|A boy at the Wishbone Day event walk with his eyes covered to experience OI which may affect eyesight in some cases. [China Daily]|
A group of 300 people took part in a charity hiking event held on May 6 at Chaoyang Park in Beijing to celebrate Wishbone Day, an international awareness event to highlight osteogenesis imperfecta－a brittle bone disease known as "China doll syndrome".
The participants included 10 sufferers of the genetic condition, supporting members of the public, staff members from the China-Dolls Center for Rare Disorders, the organizers behind the event, as well as volunteers from its partner organizations.
The Beijing center, founded by patients with rare disorders in 2008, is a nonprofit organization that provides care and relief services to OI sufferers and people with other rare diseases.
The center estimates that there are 100,000 people in China affected by OI, one of the lesser-known congenital disorders, which is characterized by fragile bones that are prone to breaking.
Osteogenesis imperfecta is the result of a mutation error of a gene that is responsible for the body's production of collagen, a fibrous protein found in bones and other tissues.
"Collagen in the bones is like what reinforced concrete is to buildings. Without enough concrete, buildings can easily collapse," explains OI expert Wang Yanzhou, director of the pediatric orthopedics department of Shandong Provincial Hospital.
According to Wang, sufferers of the disorder are not only afflicted by the constant threat of multiple bone fractures, but they can also develop other medical issues, such as muscle weakness, hearing loss, fatigue, joint laxity, curved bones, curvature of the spine, blue sclera, brittle teeth and a shortened stature.
There are eight different types of osteogenesis imperfecta, and they range in the severity of their symptoms and the specific medical problems they can cause.
"People with the lightest symptoms may never experience a single bone fracture in their lifetime. They are just like normal people and may have no idea that they are OI sufferers. Some others can experience frequent bone fractures, even from the slightest amount of stress," he explains.
He adds that it's hard to estimate the exact number of sufferers of the disorder in China because some of them, especially those with lighter symptoms, are never accurately diagnosed.
Zhang Zhijun, a 19-year-old from Xinjiang Uygur autonomous region, completed the 5-kilometer hike on his wheelchair without assistance to mark Wishbone Day.
"We'd like to call for more attention from society, and also show that we are not as fragile as people imagine," says Zhang, who regularly exercises and often takes part in similar events.
As an OI patient, he has experienced more than 30 bone fractures over the years, with the earliest going back to when he was only one week old. Zhang wasn't able to travel to school because of the disease and received home tutoring instead.
According to Zhang, in his hometown of Karamay in the northwest of Xinjiang, local doctors had never encountered osteogenesis imperfecta before and even misdiagnosed it as chondropathy－a disease of the cartilage－in his early years.
"The doctors said there was little they could do and simply told me to stay in bed to avoid more bone fractures," Zhang says. "But that actually caused more problems, such as muscle atrophy, while worsening my symptoms of osteoporosis."
He was correctly diagnosed with osteogenesis imperfecta at a Beijing hospital at the age of 6, after suffering numerous bone fractures.
"It was very difficult to find any information, either about the disease, or about suitable hospitals," he recalls.
When he was about 12, Zhang and his family spent several months searching online before finally finding two hospitals, one in Tianjin and the other in Shenzhen, that were able to perform the correct kind of surgery.
He has undergone several bone surgery operations since, including a recent one to his leg after an accidental fall.
The surgery also cured his leg-length discrepancy caused by the genetic condition, and he is expected to be able to walk short distances with walking sticks after recovering fully from the operation. In recent years he has increased his rehabilitation training schedule on the advice of his doctors.
"I had heard about this disease before, but had no idea of what patients experienced from day to day. I also had some misconceptions about the disease due to exaggerated media reports. It has been a meaningful experience for me to take part in this activity and interact with fellow sufferers directly," says Xue Jia, a 48-year-old magazine editor who attended the Wishbone Day event.
According to Wang, people with osteogenesis imperfecta will be affected by the disease for the duration of their lives, and timely intervention and targeted therapies are essential ways to help sufferers maintain a higher quality of life.
Comprehensive treatments, including surgery for those with severe symptoms, medication to increase bone density and rehabilitation guidance, are offered to most OI patients.
Over the past few years, the China-Dolls center has been working on ways to better help children with OI receive proper treatment during the critical stages of the disease, while at the same time promoting awareness of the disease among doctors.
According to Sun Yue, director of the center, in the past only a few hospitals and doctors provided specialized treatment for OI patients, and usually the clinical departments tended to work separately.
"But OI is a relatively complicated disease, and it takes the cooperation of many departments－from orthopedics, internal medicine and rehabilitation to anesthesiology and otology－depending on the patient's particular case," explains Sun.
In recent years, the center has been working together with a number of hospitals and medical teams, many of them doctors who have been trained overseas, to provide timely and specialized treatment to OI patients around China.
Several times a year, the center assembles a team of experts from a number of different medical organizations and clinical branches to visit cities all over China to provide training to local doctors about the diagnosis and treatment of OI. It also works with medical organizations to provide free and specific treatment to around 40 local OI patients, as well as arranging follow-up checks.
Other efforts include closely observing international medical progress in controlling the disorder, and sharing it with doctors in China and the families of patients.
Their efforts have yielded positive results.
"Not only do more hospitals provide specialized treatment for OI, but more clinical departments are involved today," Sun says.
The center also provides government with data and research results jointly carried out with a number of universities, to advocate supporting policies on issues like helping children with the disease receive a proper education.
"Our hope is to help OI patients better integrate into society and live their lives with dignity," says Sun, adding that they try to establish a positive and objective image of the special group.
"We can only push forward medical treatment, social benefits, social integration and other aspects concerning OI patients when the public has a better understanding of this disease and this community," says Sun.
Research by the center has found that the majority of osteogenesis imperfecta sufferers in China still face huge challenges.
The rates of inappropriate diagnoses and treatment still remain high, and many patients, especially those in remote areas, rarely receive proper treatment due to financial difficulties－leading to persistently high rates of disability among sufferers. At the same time, knowledge about the disease remains limited among certain groups of doctors.
Zhang discovered the center while searching the internet and immediately sought their help.
"I was thrilled. Finally there were people who understood my situation and were able to talk to me about it," says Zhang, who now works as an intern at the center.
"I joined the team because I wanted to help people who have the same problem as me by sharing my own experiences and knowledge."
|Zhang Zhijun, a 19-year-old OI patient from Xinjiang Uygur autonomous region, receives help from China-Dolls Center for Rare Disorders, an NGO where he now works. [China Daily]|
(Source: China Daily)