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There are currently about 7,000 rare diseases in the world, affecting more than 300 million people. In Vietnam, there are about 100 rare diseases with about 6 million people suffering from them, of which 58% of rare diseases occur in children. Although these diseases have a very low incidence in the community, rare diseases pose a great challenge to medicine in diagnosis and treatment.
Rare and dangerous
Discovered to have high blood pressure at the age of 14 during a health check at school, patient D.Q. (in Nam Dinh) was taken by relatives to several hospitals for examination and treatment and was diagnosed with glomerulonephritis. The doctor prescribed medication to take at home but the condition did not improve.
While she was very worried about her child's health, D.Q. was involved in a traffic accident and was taken to the National Children's Hospital for emergency treatment. After examination, the doctors discovered that D.Q. had a fairly large tumor in both adrenal glands, 6x7cm in size.
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Doctors at the University of Medicine and Pharmacy Hospital in Ho Chi Minh City perform surgery on a child patient with a rare cardiac tumor. Photo: THANH SON |
Associate Professor, Dr. Vu Chi Dung, Director of the Center for Endocrinology - Metabolism - Genetics and Molecular Therapy, National Children's Hospital, shared that adrenal tumors are rare tumors, estimated to account for about 0.2% - 0.4% of 100,000 cases/year. For children, it is even rarer, accounting for only 10% of the total number of detected adrenal tumors, and bilateral tumors are extremely rare, accounting for only 10% of children with adrenal tumors.
Adults also suffer from rare diseases, making treatment very complicated. Doctors at K Hospital have just admitted a male patient (61 years old, from Phu Tho) with pain around the navel, pain in the lower ribs and digestive disorders.
Through ultrasound, this male patient had a large right kidney tumor and the biopsy showed renal cell carcinoma. In addition, during the preoperative cancer screening test, the doctors continued to discover that the patient had an additional tumor in the small intestine measuring 3x2cm causing intestinal obstruction with a diagnosis of small intestine lymphoma.
This is a very special and rare case where a patient has two separate cancers; if the patient is not detected early and treated promptly, the disease will progress very dangerously.
Meanwhile, doctors at Bach Mai Hospital's Pediatric Center have just saved the life of a 10-year-old patient (in Tuyen Quang) suffering from sepsis, septic shock, and progressive respiratory distress syndrome (ARDS) due to infection with the rare bacteria Chromobacterium violaceum.
Dr. Nguyen Thanh Nam, Director of the Pediatric Center, said that Chromobacterium violaceum bacteria are often distinguished from other bacteria in mud, especially Whitmore, very few cases have been reported in children. In medical literature, this bacteria often causes bone destruction, eats into muscle and skin tissues causing necrosis.
Difficult to diagnose and treat
According to the World Health Organization (WHO), a rare disease is a disease that occurs in 1/2,000 people. It is estimated that about 3.5%-6% of the world's population has a rare disease, equivalent to 300-450 million people. Currently, the world has identified about 7,000 rare diseases, of which 72-80% are caused by genetics, the rest are infections, allergies and autoimmune diseases.
Associate Professor, Dr. Luong Ngoc Khue, Director of the Department of Medical Examination and Treatment Management, Vice Chairman of the Advisory Council on Rare Disease Management in Vietnam, said that the country has currently identified about 100 rare diseases reported in the community, with an estimated 6 million people suffering from rare diseases in Vietnam.
Associate Professor, Dr. Vu Chi Dung informed that although rare diseases have a very low incidence in the community, they pose a big challenge in diagnosis and treatment because up to 80% of rare diseases are genetic diseases, meaning that the disease manifests throughout life even though the symptoms may not appear immediately.
Up to 58% of rare diseases occur in children and the National Children's Hospital alone is managing and treating about 17,400 pediatric patient records with various rare diseases. Of these, the main ones are various congenital metabolic disorders.
“The consequences of children with rare diseases can lead to death, mental and motor sequelae, however, if detected early, the possibility of saving the child's life is very high, and can even help the child develop completely normally,” Associate Professor, Dr. Vu Chi Dung advised.
According to him, diagnosing and treating the rarest diseases is difficult and time-consuming due to lack of information about rare diseases. Currently, only about 5% of rare diseases have specific treatments, but up to 9% of patients cannot access these specific treatments, so most people with rare diseases only receive supportive treatment for a very long time, even for life.
The Ministry of Health is developing a list of rare and unavailable drugs and proposing solutions and mechanisms for medical facilities to purchase and stockpile certain drugs. At the same time, the list of rare and unavailable drugs is regularly adjusted. Currently, this list has 214 drugs for the prevention, diagnosis and treatment of rare diseases and 229 unavailable drugs.
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