HCMC Children’s Hospital No.1 serves as a recurrent point of contact for 39-year-old To Thi Trang from Xuan Loc District of Dong Nai Province and her son, L.T.T., whose physical development presents a stark disparity between his youthful physique, reminiscent of a preschooler, and his chronologically appropriate facial features.
Mucopolysaccharidosis (MPS) has precipitated T.’s physical atrophy, auditory and vocal impairment, cerebral atrophy, valvular stenosis, cardiac insufficiency, and septic arthritis. T.’s physical status deteriorates with each emergency hospitalization. The unbearable pain stemming from synovial effusion confines him to maternal comfort.
"At the age of three, my child's hands exhibited deformities, prompting numerous inconclusive hospital visits. Progressive multi-organ damage ensued, culminating in disability. In 2021, a fortuitous visit to Ho Chi Minh City Children's Hospital 1 led to specialized international diagnostic testing, revealing the rare disease," Ms. To Thi Trang recounted.
The deformities of Trang’s son at age three led to years of fruitless hospital visits. In 2021, a diagnosis at Children’s Hospital 1 revealed a rare disease. With limited treatment, her son’s survival relied on injections and her determination. Despite a near-fatal episode and discouragement, she vows to pursue all possible treatments.
The predicament of Thanh Binh from Tan Binh District of HCMC, whose two children suffer from Pompe disease, a rare autosomal recessive neuromuscular disorder with an incidence of 1/40,000, defies adequate description. This condition necessitates mechanical ventilation and frequent emergency hospitalizations due to debilitating physical frailty. Each day represents an arduous struggle for survival.
Through the concerted efforts of physicians at HCMC Children’s Hospital No.1, applications for international funding to procure enzyme replacement therapy for Pompe disease were successfully approved. “Despite their compromised health, my children harbor aspirations. My 12th-grade daughter, proficient in English, aspires to pursue a career in medicine”, Thanh Binh revealed.
Rare diseases pose a formidable challenge to global healthcare systems, with over 300 million individuals affected by more than 6,000 such conditions. In Vietnam, approximately 100 distinct rare diseases impact 6 million individuals, though diagnostic rates remain critically low. Statistics from the Vietnam Medical Association (VMA) indicate that 58 percent of rare diseases manifest in pediatric populations, with a 30-percent mortality rate before the age of five.
In Southern Vietnam, HCMC Children’s Hospital No.1 is a pioneering medical institution in pediatric rare disease research, diagnosis, and treatment. Since 2017, the hospital has managed approximately 500 children with rare diseases, including metabolic disorders, spinal muscular atrophy, and neuromuscular diseases.
Nguyen Thi Thanh Huong, PhD MD, Deputy Director of HCMC Children’s Hospital No.1, informed that a disease is classified as rare when its incidence approximates 1/60,000 live births. Diagnostic complexities arise from the rarity of these conditions, necessitating specialized and often international testing.
The most significant impediment to rare disease management is pharmaceutical availability. Currently, only 5 percent of rare diseases have FDA-approved therapies. The exorbitant costs of these treatments, sometimes reaching tens of billions of dong per dose, further compound the issue.
The recent inclusion of Pompe disease therapy in national health insurance coverage represents a significant advancement in rare disease management. Furthermore, multinational pharmaceutical corporations provide non-profit drug donations. At HCMC Children’s Hospital No.1, these donations amount to VND40 billion (US$1.6 million) annually.
“These therapeutic interventions can fundamentally alter the lives of children with rare diseases. We acknowledge and appreciate these contributions and community support. We anticipate expanded health insurance coverage for rare disease therapies”, said Deputy Director Nguyen Thi Thanh Huong.
Medical experts also advocate for the importation and subsidization of rare disease medications to enhance patient access.
Assoc Prof Nguyen Thanh Hung, PhD MD, Director of HCMC Children’s Hospital No.1, emphasized the hospital’s collaboration with Tu Du Hospital and Hung Vuong Hospital in early genetic disease screening to facilitate timely intervention for children with rare diseases.
He underscored the necessity of multi-stakeholder collaboration, including government agencies, policymakers, healthcare professionals, and pharmaceutical companies, to improve the quality of care for children with rare diseases. The resilience of patient families remains paramount.
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