A genetic defect plagues two generations of one family, leaving a young boy to face a crippling disease despite medical reassurances to the contrary,Yao Lan reports

When Chen went to Shanghai Children's Hospital for her elder son's treatment, doctors there told her that they could find out if the male fetus was carrying the defective chromosome.

Chen Minjuan with her husband Shi Minzheng (left) at Jing'an District People's Court on Monday.

CHEN Minjuan thought her life was over when she heard that her young son had Duchenne Muscular Dystrophy (DMD) - the third family member to be diagnosed with the fatal disease.

"I thought of committing suicide when I got the news," said the 47-year-old woman. "My life lost all meaning."

X-chromosome

DMD is the most common form of Muscular Dystrophy - an inherited disease usually affecting boys.

DMD is an X-linked recessive inherited disease, which is passed on from the mother - the carrier - through her X-chromosome. A female child who inherits this defective chromosome has a very low probability of being affected by the disease, as females have a second X-chromosome, which is able to control the production of dystrophin. However, the girl will become a carrier.

The male child of a carrier has a 50 per cent chance of being struck with the ailment. Boys have only one X-chromosome, therefore they are unable to compensate for the defect. These victims, who suffer a gradual wasting of muscle tissue, rarely survive beyond their late 20s.

Shanghai Children's Hospital on Beijing Xilu is facing a suit for over a million yuan in compensation for a wrong prediction.

Family misfortunes

Misfortune hit Chen's life for the first time when she was a 13-year-old girl.

One morning in 1967, her parents took the second of her three younger brothers to see a doctor because the 9-year-old boy always felt weak and would fall without reason.

"They did not return until evening," she recalled. "Several people accompanied them back because my mother had fainted."

Although her father did not want to tell his eldest child the truth, he finally capitulated to his daughter's pleas. This was the first time, Chen had heard of DMD, a disease which eventually killed her brother. Doctors told the family that without any treatment, the boy would only survive two years.

"But my family still tried to prolong his life by seeing doctors," she said. "They went to almost every hospital in the city."

She can remember her family's belongings slowly disappearing. One by one her parents sold all their possessions.

In the early 70s, the boy began to take a traditional Chinese medicine, which cost about 2.8 yuan ($0.3) per day. However, her mother's monthly income was only about 50 yuan ($6) at that time.

"All we could afford to eat was soup and flour dumplings," she said.

Chen witnessed her brother become weaker and weaker, sinking into a wheelchair, and finally passing away on March 7, 1983 at the age of 25.

The family did not pay off all the debts until five years later.

What Chen remembers most was the warning of a doctor named Mao.

"He warned me that I could only give birth to girls, because boys may inherit the disease," she said.

Tragedy strikes twice

Chen first got pregnant in 1985. When she discovered that the baby was a boy, she decided to have an abortion for fear that her son would be afflicted by DMD. However, the idea met with opposition from her husband, so she gambled and gave birth to her son.

Chen's first marriage ended in 1986, and her ex-husband got custody of the son. However, the boy was soon diagnosed with the disease.

"Now, the elder son has to rely on wheelchairs," she said.

In 1990, Chen remarried and once again became pregnant.

"My husband and I had decided that we would never gave birth to a son," she said. However, after a medical examination, she was told that she was having another boy.

Chen could not believe the report, and took five more examinations, but they all concluded the same. She was pregnant with a son. "It was hopeless, I was forced to choose abortion," she said.

When Chen went to Shanghai Children's Hospital for her elder son's treatment, doctors there told her that they could find out if the male fetus was carrying the defective chromosome.

"They told me the examination would be absolutely exact," she said.

Chen underwent an examination with the results handled by the hospital affiliated with Xuzhou Medical Institute in Xuzhou, Jiangsu Province, and Shanghai Children's Hospital.

Three weeks later, reports showed that her son would be healthy. The couple relaxed and decided to have the child. They gave birth to a son in 1991.

To celebrate, the parents named the boy Shi Xinlei. "Xinlei is similar in pronunciation to 'xinlai', which means in Chinese that it took us great efforts to have a healthy baby," Chen said.

However, their happiness came to an end in 2000, when their son was diagnosed with DMD at the age of 9.

Lawsuit

The family's respect for the medical profession immediately evaporated.

Feeling desperate and cheated, Chen and her husband sued the two hospitals, asking for 1,004,000 yuan ($120,964) in compensation for medical expenses.

The first hearing was held at Jing'an District People's Court Monday, where lawyers sought to establish the facts.

Chen insists that the hospitals shoulder all responsibility. "They ensured me that they had enough experience, and the report showed all was OK," she said. "How could I be so stupid to have a son after I saw my brother die and my elder son suffer?"

However, the hospitals did not do anything wrong.

"Blind areas also exist in the field of medicine," said Tong Jianyun, a lawyer representing Shanghai Children's Hospital. "Although the report was OK, no one could say the boy did not carry DMD."

Now, the boy can not ascend steps although he can still walk. "He was an excellent student at school," his mother said. "He felt sorry that he could not help to fly the national flag any longer because it was an honour for students."

"He is too young," she said. "What I can do is to get a fair answer for the poor boy."