The power of ‘blooming flowers in the desert’ of children with rare disease

At the rare disease festival at Children’s Hospital 1 on February 28, Thu and her younger brother Van Khoi brought a picture of a balloon to paint by himself to give to doctors. The letter suddenly weak at about 12 years old. Not long ago, Khoi also had similar symptoms, had to treat resuscitation, mechanical ventilation for a long time at Children’s Hospital 1, although before the health was completely normal.

Initially, the doctor did not find the disease. By the time of sending samples abroad to test, the two sisters were identified as one of the first cases of Vietnam with Pompe metabolic disorders. This is a genetic disease of rare neuromuscular disorders, causing the muscles to gradually be damaged, easily leading to disability and death. Doctors coordinate with many treatments, and send the dossier to the pharmaceutical company asking for a drug sponsorship regularly every two weeks, for hundreds of millions of dong per month.

The two sisters responded well with the drug, but the condition was worse, so they still had to use a wheelchair, and the letter could walk by themselves. The letter is in grade 12, and Khoi is in grade 10. The dream of being a doctor but health does not allow, Thu is trying to pass the pharmaceutical school to work in the health sector.

“When the two children discovered a rare disease, my husband and I were deadlocked, completely collapsed, thanks to the encouragement of the doctor and the support of the drug company, the children gradually recovered, we were given strength in this long battle,” said Thanh Binh, the mother of the two babies.

According to BS.CK2 Nguyen Thi Thanh Huong, Deputy Director cum Head of Neonatology Department 2 – Metabolism – Genetics, Children’s Hospital 1, the recovery of children with rare diseases such as Thu sisters, unconditional love of the family has helped doctors more determined to make efforts to the end, not allowed to give up, not to let go.

“The energy and intense vitality of children with rare diseases such as the blooming flowers in the barren desert silently spread the scent,” the doctor said.

According to Dr. Huong, previously rare disease is considered as “trash basket”, because the diseases happen quickly, quickly death without knowing the cause is called rare disease. At times, doctors only set goals on how to discover something, at least in genetics to advise the family not to give birth to similar children. Later, the goal is to treat children, help many children recover from the death gate, find joy in life.

For example, Mai Anh, 20 years old, from lying down for 6 months, 5 years ago, thanks to the finding of metabolic disorders, responding to treatment, has gradually recovered. About three years now, Mai Anh can move around the house when someone supports and takes care of personal activities. Interested in the video tutorials to make zinc velvet flowers, she tinkered to order materials online and then came up with the idea, made the colorful flower baskets, brought from Dong Thap to the hospital to the doctors.

Leaders of Children’s Hospital 1 said that there are still rare ideas because of the high but low -effective treatment costs, which need to prioritize resources for other diseases. “I hope that children have rare disease for treatment, not discrimination, because they are an indispensable piece in the picture with children with other diseases,” the doctor said.

Currently, Children’s Hospital 1 manages about 500 children with rare disease from many provinces in the South, such as metabolic disorders, musculoskeletal atrophy, neuromuscular disease … In addition to the difficulty of diagnosing the disease, the biggest barrier is the cost of treatment, most of the drugs are very expensive, need to join hands not only of the community, health systems but also policies for patients, like many countries in the world.

Each year, the hospital receives about 40 billion dong to treat children with rare disease. There are phases, children are funded with drugs from VND 50-80 billion for a period of treatment. As a boy with a lucky spinal muscle atrophy “win” Zolgensma bottle – cost about 50 billion at the end of 2023, then recover spectacularly, can exercise, travel like normal children.

“About 70-80% of rare diseases related to genetics, gene mutation,” the doctor analyzed. The only way to prevent the disease is in the family if someone has a rare disease, screening to see if parents have a mutant gene. That is why many rare diseases are included in the list of newborn screening screening, early detection from the time the child has not broken down symptoms for timely intervention.

Assoc.Prof.Dr. Nguyen Thanh Hung, Director of Children’s Hospital 1, said that it is cooperating with the Pediatric Obstetrics and Genet Institutes, in order to screen early from birth, there is the best way to take care of the child’s treatment.

Last month, the Ministry of Health issued a decision to set up a Steering Committee to strengthen the rare disease management in Vietnam, including leading experts responsible for coordinating management, supervision and organization of the Ministry’s guidelines, policies, solutions and plans on rare disease management. Earlier this year, the Ministry of Health allowed 62 rare diseases and dangerous diseases to be transferred directly to intensive medical examination and treatment facilities, without referral and still enjoying 100%health insurance.

Rare disease is a great burden on the global economy and health, with more than 6,000 diseases that have been identified. It is estimated that more than 300 million people, equivalent to 3.5-5.9% of the world’s population, are living with these diseases. In addition to genetic causes, rare diseases are also the result of the infection process, including causes from bacteria, viruses, allergies and the environment or rare cancer. About 70% of rare diseases due to genetic onset at the stage of young children.

Although medicine has made many progress, the diagnosis of the average rare disease lasts from 4 to 5 years. During that time, many patients suffered misunderstandings, wrong diagnosis or unable to access the right treatment expert. Most rare diseases currently have no treatment. Many patients must depend on the control of symptoms, medical interventions or specialized care to improve the quality of life.