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Sticks and stones easily break these bones

Published: 21/11/2009 05:00

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Dang Ngoc Phuong looks strong and healthy playing with his friends in front of Phu Do Pagoda in Ha Noi’s Tu Liem District. The Buddhist monks are teaching him the art of tailoring.

But few people know that the young teenager has had a bone weakening disease known as osteogenesis imperfecta, or brittle bone disease, since childhood.

Phuong, 16, was born into a poor family in the northern province of Hung Yen’s, Van Lam District. At the age of three, his right leg was broken and, since then, both legs have been several times, said his mother, Nguyen Thi Phuong. “My only son’s legs have been broken again and again. Although very poor, we took him to the national paediatrics hospital and found out he had a bone weakening disease,” she said.

“It shocked us very much. But despite the hard time, we take turns to carry him to school. No friends dare touch him because his bones are so brittle,” said his mother.

Her son added that he sought his pleasure in books and stories. “I like to play with my friends very much, but I don’t dare to join them.”

However, he had to stop going to school in 2003 when his father died of cancer. “I cry a lot,” he said. “When waking up in middle of the night, I often see my mother crying too. I wish to learn a trade that will help to help my mother.

“When the doctor said my bones were as brittle as glass, I thought my future would be very dark, but then I know that many children with this bone disease are still alive. It increases my hope.”

Phuong’s dream came true last year when he was adopted by monks and nuns at Phu Do Pagoda. There he met many other kids facing similar disadvantages.

“The monks and nuns feed us and teach us about tailoring,” said Phuong. One nun said that despite bearing a heavy handicap, Phuong was learning the trade well and was friendly to people around him. She said he bore the pain well and was trying hard to become a good tailor.

Another person with the debilitating disease is Nguyen Thi Huyen, 17 year-old, from Phu Tho.

“I did not think my life would last long as my legs and hands had been broken almost a dozen times,” she said. “Then the herbalist association in my village gave me a chance to learn traditional medicine. I knew nothing about it and initially it was difficult.

“But thanks to the herbalists’ devotion, I learned step- -by-step and now know how to use many herbs. I can write out a prescription and make it up. Many people with different ailments come up to me to ask for my help.”

Huyen said she was happy because her dream of becoming a useful person had come true.

Dr Nguyen Thi Hoan of the National Paediatrics Hospital said there were no official reports on how many Vietnamese had the bone disease, but there was no effective treatment.

Inherited

According to the Medical Review Board run by About.com, a part of the New York Times Company, osteogenesis imperfecta is an inherited condition also known as brittle-bone disease. It is caused by an abnormality in connective tissue called type I collagen.

Type I collagen fibres are found in bones, tendons, the skin, and in the eyes. The disease, which is divided into four types, usually starts before birth or in infancy. It occurs in one in 30,000 to 70,000 live births, depending on the type.

Almost all individuals with it have fragile bones that fracture easily. The symptoms of each of the four types are:

t Type 1: The mildest and most common form of OI occurs in about 50 per cent of cases. Symptoms include blue colouring in the “whites” of the eyes, fractures that are common during infancy and decrease after puberty; easy bruising; and a high incidence of hearing loss.

t Type 2: The most severe form. Bone fractures are present before birth, often in the skull, long bones, or vertebrae; whites of the eyes are dark blue or grey; bones are malformed; lungs are underdeveloped. Babies born with Type II often die within weeks of birth due to heart and breathing problems.

t Type 3: Fifty per cent of cases have bone fractures before birth, the rest have fractures shortly after birth; there is a shortening of limbs and deformities; facial abnormalities; children and adults of short stature.

t Type 4: Bone fractures begin in infancy; children have difficulty growing.

Research has identified a Type 5 and Type 6 that are not due to problems with type I collagen. These types, first identified in 2006, are inherited differently to the other types.

Diagnosis of OI is based on finding several fractures in a youngster’s arms, ribs and legs, often with X-rays. Child abuse can also produce broken bones, but the way in which they break is usually different to OI. Milder forms of OI may not be diagnosed until children are older. Specific genetic testing is available for some forms of the disease.

There is no cure for OI, so treatment focuses on reducing the number and frequency of fractures. Parents need to learn how to handle, position and hold a child in a very gentle fashion. Supportive shoes with arch supports are important, and leg braces may be helpful for a child learning to walk.

Physical therapy can help keep joints mobile and strengthen muscles. In some cases bone surgery may be attempted, but this is difficult to accomplish because the bones are fragile. Research is being done to develop drugs to strengthen the bones.

Parents of a child with OI should receive genetic counselling if they want to have more children. Types I to six can be inherited through only one defective gene. Types seven and eight are inherited through two defective genes, one from each parent.

VietNamNet/VNS

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