Maple Syrup Urine Disease. Gaucher Disease. Prader-Willy Syndrome. Pompe Disease. Angelman Syndrome. Though these diseases are hardly ever heard of, they do exist. Their names are not made up. But sadly most people do not pay a lot of attention to them simply because they are rare. “Rare diseases are in fact not a distant issue,” said Dr Duangrurdee Wattanasirichaigoon, professor of pediatrics rom the Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Faculty of Medicine.

Rare diseases — sometimes referred to as orphan diseases — are medical conditions that affect a small population. According to Dr Duangrurdee, there are about 6,000 to 8,000 rare diseases globally. The prevalence ratio of each rare disease is 1:2,500. Rare diseases can also affect every organ system and become chronic and even fatal. Only about 35% of patients suffering rare diseases have symptoms. And if left unattended, the patients might die before they even reach their sixth birthday.

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