According to a story from Vietnam News, mother Huyen Trang has seen two of her children face death’s door within mere months of being born. Her first child died at only two months old; the reason was never clearly understood by the doctors. Her second child, Nguyen Lam, is currently hospitalized and fighting for his life. At just five months old, he was diagnosed with Pompe disease. Since then, he hasn’t been able to leave the hospital.
About Pompe Disease
Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of the certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.
Saving Kid’s Lives
Stories like Trang’s bring to light the reality that many genetic disorders still regularly cause deaths in children that are only months old. Many of these diseases can only be treated if the child is screened and diagnosed soon after birth; in some situations, there is almost nothing that can be done. Trang told her story at the Việt Nam – North American Medical Genetics Conference, which recently took place in Hanoi. This event focused on subjects like prenatal screenings, early diagnosis of genetic conditions, and genetic counseling.
Professor Lê Thanh Hải says that rare genetic disorders not only cause high rates of infant mortality, but are also one of the top reasons that patients are forced to stay in a hospital facility for long term monitoring and treatments. The fatality rate of genetic disorders for kids under five is 16 percent in Vietnam. 80 percent of rare diseases are caused by heritable or genetic factors.
The best solution is to improve screening and treatment procedures, and the National Hospital of Pediatrics in Vietnam has implemented screenings for 55 genetic disorders since December 2017.
