Raising awareness of the disease and providing guidance on home care for children with spinal muscular atrophy (SMA)

On June 10, 2023, in Ho Chi Minh City, the Vietnam Children's Fund in collaboration with Novartis Vietnam Company Limited organized a communityeducation training program on awareness of spinal muscular atrophy (SMA) in children and instructions on home care for children with spinal muscular atrophy.

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This is one of the contents of the project Raising awareness and strengthening support for children with spinal muscular atrophy in Vietnam (SMA project "Supporting children with spinal muscular atrophy") committed by Novartis Vietnam Co., Ltd. through the Vietnam Children's Fund from December 2022.

At the training program, experts pointed out the signs and natural progression of spinal muscular atrophy (SMA) in children, provided instructions on how to do exercise for children with spinal muscular atrophy (SMA) at home, as well as nutritional regimen for children with spinal muscular atrophy (SMA). There were also exchanges and discussions between students and teaching experts at the conference.

As shared by Dr. Nguyen Le Trung Hieu, Head of the Department of Pediatric Neurology - Children's Hospital 2 on the sidelines of this event, spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease caused by a genetic defect that occurs with a frequency of about 1:11,000 births and is the leading genetic cause of death in infants1,2. The disease is divided into many types, the most severe being types 1 and 2. The most severe forms of SMA cause rapid and irreversible deterioration of motor neurons, thereby affecting muscle functions including breathing, swallowing and basic movements3. Infants diagnosed with type 1 spinal muscular atrophy are unlikely to survive beyond 2 years of age. Children's Hospital 2 is the first specialized hospital in Vietnam to receive treatment for children with this disease since 2020. "Through these training courses, we hope that families who are about to have a baby will recognize the early signs of the disease so that they can be examined and diagnosed by experts. After being diagnosed, if the child is determined to have spinal muscular atrophy, appropriate treatment is needed, including persistent physical therapy to help maintain motor function of the muscles. We want to bring a message to families with children with spinal muscular atrophy to continue to persevere and accompany their children throughout this arduous and challenging journey," emphasized Dr. Nguyen Le Trung Hieu.

Physical therapy is a mandatory solution to help maintain motor function for children. Exercise needs to be performed persistently and appropriately according to each age and function of muscle groups.

According to Dr. Do Phuoc Huy, representative of the rare disease community in Vietnam: "The greatest wish of the rare disease community in general and the spinal muscular atrophy community in particular is the attention of the whole society, helping the group to have fairness in accessing treatment solutions, because currently there are many rare diseases that do not have treatment drugs even in developed countries in the world, spinal muscular atrophy has a treatment solution that brings survival to patients, children in Vietnam really want to soon have access to these treatments".

According to Mr. Dinh Tien Hai - Director of BTTE VN Fund: "The training program on spinal muscular atrophy carried out at Children's Hospital 2 is one of the programs in the 3-year project in collaboration with Novartis Vietnam Company Limited with the aim of raising awareness for the whole community about spinal muscular atrophy, a rare disease but with a very high mortality rate for children and we hope that the project will provide the necessary support to ensure the most important right, the right to survival, of children according to the international convention on the rights of the child of which Vietnam is a member; children with rare diseases such as spinal muscular atrophy should not be left behind just because it is a rare disease and access to treatment is limited".

The project to raise awareness and increase support for children with spinal muscular atrophy in Vietnam (SMA project “Supporting children with spinal muscular atrophy”) is implemented by the Vietnam Children's Fund in collaboration with Novartis Vietnam Company Limited and is expected to be implemented from 2022 to 2025 to contribute to reducing the burden of spinal muscular atrophy, a rare disease that causes the most deaths among genetic diseases in children in the world and in Vietnam.

Spinal muscular atrophy is a rare disease caused by a genetic defect. The incidence rate is 1/10,000 live births and the rate of people carrying the disease gene is 1/50. The disease is divided into many types, the most severe being types 1 and 2. If a newborn patient is diagnosed with type 1 spinal muscular atrophy, he or she is unlikely to survive past the age of 2. For children with type 2 spinal muscular atrophy, the child will never be able to stand and walk normally. These children often suffer from sequelae related to breathing and nutrition, causing a huge burden on the patient himself, his or her family, and the whole society. Because it is a rare disease, spinal muscular atrophy is not given much attention and awareness in the community, leading to late diagnosis and treatment, at which point the possibility of normal rehabilitation is almost impossible. Previously, there was no specific medicine to treat spinal muscular atrophy, so the disease did not receive adequate attention from doctors and medical staff to have timely intervention, diagnosis and treatment.

This project will help reduce the burden of the disease on patients, their families and the whole society. The program will help improve the necessary knowledge so that everyone, especially those of childbearing age, can understand the disease, quickly be diagnosed and treated promptly to minimize the serious consequences caused by spinal muscular atrophy. In addition to providing knowledge to better understand and manage the disease, the project will help patients with spinal muscular atrophy to be supported in accessing specific treatment quickly and sustainably, thereby helping to push back this disease and improve the quality of life of patients and the community better.

Deployed from December 2022, the project with a total budget of more than 8.1 billion VND will be implemented until the end of 2025 and is divided into 4 categories. These are: Communicating in the community to raise awareness of spinal muscular atrophy; Improving the diagnostic and treatment capacity of medical staff; Supporting specific gene testing for children at high risk of the disease; Conducting research on the disease in Vietnam, thereby proposing long-term and sustainable support policies for children with spinal muscular atrophy.

THANH NGAN

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