But as the days went by, the child's "foot eversion" characteristic became increasingly apparent. In May, the couple brought their child to the Orthopedics Department of Nanjing Maternal and Child Health Care Hospital. "At that time, we thought it was due to calcium deficiency, poor bone development, or possibly rickets, X-shaped legs, and the doctors also diagnosed it as such," but since the tests showed all nutritional elements were normal, they didn't take immediate action. By August, with the child about to enter kindergarten, they purchased a corrective brace for him. Mr. Chen took out a pair of dark green braces, saying that every night before the child went to sleep, they would tightly bind the child's legs into the brace. Since at that time, Niuniu's ankles were already very stiff and unable to freely bend to within 90 degrees, while the maximum angle of this brace was 90 degrees, each time the child would struggle in pain, yet still had to wear it all night.
The doctors he consulted all told him that if untreated, the child could survive for four or five years, eventually completely losing the ability to walk, with speech, vision, and swallowing functions declining thereafter, leading to extreme suffering and ultimately threatening life. If a bone marrow transplant were to be done, the success rate was lower than that for leukemia, and whether or not the child could survive the six-month surgery period was uncertain. "If only I could save him, even with a 0.1 chance, I wouldn't let him go." He said that so-called successful bone marrow transplants merely mean the new cells have survived, but the nerve damage caused previously is irreversible. No one knows how much the surgery can help the child. They were caught in a double-bind dilemma. "Do parents have the right to make such life-and-death decisions for him?" he asked, but no one answered. At this point, this man in his thirties, who had been holding back for a long time, couldn't stop the tears from falling.
A hospital in Beijing once announced treatment for children with leukodystrophy.
Before publishing this article, I also contacted Professor Wu Depei from the First People's Hospital Affiliated to Soochow University. Professor Wu stated that metachromatic leukodystrophy is a chromosomal genetic disease caused by the absence of arylsulfatase A on chromosome 22, which leads to a central nervous system disorder. Gene therapy is theoretically recommended but has not yet been applied clinically. Bone marrow transplantation can also be considered as a treatment option, but whether it can adjust the missing enzyme through bone marrow transplantation is difficult to predict. Moreover, for a three-year-old child, the risk of surgery is significant. If the child's parents insist on going through this 'life-and-death battle,' the hospital can consider providing medical assistance, including bone marrow transplantation. "However, even with bone marrow transplantation, it will only be like an ordinary case, without any specific bone marrow transplantation targeting metachromatic leukodystrophy." The outcome after transplantation is hard to predict and will depend on the comprehensive evaluation of the child's examination results.
One hospital has considered offering medical assistance.
The child is named Niuniu and will turn three years old in three days. He is currently undergoing new examinations at a hospital in Beijing. In the home filled with Niuniu's toys and photos, Mr. Chen recalled the first time he noticed his son walking abnormally. "It should have been in April 2011 when he was 26 months old. One day, we suddenly noticed that when he walked, his left leg always dragged behind, and his feet turned outward." But neither Mr. Chen nor his wife could have imagined that it was a symptom of some rare disease. "Every time we saw him like this, we would scold him for not walking properly. Now thinking about it, it was really wrong," Mr. Chen lowered his head in self-reproach, regretting deeply.
Weibo Recommendation | Today's Hot Topics on Weibo
I contacted the child's father, who found domestic cases online where bone marrow transplants gave children a glimmer of hope. However, the hospitals they contacted were unwilling to perform risky surgeries because these hospitals had never had such precedents, and the theoretical success rate was extremely low. Doctors told them that without treatment, the child could live for another four or five years; a bone marrow transplant might not even last six months. Should they save him or not? The parents decided deep down to embark on a life-or-death adventure with their three-year-old son. "This may be our last hope, to give him a little chance to live." But whether or not to proceed with the transplant, they were stuck in a deep dilemma.
On the afternoon of the previous day, an urgent rescue post appeared on the Nanjing Xici website. Within less than 24 hours, it garnered over ten thousand clicks, with more than a thousand replies. The post claimed that their two-year-old child had contracted an extremely rare disease. Initially, it was just unsteady walking, but now he has completely lost the ability to walk independently. They visited major hospitals across the country but received no answers, and only recently was the child diagnosed with metachromatic leukodystrophy.
Four hours after the post was made, there were already over 500 replies, and by yesterday afternoon at 6 p.m., the replies exceeded 1000, with over ten thousand clicks. As of this writing, replies are continuing to increase at nearly two pages per hour. Love is rapidly spreading among netizens, and the life of this three-year-old boy has become the focus of many netizens' attention. I obtained contact with the phone number left in the post, and it was the child's father, Mr. Chen.
■ Link
■ Urgent Net Post
But Niuniu wore the brace for four months with no effect.
"The changes in these two months have been too great. Previously, he could still walk with support, but now he cannot walk at all and can only lie in bed. I am really worried that it will continue to deteriorate. If we don't act quickly, I dare not imagine the consequences," Mr. Chen said anxiously again and again. "After so many blood draws, the child's arms and legs can no longer be punctured, and the blood must be drawn from the neck. When he moves, I have to hold him down, and after the blood draw, his face is marked with spots." However, this is not what troubles him the most.
