Fourteen years ago, Nguyen Thi Hue gave birth to her first child, who appeared healthy at birth. However, as he grew, he exhibited unusual developmental delays, including difficulty in rolling over, walking, and recognizing people. Despite numerous hospital visits, doctors could not determine the cause of his symptoms. Hue initially attributed her son's condition to complications during her pregnancy, including a near miscarriage.

When Hue had her second son, he exhibited the same developmental delays as his older brother. The couple, Chu The Ky and Nguyen Thi Hue, were devastated as they sought answers from various medical facilities without success.

Desperate for answers, the couple turned to Hanoi’s Post Hospital, where genetic testing revealed that both parents carry the recessive gene for congenital muscular dystrophy, an extremely rare condition with only about 50 reported cases worldwide by 2023. This recessive genetic disorder occurs when both parents carry the mutated gene, giving each child a 25% chance of inheriting the disorder.

Characteristics of the disease include early-onset hypotonia (low muscle tone), muscle weakness, delayed motor development, progressive loss of mobility, intellectual disabilities of varying severity, language skill issues, autism traits, and cardiomyopathy.

Dr. Nguyen Thi Nha, Director of the Center for Reproductive Support at Post Hospital, explains that for couples who both carry the disease gene, in vitro fertilization (IVF) combined with pre-implantation genetic diagnosis (PGD) is the only way to ensure the birth of healthy children. Following this advice, the couple underwent IVF and obtained seven embryos, two of which were free of the disease after genetic screening. Fortunately, Hue successfully became pregnant on the first embryo transfer, and in late June 2023, they welcomed a healthy baby boy.

Genetic diseases, often hidden in carriers without symptoms, can have a 25% risk of affecting children if both parents are carriers. In some disorders, even a single carrier parent can pass on the disease. Approximately 30% of children with genetic diseases do not survive beyond the age of five.

Statistics show that over 80% of children with genetic disorders are born to parents who appear healthy with no known family history of the disease. Preventive treatment using advanced gene technology and reproductive techniques offers hope for many couples with genetic disorders.

Vietnam reports around 100 genetic diseases, with approximately 11 being more common, including thalassemia (a blood disorder), hemophilia (a bleeding disorder), spinal muscular atrophy, congenital adrenal hyperplasia, muscular dystrophy, and congenital deafness.

Phuong Thuy