Patient Story

China's Only Inpatient Ward for Rare Diseases

The Neurology ward V of SAHZU is an inpatient ward entirely for patients with rare diseases, the only one in China. 

The establishment of the ward is out of practical considerations. Patients with rare diseases suffer from great pain on the one hand, and the stigma of "strange diseases" on the other. Plus, the inconvenience to travel between cities and to wait several days for definite diagnosis makes many patients choose to leave after just one single outpatient consultation. Seeing too much of that, Prof WU Zhiying, a leading expert in rare diseases and SAHZU Vice President, feels the urgent needs 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, the youngest 10 years old. 

These are their stories.



Diagnosed with Incurable Rare Disease in Moneymoon

27-year-old WANG Yi does not look like a patient. He is tall, with short and neat haircut, wearing a sports suit, looking cool and handsome. But WANG is clear that his family somehow can never escape the fate of being sick with that disease.

As far as he can remember, when he was seven or eight years old, he often saw his mother staggering when she walked, but at that time she was still able to control herself. By the time he was about 11 years old, his mother fell to the ground frequently because she could not walk steadily. As her condition worsened, by the time she was 36 years old, she was confined to bed for long periods of time and her speech gradually became slurred. Later, even eating became difficult. She was not able to swallow even a mouthful of rice...... When she was 46-year-old, Mom passed away.

WANG Yi has never met his grandmother, who died before he was born. It is said that his grandma had similar symptoms.

No one knew what disease they had. Then, the same symptoms appeared again in his sister.

"My sister is 3 years older than me. She started to walk unsteadily since last year. Later, she was diagnosed with spinocerebellar ataxia by genetic testing. Now she has a wobbly and bumpy walk. She is not able to walk alone independently, so she quit her job to stay at home."

Seeing this disease probably runs in his family, WANG Yi visited SAHZU this time for a genetic diagnosis to clarify whether he has the same disease, because he got married this year. "I don't want my children to suffer too." WANG Yi said.

Spinocerebellar ataxia is an autosomal dominant disorder, which means that if one parent is a carrier of the pathogenic gene, there is a 50% chance that it will be passed on to the next generation. To make things worse, there is no specific drug for this disease yet.

The next day after admission, WANG Yi's genetic test results came out - spinocerebellar ataxia type 3. For this result, WANG Yi looked calm and seemed ready and prepared.

All he wanted to know is that if In vitro fertilization (IVF) would stop the disease from being passed on to his children.

Dr. YU Hao, a member of Prof. Wu Zhiying's team told him, "With the help of IVF, a healthy embryo can be identified before conception through manual intervention, which can block the disease-causing gene."

According to Dr. YU, although there is no cure for this disease at this moment, but if one can pay more attention to health, keep a balanced dietary, and do more exercises that are helpful to train balance and coordination, along with persistent rehabilitation training for microcephaly, it is very possible that the development of the disease can be slowed down.

Now, what WANG Yi and his family are really hoping for is an effective drug for the treatment of spinocerebellar ataxia, a cure for him and the other patients suffering from this disease.




Bright Future Awaits Her as Long as She Lives

LIN Jia is 29 years old and diagnosed with Pompe disease. She came to SAHZU in a wheelchair with her mother. LIN Jia has big eyes, fair skin, and a sharp ponytail. She is 156 cm tall but only weighs 28.5 kilograms due to severe muscle atrophy.

"I am here to get my second shot". Said LIN Jia.

"Thinking back, my daughter probably had the disease when she was very young." LIN Jia's mother said, "She was skinny as a child, but compared to other children, she just moved slightly clumsily and ran slowly, not much different. It wasn't until she got into the high school that my daughter's stamina gradually became significantly lower than normal. She struggled to walk up the stairs, and couldn't even get onto the bus, then I realized my daughter might be sick."

In order to find out the cause, LIN Jia was taken to the hospital for multiple examinations. "That was ten years ago. There was no such thing as genetic testing. The doctor suspected 'progressive muscular dystrophy' based on the results of her electromyography and other tests, and suggested no drug is effective to control her sickness."

In 2011, LIN Jia graduated from high school and was enrolled in a college in Hangzhou. But before finishing her freshman year, her condition deteriorated to the extent that she couldn't walk normally. LIN Jia had to leave school.

