Zhejiang University: China’s only inpatient ward for rare diseases

The establishment of the ward is out of practical considerations. Patients with rare diseases suffer from great pain as well as the stigma of strange diseases. Plus, the inconvenience to travel between cities and the long wait for diagnosis result make patients forego more face-to-face consultations. Having seen that, Prof. WU Zhiying, a leading expert in rare diseases and vice president of SAHZU, feels the urgent need to provide accurate diagnosis and treatment for these patients.

After 23 years’ efforts, Prof. WU finally set up her rare disease inpatient ward at SAHZU. Now, it is much easier for patients with rare diseases to be seen by a doctor — After admission, most diseases can be diagnosed within a week by genetic screening.

“121 types of rare disease in the National List of Rare Disease 2018 are managed in the ward and investigated in our research center,” said Prof. WU.

23 patients are currently staying in the Neurology Ward V. The oldest is 67 years old, while the youngest only 10 years old.

The “Lucky One” with rare disease

If he hadn’t suffered from this rare disease, the 21-year-old boy HE Yu, would be sitting in the medical school’s classes like his peers. His ambition was to become a doctor, like his father.

In January 2020, Yu returned home after the first semester of his junior year. After he arrived, he felt weakness in his right leg, but thought he was tired from the rush.

However, this symptom lasted for about six months until one day in September when Yu called his father and said that his right leg hurt so bad that he even had some difficulties going up the stairs. His father asked him to have a CT scan which showed everything was normal in his leg except some edema.

By January 2021, Yu’s condition was deteriorating rapidly, with hand tremors causing him failure to hold chopsticks and buttons, and then even his speech began to be slurred. His father as a doctor immediately realized that this may not be a leg problem and rushed to his boy’s side with his wife.

After a month of diagnosis efforts, on the second day of the Chinese New Year, doctors of Wuhan Tongji Hospital finally gave their advice that Yu might have hepatolenticular degeneration, also known as the Wilson Disease.

Wilson Disease? Yu clearly remembered that when he had learned about this rare neurological disease in his medical school course Neurology. However, he never thought that he would have this disease.

On the advice of doctors at Tongji Hospital, Yu came for treatment at the fifth Neurology Ward of SAHZU from March this year.

After a series of tests such as genetic testing, brain MRI and liver ultrasound, Prof. WU confirmed that Yu had Wilson Disease and formulated a corresponding treatment plan for him: the goal is to use medicine to remove extra copper from his body while HE Yu should keep a low-copper diet, avoiding food with high copper levels such as nuts, shellfish, mushrooms and chocolate.

This is the 6th time that Yu has been admitted to SAHZU. Each time, he has to take roundtrip flights.

“Every month, Yu has to stay at SAHZU for 7 days for therapy, about 10,000 yuan each time. From the second time of therapy on, my son could walk independently,” Yu’s mother said. “The doctor recommends more exercise for hands and feet. Therefore, I play poker with him sometimes. He can hold chopsticks quite well now. Last time when we were at the hospital, we met an 18-year-old young man with the same disease. He had the treatment for two years, and he is now walking and talking very well, which gives us a lot of confidence.”

Yu is very optimistic about his condition. Because he knows, that among all rare diseases, only a very few can be treated, and he is lucky enough to be one of the few.

“If you are sick, you need the treatment. It’s just as simple as that. I am not scared by the disease. I feel very good today and want to go back to school as soon as possible,” Yu said, word by word, although his speech was still a little slurred, but everyone in the room could understand. When he finished, he stood up and walked around, smiling brightly.

Diagnosis is not the most difficult

Currently, there are more than 7000 recognized rare diseases in the world, but new rare diseases are still being discovered every year. The conservative estimate is that more than 20 million Chinese people are living with a rare disease, most of which are undiagnosed diseases.

Patients, like Yu, who have the definite diagnosis and know which rare disease they have are the lucky ones, as some people may never know what they have.

One of the goals of the International Rare Disease Research Consortium (IRDiRC) for 2017-2027 is that all suspected rare disease cases with precedents in medicine will be diagnosed within one year of initial diagnosis, and all currently undiagnosed cases will enter a global collaborative diagnostic and research process. Difficult undiagnosed diseases are the ultimate challenge for human to understand diseases in the medical field.

However, in Prof. WU’s opinion, the diagnosis of rare diseases is not the most difficult part, but the real challenge lies in the treatment.

Of the over 7,000 known rare diseases, less than 5 percent have effective treatments, and only about 60 percent of the 121 diseases included in China’s first catalog of rare diseases are “treatable”, leaving a gap in the current treatment for most rare diseases.

“Despite the grim reality, patients shall not lose faith,” Prof. WU said. “Some rare diseases do not have drugs yet. I hope patients understand that living is the most important. Living is hope, and maybe in three to five years the drugs will be developed.”

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