Rare disease = untreatable? Expert: Early diagnosis and early treatment can control most rare diseases of the neuroimmune system

China News Service, Shanghai, October 30 (Reporter Chen Jing) In many people’s minds, rare diseases are “rare, difficult to treat, and hopeless.” Professor Chen Sheng, a neurology expert in Shanghai, said bluntly in an interview on the 30th that for most patients with rare diseases of the neuroimmune system, "rare" does not mean "cannot be cured." With early diagnosis and early treatment, many patients can "come in sick and be discharged from the hospital in good health."

Rare neurological diseases account for "half of the world" of rare diseases, about half of which are rare diseases of the neuroimmune system. According to reports, autoimmune encephalitis (referred to as "autoimmune encephalitis"), central immune diseases, and myasthenia gravis are all rare diseases of the neuroimmune system. Celine Dion suffers from stiff-person syndrome, which also falls into this category.

"The human body's immune system is originally designed to defend against foreign enemies. But under certain inducements, it 'betrays' the human body and attacks the brain, spinal cord, nerves and muscles." Professor Chen Sheng explained that patients with autoimmune brain disease will show a variety of symptoms, such as sudden epilepsy, hallucinations, personality changes, unsteady walking, etc.

Professor Chen Sheng, deputy director of the Department of Neurology at Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, pointed out that many autoimmune brain patients are first sent to psychiatric departments and treated as schizophrenia, but their symptoms become increasingly severe. He once treated a 17-year-old girl. At first, her family thought the child was under great pressure to study and sent her to a local mental health center for treatment, but she never improved. In her department, the girl was diagnosed with autoimmune brain disease. After receiving standard immunotherapy for about three months, she completely returned to normal.

"Early diagnosis and early treatment, most patients only need to take medicine to control the disease without recurrence." Professor Chen Sheng said that the treatment of neuroimmune system diseases has moved from "broad-spectrum bombing" to "precise acupuncture." In the past, doctors had to rely on hormones to completely suppress the patient's immune function. The patient gained weight, grew hair, suffered femoral head necrosis, and increased blood sugar and blood pressure. Now, innovative treatments can be used to eliminate lymphocytes that produce "bad antibodies." "In the future, CAR-T therapy is expected to be used in the treatment of refractory neuroimmune diseases." Chen Sheng believes.

The expert bluntly said that when people suddenly suffer from refractory mental disorders, have sudden epilepsy, or young people suddenly suffer from vision loss, overlapping vision, and loss of strength in their hands and arms, they should go to the neurology department for evaluation in a timely manner.