LIN Jia's mother quit her job in a shopping mall to take care of her at home full-time. "Our home is a three-floor house in the rural area. It has no elevator. I have to be there for my daughter at all time, carrying her up and down the stairs or to the toilet."

Although LIN Jia could no longer continue her college education, she is still full of hope for the future. She thought she would "need a college degree to find a job when she gets better". So, she signed up for an MBA course online and studied diligently, and got her diploma in two years.

But her condition kept worsening.

In 2014, LIN Jia was taken to the hospital due to respiratory failure. Her condition was so critical that she was so close to intubation in the ICU. Fortunately, LIN Jia survived and was discharged after more than a month hospital stay. But after that, she couldn't live without the ventilator.

LIN Jia remembers clearly that before she was discharged, her parents spent over 20,000 yuan to purchase a non-invasive ventilator for her. She was so young, but her life was "dominated" by the ventilator. In the last seven years, she can only move around as far as the breathing tube could reach.

Faced with a seemingly hopeless life, LIN Jia did not give up. Especially in recent years, she has been looking for the cause of her disease and has noticed that many drugs for rare diseases have been developed and marketed, among which several have been introduced into medical insurance.

In June 2021, on the advice of Prof. WU, she had the genetic testing and was finally diagnosed with Pompe disease (late onset type), which solved the real mystery of her "frailty".

As a rare disease, the diagnosis rate of Pompe disease is not high with many patients often misdiagnosed. Only a few hundreds of people in China has been diagnosed with Pompe disease and only a dozen in the Zhejiang Province.

One sliver lining to LIN Jia's condition is that there is a medicine for this disease. Only the cost is extremely high, and the dose is based on the patient's weight, the higher the weight, the greater the amount of medicine, the higher the cost. Take LIN Jia's weight of 28.5 kilograms as an example, one shot is about 60,000 yuan, twice a month, treatment cost for one year is up to 1.44 million yuan.

Very fortunately, starting from July 1, 2020, this medicine is officially covered by the basic medical insurance in Zhejiang Province, which means that these a dozen Pompe patients in Zhejiang can finally use this "life-saving drug".

"Not only there is a medicine for this disease, the cost is also covered by the government insurance!" Lin Jia's mother feels they are the luckiest as there are currently more than 7,000 rare diseases in the world, of which only less than 5% have a treatment. She firmly believes that as long as her daughter keeps taking the medicine, she will definitely get better eventually.

On August 23 2021, LIN Jia finally had the first shot of her "life-saving medicine". As liquid slowly flowed into LIN Jia's body, she and her mother were filled with hope. LIN Jia felt that her body had indeed undergone subtle changes. " It seems that I am having more strength than before, and my body feels much more relaxed!"

She believes that she could live a better life in future, and that one day she will be able to breathe and walk in the sunlight like a normal person.

"As long as I am alive, I will see the day when I get better." LIN Jia said.



The "lucky one" with rare disease

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

In January 2020, HE Yu returned home after the first semester of his junior year before the Chinese New 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 HE Yu called his father and said that his right leg hurt badly and that he even had some difficulties going up the stairs. His father asked HE Yu to have a CT scan which showed everything is normal in his leg except some edema. So, HE Yu went back to school. But by then, he was already walking much slower than the other students when he went up to the fourth floor of his dormitory.

By November, He Yu's right leg still hurt, and lifting the left leg becomes laborious too. With the help of his classmates, he had the second CT scan, the results of which is the same as last time – nothing wrong with his legs. 

By January 2021, HE Yu's condition was developing rapidly, with hand tremors that often made him unable 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 HE Yu might have hepatolenticular degeneration, also known as the Wilson Disease.

Wilson Disease? HE Yu clearly remembers 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, HE Yu came for treatment at SAHZU from March this year.

After a series of tests such as genetic testing, brain MRI and liver ultrasound, Prof. WU Zhiying confirmed that HE 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 at the meantime HE Yu should keep a low-copper diet, avoiding foods with high copper levels such as nuts, shellfish, mushrooms and chocolate.

This is the 6th time for HE Yu to be admitted to SAHZU. Each time, he has to take roundtrip flights.

"Every month, HE Yu has to stay at SAHZU for 7 days for medication therapy, about 10,000 yuan each time. From the second time on, my son could walk independently." HE Yu's mother said, "The doctor told us to let his hands and feet have more exercise. 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."

