
"At that time, the whole family was confused and desperate." Nini's mother said. In the next few years, Nini could speak and often told her family that her legs hurt. Especially in the past two years, Nini's condition has become more and more serious, and she is much shorter than her peers. When it is serious, she even gets up in the morning and is unable to stand in pain. "Every time the child yells heart-wrenchingly, 'Mom, I feel so painful', 'Why is my legs so painful? I want to saw off my legs.' And as a mother, there is nothing she can do except hug Nini and cry." Nini's mother felt distressed and helpless about this.
was ridiculed as "little dwarf"
The child was physically and mentally injured
"There is no doctor and less medicine", and XLH patients are facing treatment difficulties in clinical practice. In the past 10 years, Nini has only received symptomatic treatment, namely, supplemented with phosphorus and active vitamin D. But "phosphorus water" tastes astringent, so you have to take it 4 to 6 times a day, and you have to get up in the middle of the night to take medicine. In addition, drinking "phosphorus water" also has the risk of complications such as diarrhea and secondary hyperparathyroidism. Nini's mother said, "The main thing is to replenish phosphorus is to treat the symptoms but not the root cause."
For Nini, in addition to the pain, the wounds in her heart are getting bigger and bigger. At the beginning, Nini's parents did not tell her that she had the rare disease . Nini's height has always been 130cm, and she was teased by the children as "little" and "short".
Nini asked: "Why am I different from other children?" Later, the clever Nini browsed records through her parents' mobile phones and found out the rare disease she suffered from online. Nini's mother said, "The child's mood suddenly became very bad." Nini went from falling in love with school to being rejected from going to school and being opposed to contacting others. Because the illness seriously affected the school class, Nini's grades were regressed to the last few in the class. Nini's mother has been with her child full-time from the day she was diagnosed and immediately looked for psychiatrist counseling for her child.
In January 2021, brosociumab was approved for the treatment of XLH patients aged 1 and above in my country. After Nini's father looked up information online and learned about the situation from some patients, he was particularly excited and always paid attention to this innovative treatment drug, but the high treatment cost discouraged the whole family.
She became
The first child to benefit in our province
This year, good news came.In July, the Beijing Kangmeng Charity Foundation's "Lindong Xinsheng- Low Phosphorus Rickets Patient Rescue Project" was officially launched, aiming to help reduce the financial burden of patients and improve the quality of life of patients.
htmlOn September 1, the customized commercial medical insurance "Huiminbao" in our province was officially launched. After receiving the news, Nini's parents immediately asked Chen Ruimin, director of the Department of Endocrinology and Genetic Metabolism of Fuzhou Children's Hospital Affiliated to Fujian Medical University.Director Chen Ruimin evaluated Nini's various indicators and decided to allow Nini to be hospitalized as soon as possible and receive brosoyumab treatment.
html In early September, Fuzhou Children's Hospital affiliated to Fujian Medical University prescribed the first prescription for brosoyumab in the province. With the support of commercial medical insurance and patient assistance programs, Nini successfully used this drug to treat it and became the first patient to benefit from our province.
The child Nini (pseudonym) and her mother
Chen Ruimin, director of the Endocrinology and Genetic Metabolism Department of Fuzhou Children's Hospital Affiliated to Fujian Medical University, said: "After taking the medicine, we observed that her blood phosphorus level had significantly improved, and the symptoms were relieved, and Nini's condition was getting better and better. We also really felt the joy and trust of the child."
"Ni's feet stopped hurting when she woke up, but she felt a little sore and swollen. She ran over happily and told me that she felt unprecedented relaxation! Nini, who was originally silent, suddenly became energetic." Nini's mother said excitedly that this was her happiest day in the past 10 years. They look forward to the entry of Brosoyumab as soon as possible and being included in the national medical insurance, so that more children like Nini can regain their "new life".
"Although disease is rare, care cannot be rare. The group of patients with rare diseases needs the attention and exploration of the entire society, and work together to solve the problem." Director Chen Ruimin added, "I am very pleased to see that Fujian XLH patients use innovative targeted therapeutic drugs with the support of all parties. I believe that more and more comprehensive protection policies will be introduced in the future. I also hope that medical insurance, commercial insurance and all sectors of society can continue to pay more attention and support to XLH patients and other rare diseases. Establish a "multi-party co-payment" model for rare diseases, further improve the multi-level guarantee system, reduce the economic burden of patients on medication, improve the quality of life, and return to society as soon as possible. "
About X-chain low-phosphorus rickets
Low-phosphorus rickets is a group of rare diseases with increased phosphorus discharge in the kidneys due to hereditary or acquired causes, causing bone mineralization disorder characterized by hypophosphatemia, and was included in the "First Rare Disease Catalog" No. 51 rare diseases. X-linked hypophosphorus rickets, or XLH, is a type of hypophosphorus rickets, accounting for about 80% of hereditary hypophosphorus rickets. XLH is caused by local and systemic lesions due to mutations in peptidase homology of in X chromosome . The mutated PHEX gene interferes with the degradation of fibroblast growth factor 23 (FGF23), leading to an increase in FGF23 in the blood circulation, resulting in increased excretion of phosphate in the kidneys, while inhibiting intestinal phosphorus absorption, ultimately causing hypophosphatemia.
About Chen Ruimin, Director of the Department of Endocrinology and Genetic Metabolism of Fuzhou Children's Hospital Affiliated to Fujian Medical University, As a leading talent in the major of pediatric endocrinology and genetic metabolism in Fujian Province, Director Chen Ruimin has been engaged in the clinical work of pediatric endocrinology and genetic metabolism in children for nearly 30 years. On July 20, 2022, Director Chen Ruimin was elected as the first chairman of the Rare Diseases Branch of the Fuzhou Medical Association. He has led the hospital's endocrine genetic metabolism department to build a high-quality diagnosis and treatment platform for children with rare diseases. Fuzhou Children's Hospital Affiliated to Fujian Medical University has always attached great importance to the diagnosis and treatment of rare diseases. The hospital's endocrine, genetic and metabolic department began its specialized diagnosis and treatment more than 20 years ago. The department has accumulated rich clinical experience in the diagnosis and treatment of rare diseases.
Currently, the hospital has diagnosed and treated more than 170 kinds of rare diseases, and has received more than 50,000 children from all over the province and even other provinces every year. The hospital conducts free medical consultations and free medical consultations of rare diseases from time to time every year, and is committed to helping children and parents with rare diseases identify, diagnose and treat early, with significant social benefits.
Chen Dan/text Image provided by the hospital
Source: Fuzhou Evening News
