Glass bone disease

Glass bones are hereditary diseases, making the bones thin, brittle, and easily broken. People with this disease can get their hands and feet broken at any time.

Like many other women, Ms. Nguyen Thi Nguyet (Phuc Tho commune - Ha Tay) hopes to have a family and children who are obedient and healthy. But misfortune came when she gave birth to the second child: As soon as the cry was born, the child could not move. Ms. Nguyet was shocked when she knew the whole femur, her bones were broken from inside.

What is glass bone?

Glass bone is caused by the collagen fibers of the bone are damaged and become brittle, osteoporosis, easy to fracture even when encountering very slight collisions, coughing, sneezing . even when there is no collision. Glass bone disease has genetic predisposition, regardless of race or gender.

Genetic diseases

The doctor concluded that her child had glass bone disease, a disease that made the bones thin, brittle and easily broken. The child will have to live with this disease until the end of his life.

In the same patient's ward with Nguyet's child, there was N.TN 23 days old, after the bone was born, he suffered severe damage to deform the chest, limbs and spine. Family history, sister N died at 47 days of age due to glass bone disease.

Another victim of glass bone disease we had the opportunity to contact Mr. Hoang Van Thao (42 years old in Dai Dong village - Thuy Phuong commune - Tu Liem district - Hanoi). Mr. Thao got sick from the womb. That day, no one knew what illness he only knew he was a handicapped person. The leg bones were thin and thin, so thin that Thao almost had no legs. His means of transport were two child seats tied to his shin which were shortened.

Happiness and happiness were smiling when Mr. Thao met the sympathetic woman and married. The couple waited for the day the child was born. Mr. Thao himself dreamed of a day when he grew up, replaced him to work, take care of his family, do simple things but because he was handicapped he could not do it.

However, the newly born child brought the germ of his father's illness. He cried day and night because of pain. The head was getting bigger but the limbs were curled up and unable to walk. So far, Nguyen Huu Chinh (son of Thao), 24 months old, has had eight fractures.

"My hands and feet are always broken. When I touch, I don't have any cause, break it myself. I have to go to the hospital half a month," said Thao.

Now it is his son's turn to live "glass life" like his father. About 60 patients are currently treating glass bone disease in Endocrinology - Metabolism - Genetics, National Pediatric Hospital. Most of them come from remote areas. Their lives are the constant days of treatment in hospitals. Many families are almost exhausted.

There is no specific cure

" Glass bone disease , also called imperfect bone disease, crunchy bone disease , mainly caused by genetic predisposition or diving from the parent. There is currently no specific treatment for bone marrow disease. Many therapies such as gene therapy, bone marrow transplantation have been carried out and initially provided satisfactory results but not yet widely applied in clinical practice " - Dr. Vu Chi Dung, Deputy Head Department of Endocrinology - Metabolism - Genetics, National Hospital (Hospital) said.

"Classical medicines like vitamin D, calcium, etc. are not effective," Dr Dung stressed.

Since 2004, the Department of Endocrinology - Metabolism - Genetics has used bisphosphonate pamidronate to treat patients with glass bone disease. This composition is initially transmitted through the vein for positive results such as reducing bone pain, reducing sweating, increasing bone density, reducing the number of fractures, significantly reducing bone deformity in patients.

However, the biggest difficulty for patients with glass bones today is the cost of this drug is too expensive. Approximately 1 to 1.5 million VND for a single infusion for young children, while the treatment period is frequent and long-term.

Moreover, bisphosphnate pamidronate is not included in the hospital's list of medicines, so patients still have to buy at the price of the drug.

Many children with this disease are children of disadvantaged families. Without the help of society, they will not be eligible to pursue treatment."We dream of being treated with insurance cards. Strictly, this is a genetic disease . " Mr. Thao was sad. Thao's wish is also the dream of many families whose relatives have suffered from this evil disease even though it is only a distant dream.

Currently, the National Hospital of Pediatrics is making an effort to ask the Ministry of Health to approve the introduction of bisphosphonate pamidronate to the hospital's list of curative medicines to reduce the cost burden for children who are treating this disease.

The disease has different rates in each country but the overall estimate is 1 / 10,000.Characteristics of the disease are lesions not only in the bones but also in the skin, ligaments, sclera of the eyes and teeth such as spontaneous bone fractures, bone deformities, dwarfism, abnormalities of the teeth, hearing loss, and ocular sclera blue.

"This is an inherited disease, so the prevention by genetic counseling is the top priority in developed countries. In the context of Vietnam, the most common is the method of prenatal diagnosis and maternity ultrasound to detect fetal abnormalities such as abnormal length of the limb from the week of pregnancy from 5 to 16 " - Dr. Dung recommends.