HE 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 well today and want to go back to school as soon as possible." HE Yu said word by word, although his speech is still a little slurred, but everyone in the room can understand. When he finished, he stood up and walked around, smiling brightly.



Finding the cause of his daughters' "strange disease"

Mr. LIN is a laboratory doctor in Xinjiang. He has two daughters. The older one is 4 years old and the younger one 1 year old. The older daughter started to walk at the age of 19 months, but her steps have been unstable, and until now she still walks wobbly, like walking on light cotton. Her examinations show that her motor nerves are normal, her brain MRI, neurological ultrasound and metabolite tests result all came back normal.

Mr. LIN and his wife traveled across country to consult with renowned neurologists, and had the initial clinical diagnosis of "hereditary sensory neuropathy", but after two genetic tests, no specific pathogenic gene was found in her daughter.

Because of his older daughter's condition, Mr. LIN specifically checked his younger daughter's knee-jerk reflex When she started to walk, and found that she has none. Could his little daughter have this same "strange disease" as her sister? So, Mr. LIN also did genetic testing on his younger daughter, but no pathogenic gene were found neither.

He went to Chongqing, Chengdu and Beijing multiple times, but was unable to confirm the diagnosis.

As a medical professional, Mr. LIN suspected that his daughters might have some kind of genetic rare disease. After studing all the genetic testing results of his daughters, "I found that both of my daughters have the same compound heterozygous mutation in gene COX20 inherited from me and my wife." Mr. LIN said.  

Following this clue, Mr. LIN searched the medical database of PubMed, and finally an article came to his attention.

The article was published in March 2021 in Brain, a leading journal in neuroscience, by Prof. WU Zhiying's team, and a conclusion of their research findings in six years.

Among the patients visiting the SAHZU's rare disease clinic, many have hereditary sensory neuropathy. Prof. WU's team quickly noticed that eight of them had the same compound heterozygous mutation in the COX20 gene. Could this gene mutation be the cause of their disease?

The team then began to follow up with these eight patients to explore the pathogenic mechanism of the COX20 mutation. The final chain of evidence showed that the COX20 mutation does reduce nerve cell function and thus disrupts sensory function.

Mr. LIN immediately sent an email to Prof. WU describing his daughters' condition and asking for help.

After contacting Prof. WU Zhiying's team, Mr. LIN asked experts in Beijing to analyze the cause of the disease again in conjunction with the genetic test results, and finally the experts at Peking University Hospital agreed that the disease was a hereditary sensory neuropathy caused by the COX20 mutation, and thus the mystery that had been haunting him was finally solved.

After clarifying the cause of the disease, Mr. LIN's main concern became his daughters' future prognosis and therapy.

He was told by Prof. WU' team that one of these eight patients is already in her 40s who is working and living normally. Despite unstable walking, muscle atrophy and foot joint disorder, there are not any life-threatening symptoms.

Although there is no specific drug for hereditary sensory neuropathy caused by COX20 gene mutation, this reply greatly relieved Lin family's anxiety. Mr. Lin said that his family is willing to participate in the clinical research for novel treatments or clinical trials in future.


The diagnosis is not the most difficult. The real difficulty is the treatment.

The family of rare diseases is constantly evolving. 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".

Undiagnosed diseases may include unnamed groups of diseases with common features, diseases with well-described phenotypes, diseases with unknown molecular basis, or diseases caused by unknown non-genetic factors. Most of them are not yet fully understood in medicine and are a global health problem requiring international scientific and healthcare efforts.

From this perspective, patients who have the definite diagnosis and know which rare disease they have are truly the "lucky ones", as some people may never know what they have even if they do have it.

Prof. WU Zhiying said that clinically, there are many people with similar experiences as Mr. LIN's family, who have moved from place to place for medical treatment, but have never been able to identify the cause of their diseases. 

One of the goals of the International Rare Disease Research Consortium (IRDiRC) for 2017-2027 is that all suspected rare disease cases with precedent 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 Zhiying's opinion, the diagnosis of rare diseases is not the most difficult part, but the real difficulty lies in the treatment.

Less than 5% of the total 7,000+ known rare diseases have effective treatments, and only about 60% 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 harsh reality, I hope patients will not lose faith." Prof. WU Zhiying 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."


Author: LI JING | Reviewer: LI JING | Editor: LI JING | Source: DUSHI KUAIBAO | Date:2021-10-11 | Views: