Caring out of the ordinary

A volunteer playing with children suffering from osteogenesis imperfecta at an event organized by the Beijing-based China-Dolls Center for Rare Disorders. ZHU XINGXIN / CHINA DAILY

Understanding, family support remain crucial for Chinese children suffering from rare diseases.

It has been three years, but Li Jia still remembers the day when she looked into her daughter's eyes and saw nothing.

"Her eyes wandered past me to focus, in an unfathomable gaze, on the motionless tree leaves outside our apartment window. There was no flame of excitement, no glint of curiosity, not even a faint glimmer of interest inside her dewy eyes, only the blurry outlines of the tree," recalled the mother, in a voice as calming as it was emotionally disturbing.

"For a brief moment, I felt my heart had been hollowed out. I was terrified."

What soon came after that fateful day was a discovery that plunged the whole family into turbulent waters. Li's daughter, An An, then merely 16 months old, was diagnosed with Rett syndrome, a sporadic neurological disorder that strikes one in every 15,000 people, predominantly female.

In its early stages, the syndrome's symptoms are similar to that of autism. Although patients gradually open up, in most cases, they will be unable to use their hands or feet, or develop any verbal skills, as a direct result of the brain damage. The majority fail to live beyond their 30s.

"It was excruciatingly painful - I cried my eyes out. But we persisted, living on day by day with all the mishaps and mayhem of the disease while hoping for the best," said the 36-year-old mother.

"In retrospect, any possible road leading to the future begins with acceptance; to accept the illness for what it really is. For a child patient, that acceptance starts to build with his or her family."

Yet that process could take years, said Wei Min, a leading pediatrician with Peking Union Medical College Hospital in Beijing.

"Upon being told the bad news, some parents just collapsed, while others sat there, dumbfounded, seeing and hearing no more. But all would eventually manage a reprieve from the initial shock to ask the same question: 'How could this be true?' And you know instinctively that no amount of medical knowledge would help here," said Wei, 69.

"Quite often, such denials are aided by the fact that rare diseases, by definition, are diseases that hit only a tiny segment of the population."

Rough figures

In the United States, the Rare Diseases Act of 2002 defines the term as any disease or condition that affects fewer than 200,000 people in the country, or about one in 1,500 people. In Japan, that ratio is set at about one in 2,500 people.

However, ratio alone can give the wrong impression, and in a country as populous as China, "tiny" means more than 15 million people, Wei said.

"The 15 million figure often cited for China is a rough estimate at best, since we have no official definition for 'rare diseases' and have conducted no comprehensive census on the number of sufferers. Among them, nearly 70 percent are children."

Wang Yi'ou is the founder of the Beijing-based NGO China-Dolls Center For Rare Disorders. After suffering repeated fractures since 1, Wang was diagnosed with osteogenesis imperfecta, also known as brittle bone disease, at the age of 16. Hitting one per 20,000 live births, the congenital disease gives its victims defective connective tissue, rendering them petite "China dolls" with stunted growth and fragile bones.

"There was one time two years ago, when we sent a copy of our monthly magazine to an address we believed to have belonged to a fellow patient. A few days later, we got a reply, in the form of a mail parcel, which contained a pair of scissors and a scribbling of words. It basically read: 'Dare to send me another copy and I'll commit suicide in front of you'," said Wang, 32.

"A phone call soon followed, made by a woman who admitted to subscribing our magazine with the address. It was not meant for her son, who had brittle bone disease, but for herself and her husband, the heartbroken mother told us."

"She said, 'It kills my son to be reminded that he's a rare-disease patient. I don't know how he found the magazine, but please, don't send it, never again!'" Wang said.

"Telling from my own experience, the boy's denial of his own condition, and by extension himself, has stemmed in large part from the evasiveness adopted by his entire family against the disease. What was meant to be protection ended up to be harm."