Recently, the Neurology Department of Zhongda Hospital Affiliated to Southeast University has successfully dealt with the complications of several rare disease patients. At present, they have gradually improved. This year’s February 28th is International Rare Disease Day, with the theme “Sharing the Color of Your Life”. Chief Physician Guo Yijing, deputy director of the Department of Neurology of Zhongda Hospital, reminded that with the advancement and popularization of genetic testing technology, more and more patients with rare diseases are diagnosed at present, and more attention should be paid to the management and treatment of diseases after diagnosis, so that each patient has the right to belong to own wonderful life.
Some time ago, 34-year-old Mr. Li (surname changed) was diagnosed with type II glycogen storage disease (Pompe disease). However, relying on invasive ventilator treatment is not a long-term solution, so Mr. Li and his family began to inquire more and more, trying to find a better hospital for follow-up treatment. After multiple verifications, Mr. Li and his family came to the Department of Neurology, Zhongda Hospital Affiliated to Southeast University. According to Mr. Li’s family, Zhongda Hospital has rich experience in long-term follow-up management of patients with Pompe disease, such as weaning of invasive ventilators, management of non-invasive ventilators, and assessment of their condition after enzyme replacement therapy. Come here for follow-up treatment.
Dr. Wu Di, assistant to the director of the Department of Neurology, Zhongda Hospital, pointed out that after a preliminary examination, it was found that Mr. Li’s diaphragm muscle thickness was acceptable, and the auxiliary respiratory muscles were more preserved, and he could breathe spontaneously during the day without obvious carbon dioxide retention. , Blood gas monitoring is also better in the case of low ventilator support conditions at night. Therefore, we will continue to carry out enzyme replacement therapy, and carry out relevant drug adjuvant therapy in a targeted manner. The neuromuscular disease multidisciplinary diagnosis and treatment team will follow up the whole process, instructing Mr. Li in respiratory muscle exercise, limb muscle strength rehabilitation, nutritional guidance, and bone mineral density assessment. , heart function, digestive function and other indicators of comprehensive treatment. According to the evaluation results, the team has adopted non-invasive ventilation for the patient, and Mr. Li is expected to improve and return to society sooner.
There is another patient, Jiajia (pseudonym), who just turned 13 this year. He was diagnosed with Duchenne muscular dystrophy (DMD) when he was 3 years old. In the past, he especially loved to draw, but then his body became weaker and weaker, so he stopped drawing. Every day he woke up, he only liked to lie in bed and play with his mobile phone. Recently, Jiajia frequently felt chest tightness at home and had poor sleep at night, and went to the local hospital for treatment. Because the local hospital lacked the treatment and management experience for such rare diseases, Jiajia’s mother brought him to the Department of Neurology, Zhongda Hospital Affiliated to Southeast University. And quickly went through the admission procedures. The team suggested that Jiajia should start intermittent non-invasive ventilator use as soon as possible while nourishing muscles, system rehabilitation, especially respiratory function rehabilitation, and adopt traditional Chinese medicine treatment to improve osteoporosis, control heart rate, promote gastrointestinal motility and absorption.
At the same time as the physical treatment, the doctor also taught Jiajia’s mother about the disease, so that her mother can fully understand the problems that need to be paid attention to in the later stage of Duchenne muscular dystrophy, and let her know more People with Duchenne Muscular Dystrophy, like everyone else, can have a strong heart and a wonderful life. After Jiajia’s condition improved, his mother began to guide Jiajia to communicate with others and regain her hobbies. When Jiajia repainted the first “Ultraman” painting, Jiajia’s mother was very excited, and sent the “Ultraman” full of courage and energy to Dr. Wu Di to share, thanking the medical team of Zhongda Hospital Work together.
Guo Yijing pointed out that more and more rare diseases are currently diagnosed clinically. With the support of national policies, more and more rare diseases can be treated with “orphan drugs”. With the development of technology, more rare disease drugs are about to be launched or are undergoing clinical drug trials. The Department of Neurology of Zhongda Hospital attaches great importance to the diagnosis and treatment of rare diseases, and cooperates with the Department of Respiratory and Critical Care Medicine, Department of Gastroenterology, Department of Traditional Chinese Medicine, Department of Clinical Nutrition, Department of Cardiovascular Medicine, Department of Endocrinology, Department of Medical Imaging, Department of Psychiatry and Department of Rehabilitation Medicine. Conduct multidisciplinary diagnosis and treatment (MDT), provide professional diagnosis, standardized medication and systematic long-term management, hoping to maintain the physical and mental health of patients to the greatest extent.
At the same time, I also hope that everyone can pay more attention to the diagnosis and management of rare diseases. Even though there is no effective drug treatment for many rare diseases at present, systematic and standardized management and treatment can also achieve certain results. I believe that more and more rare disease patients will have a more wonderful life like everyone else around them with the understanding, support and company of their families, the careful guidance, treatment and personal persistence and efforts of the medical and nursing team. Correspondents Wang Qian Cheng Shouqin
Nanjing Morning News/Love Nanjing reporter Qian Ming