Rare diseases: Difficulties and challenges

SGGP 11/11/2023 06:41

Globally , there are approximately 7,000 rare diseases affecting more than 300 million people. In Vietnam, around 100 rare diseases have been recorded, affecting approximately 6 million people, with up to 58% of these rare diseases occurring in children. Although these diseases have very low incidence rates in the community, they pose a significant challenge to medicine in terms of diagnosis and treatment.

Rare and dangerous

Diagnosed with hypertension at the age of 14 during a school health check-up, patient D.Q. (from Nam Dinh ) was taken by relatives to several hospitals for examination and treatment. He was diagnosed with glomerulonephritis and prescribed medication to take at home, but his condition did not improve.

While already very worried about their child's health, little D.Q. was involved in a traffic accident and rushed to the National Children's Hospital for emergency treatment. After examination, doctors discovered that D.Q. had a fairly large tumor in both adrenal glands, measuring 6x7cm.

Doctors at the University Medical Center of Ho Chi Minh City perform surgery on a child with a rare myocardial tumor. Photo: THANH SON

Associate Professor Dr. Vu Chi Dung, Director of the Center for Endocrinology - Metabolism - Genetics and Molecular Therapy at the National Children's Hospital, shared that adrenal tumors are rare, estimated to account for about 0.2%-0.4% of 100,000 cases per year. They are even rarer in children, accounting for only 10% of all detected adrenal tumor cases, and bilateral tumors are extremely rare, accounting for only 10% of children with adrenal tumors.

Adults also suffer from this rare disease, making treatment very complicated. Doctors at K Hospital recently admitted a 61-year-old male patient from Phu Tho province with symptoms of pain around the navel, lower rib pain, and digestive disorders.

An ultrasound revealed a large tumor in the right kidney, and a biopsy confirmed renal cell carcinoma. Furthermore, during pre-operative cancer screening, doctors discovered an additional tumor in the small intestine measuring 3x2cm, causing intestinal obstruction, which was diagnosed as small bowel lymphoma.

This is a very special and rare case where a patient has two separate cancers; if the patient is not diagnosed early and treated promptly, the disease will progress very dangerously.

Meanwhile, doctors at the Pediatric Center of Bach Mai Hospital have just saved the life of a 10-year-old child (from Tuyen Quang) suffering from sepsis, septic shock, and progressive respiratory distress syndrome (ARDS) due to infection with the rare bacterium Chromobacterium violaceum.

Dr. Nguyen Thanh Nam, Director of the Pediatric Center, said that Chromobacterium violaceum bacteria are usually distinguished from other bacteria in soil, especially Whitmore's disease, which is rarely reported in children. In medical literature, this bacterium usually causes bone destruction, invading muscle and skin tissues causing necrosis.

Difficult to diagnose and treat.

According to the World Health Organization (WHO), rare diseases are those occurring in 1 in 2,000 people. It is estimated that approximately 3.5%-6% of the world's population suffers from a rare disease, equivalent to 300-450 million people. Currently, around 7,000 rare diseases have been identified worldwide, with 72-80% of them being caused by genetics, while the remainder are due to infections, allergies, and autoimmune diseases.

Associate Professor Dr. Luong Ngoc Khue, Director of the Department of Medical Examination and Treatment Management and Vice Chairman of the Advisory Council on Rare Disease Management in Vietnam, stated that approximately 100 rare diseases have been reported in the community nationwide, with an estimated 6 million people suffering from rare diseases in Vietnam.

Associate Professor Vu Chi Dung informed that although rare diseases have a very low incidence rate in the community, they pose a major challenge in diagnosis and treatment because up to 80% of rare diseases are genetic, meaning the disease manifests throughout life even if symptoms may not appear immediately.

Up to 58% of rare diseases occur in children, and at the National Children's Hospital alone, approximately 17,400 patient records for various rare diseases are being managed and treated. The majority of these are various congenital metabolic disorders.

"The consequences for children with rare diseases can lead to death and mental and motor disabilities; however, if detected early, the chances of saving the child's life are very high, and it may 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 a lack of information about these diseases. Currently, only about 5% of rare diseases have specific treatments, but up to 9% of patients cannot access these specific drugs, 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 healthcare facilities to procure and stockpile certain types of drugs. Simultaneously, the list of rare and unavailable drugs will be regularly updated. Currently, this list includes 214 drugs for the prevention, diagnosis, and treatment of rare diseases and 229 drugs that are not readily available.

Source: https://www.sggp.org.vn/benh-hiem-nan-giai-va-thach-thuc-post713638.html