Zhou Yingchun said that although his daughter wears pants and long-sleeved shirts every day, her skin frequently blisters. Whenever a blister develops, it must be punctured and the wound has to be bandaged.
“The skin is like liquid, rather than being solid,” said the father, who four years ago set up the Shanghai Debra Butterfly Babies Care Center, which now has more than 800 patients from all over the country with Epidermolysis bullosa.
Zhou Yingchun said soft food must be prepared for his daughter as the mucous membrane in her mouth is fragile. Because of the tightened skin, patients’ hands form fists. The average life span for those with this disease is around 40.
Velo Zou was born in Shanghai in November 2014. He was diagnosed with spinal muscular atrophy, also known as SMA, a genetic disorder that affects muscle control, and which afflicts 30,000 to 50,000 people in China.
When Velo was 9 months old, doctors predicted that he could live for as long as two years. About 95 percent of SMA patients die 18 months after birth.
Velo, which means “bicycle” in French, has a 6-year-old sister, Giro, which means “circle” in Italian. Their father, Zou Cheng, is a cycling enthusiast.
Velo’s mother, Zhang Ying, said they provide the best care at home for the boy, who cannot sit by himself and has difficulty in coughing, holding a pen and going to the toilet.
Respiratory diseases can be fatal for such children, as they cannot cough to clear their throats. Velo’s parents bought a machine to help him cough that cost 40,000 yuan ($5,835). He also has a tailor-made wheelchair and a standing frame, which helps him to practice standing to avoid bone deformity.
The proportion of SMA patients who use such supportive devices is very low, said Wang Yi, a pediatric neurologist at the Children’s Hospital of Fudan University in Shanghai.
Only 2 percent of these patients use machines to help them cough, and 34 percent have never received rehabilitation training, according to a survey this year of 821 diagnosed patients nationwide, Wang said.
Velo’s mother cuts his food into small pieces to help him to swallow it and uses medicine to help him go to the toilet.
Velo and each member of his family is injected with influenza vaccine annually to minimize the chance of him becoming infected with respiratory diseases.
Patient organizations, or communities, are another approach for those with rare diseases and their families to enable them to gain a more positive attitude and practical experience to better live with such diseases and improve their quality of life.
Newly diagnosed patients and their families can quickly obtain information on medication, doctors and family care related to the disease after joining these organizations, said Kevin Huang Rufang, founder and director of the Chinese Organization for Rare Disorders. Huang said there are more than 80 such organizations nationwide.
Zhou Yingchun said he started to translate foreign documents about skin care for patients with Epidermolysis bullosa in 2006, before many doctors were familiar with the disease. The patients also asked for discounts from pharmaceutical companies for surgical dressings to protect their skin when it blistered, he said.
Doctors said they had witnessed the growth of patient communities in recent years. The communities were initially formed to exchange experiences, but later took part in discussions and international seminars with doctors and medical companies. They also sought attention and help from the media, social organizations and government departments, and finally promoted the progress made in the treatment of rare diseases in China.
Li Wei, vice-president of medical affairs at Shanghai Roche Pharmaceuticals, said, “The Phase II clinical trial of a medicine for SMA patients by our company started on the Chinese mainland in April, and the patient community — the Mei’er Advocacy and Support Center for SMA — did a lot, including seeking enough participants for the trial.”
Medical experts said they regarded the country’s first rare disease list, which contained 121 such diseases and was drawn up in May, as a milestone in this area.
Ding said: “The list included diseases for which therapies are available in the country and for treatments that are still being developed. It will certainly accelerate work on the diseases and relevant therapies.”
Peter Fang, head of Asia Pacific and acting China general manager at Shire Pharmaceutical, a company headquartered in Ireland that caters to patients with rare diseases and specialized conditions, said: “With such guidelines, there are opportunities to bring to China rare disease therapies at the same time as the United States and Europe. In the past, Chinese patients had to wait eight to 10 years after a drug won approval in the US.”
Li Dingguo, a member of the Expert Committee of Diagnosis, Treatment and Security of Rare Diseases with the National Health Commission, said only 15 of the 101 therapies for rare diseases patients marketed in the US are available on the mainland. Li is also an honorary professor with Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine.
With such guidelines, there are opportunities to bring to China rare disease therapies at the same time as the United States and Europe.”