China Daily Global Edition (USA)
CHANGING PERCEPTIONS Zhang Zefeng
Ahead of the International Day of Persons with Disabilities, talks to four young people with uncommon afflictions, who are working to raise public awareness of rare genetic diseases.
Growing up with congenital heart disease and epilepsy, Pan Longfei had a fairly eventful childhood. Seeing doctors and taking medication were an indispensable part of his early life, and he was physically the smallest and weakest among his peers. Schools saw him as a risk and parents thought his condition was contagious, so Pan was elbowed out of schools about five times. It took him 10 years to complete primary school.
Pan was also misdiagnosed with leukemia. Even when his peers started their journey to adulthood, he still hadn’t started puberty, which brought him sneers and humiliation.
“I always perceived myself as an alien,” says the now 28-year-old.
Even today, he still has social phobia.
Until he was 23, no one realized that Pan had Kallmann syndrome, a rare genetic hormonal disorder that causes delayed puberty and infertility.
Pan was thrilled to receive that diagnosis as the doctor said hormone replacement treatment is generally effective. However, for some others the diagnosis leads to despair and heartbreak.
“Many patients try to commit suicide as they believe it’s incurable and they will need lifelong medical treatment,” Pan says.
In 2014 Pan set up an online group, Kallmann, offering patients health consults, sex education and networking activities.
Over the years, the group has morphed from a small group to a community of more than 2,800 members.
To inspire the public to learn about Kallmann syndrome and other rare diseases, Pan began walking from place to place. Last year, he covered nearly 500 kilometers walking from the Inner Mongolia autonomous region to Beijing.
In China, there are more than 140 rare diseases affecting 16.8 million people, of which 80 percent are genetic, according to Fudan University Research Center for Birth Defects. They often appear early in life and may be present throughout a person’s life.
Dec 3 is the International Day of Persons with Disabilities.
Common language
Cui Ying is fragile. She had her first bone fracture when she was 1 year old, and since then she has broken her bones again and again.
At the age of 4, Cui was diagnosed with osteogenesis imperfecta, more commonly known as brittle bone disease.
“My bones are susceptible to fractures,” she says. “I have to be very careful.”
From the age of 6, Cui wasn’t able to walk anymore. As a result, she dropped out of school and was taught to read and write at home by her parents. At 16, she got the opportunity to be home-schooled in primary and middle school courses for four years, taught by visiting teachers.
In a report released by ChinaDolls Center for Rare Disorders, there are about 100,000 people in the country like Cui with brittle bone disease. About 70 percent of them live in less-privileged rural areas.
Attending a charity event in 2014 changed Cui’s life. She composed a song with a friend and performed there.
As Cui enjoyed the process of collaborating and playing music, she proposed starting a band consisting of members who all have rare diseases or disabilities.
The band, 8772, made its debut in Beijing on Oct 31, 2015. The band writes original songs to depict the life of people with rare diseases. Cui is the guitarist and lead singer.
One of the band’s popular songs, Yu Sheng (Ode to Life) was written by Bao Zhenni, a 16-year-old girl who suffers from spinal muscular atrophy, a rare disease that causes muscle wastage.
Bao is paralyzed and can use only one hand, but her passion in music pushes her to write songs on a smartphone.
“She is very talented. Her lyrics are both well-structured and philosophical,” says Cui, 29. “It’s hard to believe the songs are written by such a young girl.”
In the past two years, 8772 has performed at music festivals, on TV shows and at charity events. The band is expected to release its first album early next year.
“Music is a language that can be understood by everyone. When people hear our songs, they also get to know the real us,” Cui says.
Digital documentation
People who have rare diseases often require assistance from family or friends in their daily lives.
For Yan Xiao, 24, shopping with friends was always a physically demanding task. It could take her a few days to recover from a short bike ride. At school, she spontaneously fell asleep, despite the fact she was interested in her classes.
In 2012, Yan was diagnosed with myasthenia gravis, a type of autoimmune disorder that causes intermittent muscle weakness, fatigue and sometimes difficulty maintaining a steady gaze.
“I have limited energy and always suffer from fatigue,” she says. “It’s a type of incomprehensible fatigue. You feel like you are going to die if you don’t take some rest.”
Yan majored in sociology in college. She understands the importance of raising public awareness about rare diseases.
“Many social issues, including health problems, are derived from the inadequate understanding of certain groups,” she says. “I wanted to do something to enhance public awareness.”
With her younger cousin, Wang Sai, who studied video production, Yan makes short movies and documentaries about rare diseases.
“Yan gets tired easily, and I can offer her some help. What she wants to do is also very meaningful,” says Wang, a 23-year-old graduate from the Nanjing Institute of Visual Arts.
In 2015, when they heard about hemophilia patients having difficulty receiving education and getting jobs, they made a short film, Interviewee, to raise public awareness. They later made another one, The Moon Represents My Heart, to address the love and marriage issues among albinism patients.
In the past two years, despite facing physical, technical and financial challenges, Yan and Wang have made 17 short movies and documentaries covering diseases such as brittle bone disease and Kallmann syndrome.
Yan says she has also entered a more diverse world after being diagnosed with myasthenia gravis. Through filming, she has gotten to know the marginal groups in society, which includes people with disabilities, and Yan and her cousin plan to document people beyond those with rare diseases.
Sense of responsibility
Being a social entrepreneur requires components such as funding, experience, social networking and resilience, which is already hard enough for regular people. Despite their physical limitations and other obstacles, there is an increasing number of people taking such roles. Taylor Li is one of them.
Since Li’s early memory, she always had problems with staying awake. She would fall asleep during her classes, on buses and even while riding a motorbike.
Li could fall asleep even while driving on a highway. She took many measures including slapping herself, energy drinks, speaking to herself and listening to loud music. None of them worked.
On her 21st birthday, Li was diagnosed with narcolepsy, a primary hypersomnia condition with frequent daily sleep attacks, hallucinations and temporary muscle weakness brought on by strong emotions.
This rare disease has gained some public understanding in the United States, but in China, few people know about it.
“When we talk about it, they think we are just joking or trying to fool them, which makes me feel helpless,” says the 24-year-old who studied business administration at the University of Southern California.
The Chinese Sleep Research Society estimates there are probably about 700,000 people who suffer from narcolepsy in the country, but less than 5,000 have been diagnosed.
In 2016, Li launched a public campaign, I Invite You to Sleep, with an aim to find more narcolepsy patients, help them understand the disease and raise public awareness about it. The campaign went viral with both media attention and public figure endorsement.
This year, she joined ChinaNext Foundation and launched the China Narcolepsy Project, the first NGO project on narcolepsy in China intending to offer consulting and form a community for patients.
Building such community has not been easy. Li was questioned by the patients’ parents, lacked funding, and had difficulty getting resources and making strategies. She even had trouble finding the right helper.
“I was overly optimistic about building the community. It’s proving to be a long, slow process,” she says.
From July to September, Li visited 16 Chinese cities to meet narcolepsy patients and talk with them about the challenges they face.
Li plans to appear on TV shows and make online shows to raise public awareness while continuing to build the community.
“What motivated me was my own experience. I suffer from it every single day,” she says.
Li is also driven by a sense of responsibility. “I have already started the program; it would be irresponsible if I quit now.”
Music is a language that can be understood by everyone. When people hear our songs, they also get to know the real us.”
Cui Ying, a 29-year-old singer and guitar player who founded a band in 2015 to depict the life of people with rare diseases