Mr. Chen said that the online post was not made by him but by Mr. Huang, the parent of one of Niuniu's classmates from kindergarten. It was the support from these parents and teachers that gave him some strength. I called Mr. Huang, who said that he learned about Niuniu's current condition the other day at the kindergarten when Niuniu's father came to complete the withdrawal procedures, and decided to post for help. "We don't know much about this disease either, so we mobilized friends and acquaintances around us to find people who understand this disease and can help." He sent the post to all his friends and colleagues, trying to spread the news through various channels. But the large number of replies on the Xici forum was due to the efforts of Ms. Zhang, the mother of another kindergarten classmate.
He worked hard but couldn't support his frail body.
Share to: Welcome to publish comments, I want to comment.
To confirm the diagnosis, on January 30th of this year, they rushed to the Guangzhou Women and Children's Medical Center for further checks.
In a state of urgency, without waiting for the results, they headed to Beijing two days later. "Doctors also diagnosed it as leukodystrophy, and the day before yesterday, Guangzhou confirmed it as metachromatic leukodystrophy. There is no special treatment method, and even bone marrow transplantation offers a low success rate and uncertain results, suggesting abandonment." Mr. Chen spoke slowly and depressingly.
Reporters: Chen Jing
Parents are conflicted: should they take a chance with a bone marrow transplant?
Kindergarten parents and teachers helped post and spread the word.
Next, they brought their child to the Jiangsu Province Children's Hospital and began nearly two months of rehabilitation exercises. "I massage his ankles every evening. His ankles are much stiffer than those of normal people." Mr. Chen opened up many videos taken previously of his child. In a video recorded in November 2011, little Niuniu tried hard to climb a few steps. Before each step, he stared fearfully at the step, lifting his foot and then putting it down again. When one foot landed on the platform, his whole body trembled and swayed as he moved the other foot forward. "At this point, he walks on his toes first, with his heels following, making his balance unstable," Mr. Chen said. Each step Niuniu takes leaves him panting and extremely tired, and climbing uphill shows particularly weak heel strength, with his legs forming a wide "eight."
Due to abnormal gait caused by the disease, four months of correction yielded no results.
Who would guess the central nervous system was "poisoned"? All doctors refused treatment.
"The mother of Niuniu posted on the kindergarten board before the Spring Festival, but we only saw it on the fifth day of the New Year. Many parents were moved to tears while reading it," and on the sixth day during the meeting, several parents discussed how to help Niuniu's family. When she learned that some parents had already posted it online and heard that if the replies exceed 1000, it could gain attention from society, she immediately requested the principal to send mass messages to all parents and teachers, hoping for everyone's support. "We have over 400 people, and if each person posts two replies, it would be enough." Such goodwill spread among parents and teachers, and I observed that in over 20 pages of replies, multiple people often leave comments within a minute. Additionally, some unknown netizens also offered blessings and strength. "If bone marrow matching is needed, count me in," a netizen named atelas left contact information, and many others volunteered for matching.
Without treatment, the child could live for four or five years, but entering surgery might not last more than half a year.
The couple was anxious. On January 10th of this year, they went to two hospitals in Shanghai, diagnosed with likely neurological diseases. After a week, the electromyography and MRI results came out. Mr. Chen clearly remembered it was on the twenty-fifth day of the lunar month when the doctor in Shanghai informed him over the phone that the child was diagnosed with leukodystrophy, possibly metachromatic, with upper and lower limb peripheral nerves damaged. "The doctor said the child lacks an enzyme in his body, causing metabolites to accumulate, leading to chronic poisoning of the nerves and brain, essentially toxins building up inside." Talking about it today, the despair and shock seem vividly present. The doctor then suggested he take the child home to let him enjoy life for a few more years. "We kept thinking, we really couldn't accept it, it's a life!" They sought help again at hospitals in Nanjing, but the doctors' answer was that if Beijing couldn't treat it, there was no point taking the child elsewhere for further testing or treatment—it would only cause unnecessary suffering.
Although they haven't yet found a hospital or donor capable of performing a bone marrow transplant for Niuniu, his parents are torn by another dilemma: if a bone marrow transplant becomes possible, should they proceed with it? Mr. Chen said that since the child was diagnosed with this condition, he and his wife spent countless hours online, "We searched all major relevant hospitals and renowned doctors' websites, and everything we read scared us." According to him, there are only a handful of known cases nationwide, with an incidence rate of approximately one in 160,000, hence why it is called a "lonely disease." One day, he suddenly saw a report saying there was a successful bone marrow transplant case where the deficient indicators started to rise, giving him a sense of direction and hope, though the story ended there.
Ultimately, whether the patient's external symptoms and "enzyme" levels return to normal and remain healthy has not been reported further. Niuniu before getting sick. After getting sick, Niuniu's "eight-shaped" gait became very noticeable.
"Our family was once very fortunate. The child will turn three years old on February 15th this year, and he was very obedient. Around May 2011, we noticed that his walking, which was previously agile, had become unsteady, and his gait began to change." A post by a netizen named "Hello1122" narrated gently on the afternoon of February 10th. The post introduced the progression of the child's condition and their journey seeking medical help across the country. "By the end of last year, the child was already having difficulty walking. After a series of examinations in Shanghai, Nanjing, and Guangzhou, he was diagnosed with metachromatic leukodystrophy. The doctors informed us that this disease has no effective treatment method and will eventually lead to the child's full paralysis and even death." The words conveyed exhaustion and helplessness, as every doctor they encountered told them, "Take good care of the child and make sure he lives happily." But as parents, how could they abandon him? Thus, this plea for help was written.
Love is spreading.