Hanoi: 4-year-old Than Minh Duc has a rare disease that causes his heart muscle to enlarge and requires lifelong treatment at a cost of nearly two billion VND per year.
Taking care of her child at the Center for Endocrinology - Metabolism - Genetics - Molecular Therapy, National Children's Hospital, Ms. Huyen, 44 years old, mother of baby Duc, said that when he was one day old, the baby was lethargic, had difficulty breathing, and stopped breastfeeding. The doctor examined him clinically, did an echocardiogram, did tests, and combined with the family history, determined that the baby had Pompe metabolic disorder.
Pompe disease is a genetic neuromuscular disorder that causes gradual disability and death. It is caused by an enzyme deficiency that causes glycogen accumulation in the body, leading to damage to the skeletal, respiratory, and cardiac muscles. The incidence is approximately 1/40,000 people.
Before giving birth to Duc, Ms. Huyen had lost a child to the same disease. "Now it's the second child's turn to get sick, I'm so shocked, wondering why life is so unfortunate," the mother said on June 5.
With no hope, plus the cost of 1.7 billion VND per year, and lifelong treatment, Ms. Huyen took her child home, leaving her fate to chance. The doctors at the Children's Hospital continuously called to encourage and advise the family to let her child receive treatment. At first, Ms. Huyen refused, then agreed to let the doctors give her replacement enzymes when Duc was 23 days old.
Dr. Nguyen Ngoc Khanh, Deputy Director of the Center for Endocrinology - Metabolism - Genetics - Molecular Therapy, said that treating Pompe disease requires the coordination of many different specialties such as enzyme replacement therapy, respiratory support, heart muscle, a diet rich in protein, L-alanine, and low in starch.
Among them, enzyme replacement is the most effective method, helping to maintain normal heart function and reduce heart size, reduce glycogen accumulation, and improve muscle function. The enzyme is produced by Sanofi, costing nearly 300,000 USD per course of treatment for one year.
In 2019, the Ministry of Health and Social Insurance decided to pay 30% of health insurance for enzyme infusion costs. In addition, with the help of organizations and individuals, treatment costs have also been significantly reduced. For example, baby Duc has a unit that sponsors lifelong costs, thanks to early diagnosis, the prognosis is very good, said Dr. Khanh.
Drugs to treat rare diseases often cost millions of dollars per dose due to high profit margins, limited patient coverage, expensive ingredients, and complex manufacturing. In addition to enzyme therapy for Pompe disease, the spinal muscular atrophy drug Zolgensma, produced by Novartis, costs $2.1 million (nearly VND50 billion) per dose. The record is Hemgenix - a gene therapy for adults with hemophilia B - approved by the US Food and Drug Administration (FDA) in November 2022, priced at $3.5 million per dose.
Ms. Huyen and her daughter at the hospital, May 2023. Photo: Phuong Thao
From 2014 to present, the National Children's Hospital has detected 52 children with Pompe metabolic disorder, treating 25 cases. Previously, no case was diagnosed with the correct name Pompe disease, but was only diagnosed with hypertrophic cardiomyopathy and proximal muscle weakness, with unknown causes.
Pompe disease is divided into two forms, the infantile form and the late-onset form (juvenile or adult). In the infantile form, clinical manifestations appear before the age of two, causing muscle weakness, poor swallowing, a thick tongue, an enlarged liver, and hypertrophic cardiomyopathy, which can lead to respiratory failure or respiratory infections. Children usually die before the age of one if not treated.
The symptoms of Pompe disease are difficult to detect. By the time clear signs appear, the disease is already severe. Therefore, doctors advise parents to pay special attention if their child wheezes, has purple lips when feeding, has muscle weakness, or slow movement. Early detection and proper treatment will increase the child's survival rate.
Like baby Duc, thanks to the right treatment regimen and timing, his muscles and heart walls are now less thick and enlarged, and he moves better and is more active. "Even though my child has to take enzymes for the rest of his life, I will never give up or let his life go," said Ms. Huyen.
Thuy Quynh
Source link
Comment (0)