The woman sent a circle of friends "I want to die unexpectedly", and the Shanghai doctor corrected her C-shaped spine

"I want to die unexpectedly, a death that no one cares about, just like no one cares about my arrival..." In 2018, Tashiji, a young Tibetan woman, sent such a message in the circle of friends. At that time, due to spinal muscular atrophy, her spine was bent by 110 degrees, her body was like a C shape, and her legs and feet were weak and she could not walk normally.

Spinal muscular atrophy, abbreviated as SMA, is a rare inherited neuromuscular disease and a recessive genetic disease that can cause physical disability, and patients will develop physical weakness, loss of motor function and even respiratory failure and death as the disease progresses.

Four years later, on February 28, 2022, Tashiji ushered in a "rebirth" that helped her regain hope in life, including a team of doctors from Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, and a tax cadre from the tax system of Ordos City, Inner Mongolia.

Now she can sit with her waist straight, no longer need arm strength to support her body, her hands finally have a certain freedom, and eating is normal.

The multidisciplinary team of SMA of Shanghai Xinhua Hospital and the Yang Junlin team of the Spine Center conducted a multidisciplinary consultation for Tashiji. Courtesy of Shanghai Xinhua Hospital

Memories: The help of the circle of friends rekindles the hope of life

Tashiji is 23 years old and from Gansu Tibetan Autonomous Prefecture.

In 2018, Tashiji's circle of friends message with the signal of "light life" attracted the attention of Ms. Wu, a tax cadre in the tax system of Ordos City, Inner Mongolia. She decided to do her best to help Tashiji get up.

Ms. Wu met Tashiji when she was doing public welfare activities, when Tashiji suffered from severe scoliosis, was bedridden for many years, and her family was particularly poor and unable to treat. After seeing the news from the circle of friends, Ms. Wu persuaded Tashiji to go to Beijing to see a doctor, but because of his complicated condition, serious scoliosis, and combined with restrictive ventilation dysfunction, Tashiji also failed to get effective treatment. Eventually, she came to Shanghai and found Yang Junlin, director of the Spine Center of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine.

The multidisciplinary team of SMA of Xinhua Hospital conducted a multidisciplinary consultation for her and confirmed that she had SMA-III. According to the data, SMA is a rare hereditary neuromuscular disease, the incidence of live births is about 1/10000, and the frequency of population carriers is about 1/40-1/60. Patients with SMA are denatured due to pathogenic variations in the SMN1 gene on chromosome 5q, resulting in a deficiency of motor neuron survival protein (SMN), resulting in degeneration of motor neurons in the anterior horn of the spinal cord, which in turn causes severe muscle atrophy and weakness.

Experts from Xinhua Hospital said that SMA is a recessive genetic disease that can cause physical disability, and people who suffer from physical weakness, loss of motor function and even respiratory failure will die with the development of the disease. With the continuous progression of the disease, it will also cause scoliosis, resulting in the tilt of the body, can only be barely supported by hand to sit in a wheelchair or lie on the bed, severe scoliosis will also compress the heart and lungs and other organs, further reduce respiratory function, endangering the safety of patients' lives. Spinal muscular atrophy is divided into four types, of which type III accounts for about 20%, and the onset occurs after 18 months of life.

Doctor: SMA is incurable, and that doesn't mean it can't be treated

"With existing technical conditions, most patients can undergo surgical treatment!" Yang Junlin said that after learning about Tashiji's condition, the hospital's SMA multidisciplinary team formulated a corresponding treatment plan for her, and he also decided to perform scoliosis orthopedic surgery for her and apply for the rescue of the Xinmiao Public Welfare Charity Fund for her.

The surgery was finally completed smoothly, and then Tashiji was discharged from the hospital and went home to recover. When he was discharged from the hospital, Tashiji also presented Yang Junlin with a white hada.

"Our team has established a multidisciplinary comprehensive diagnosis and treatment system for SMA before this, completed more than ten cases of spinal orthopedic surgery in patients with severe scoliosis and severe respiratory dysfunction SMA, established a mature and perfect spinal orthopedic surgery process, and the maximum degree of treated spinal deformities reached 176 degrees." Yang Junlin further said that through such surgery, patients can increase their confidence in the disease.

On the eve of February 28, 2022, Yang Junlin received a video of thanks from Tashiji 100 days after he was discharged from the hospital. Tashiji in the video, looking very sunny, smiled and said, "Director Yang, hello! I'm recovering well now, eating is normal, much better than before, and the wound doesn't hurt anymore... Thank you for your concern! ”

Ms. Wu also wrote a letter of thanks to Yang Junlin, in which she wrote: "Meeting you is the greatest blessing for Tashiji, thanking Director Yang for allowing me to feel such a beautiful thing in such a complicated world, I will also gradually drift away on the road of public welfare... I wish Director Yang's team more and more superb medical skills and rescue more children like Tashiji. ”

Yang Junlin said: "For a long time, spinal orthopedic surgery has been regarded as a 'forbidden area' for severe spinal muscular atrophy, but now, it is necessary to change the SMA's concept of 'incurable equals untreatable' and establish a new concept and confidence that comprehensive treatment can improve the condition." ”

The above experts said that when the degree of scoliosis is less than 50 degrees, conservative treatment can be taken to delay the progression of scoliosis, but when the degree of scoliosis is greater than 50 degrees, it is recommended that patients operate as soon as possible to improve the quality of life and avoid the development of more severe scoliosis. For surviving patients with type II and type III SMA, scoliosis occurs in more than 90% of patients with worsening of the disease, so it is necessary to attract the attention of parents, and early detection and early treatment are particularly important.

"Now, with the advent of SMA drugs, patients can delay the progress of the disease through drugs, SMA patients and parents should establish the concept of comprehensive treatment, and establish the confidence that comprehensive treatment can improve the condition." Yang Junlin said.