One out of 4,000 babies born in Malaysia is affected by a rare disorder, according to Universiti Malaya Medical Centre (UMMC) Genetic Diseases Advisor, Dr. Juliana Lee.
She said there were thousands of disorders classified as rare, and medication to treat them is difficult to obtain or too expensive.
“Among the rare disorders include brittle bones (osteogenesis imperfecta), Duchenne muscular dystrophy (DMD), Prader-Willi syndrome (PWS), and metabolic disorders,” she told Bernama here Friday.
She said rare disorders were genetic and could be fatal or cause physical and developmental delays in children.
“The problem is that most of the time, these disorders cannot be detected in the early stages of birth. Some can only be detected after the child is four or five years old. For example, a child with PWS will experience defects on the muscles and other bodily functions only much later, which will lead to dependence on a wheelchair,” she said.
She said in many cases, patients, especially children, die due to late detection and treatment.
Malaysian Rare Disorders Society (MRDS) president Datuk Hatijah Ayob said the society was working to increase awareness among parents and doctors so that they would be more alert to any strange symptoms found on a newborn.
She said the society was formed in 2004 to gather parents who needed support and advice on how to care for babies with rare disorders.
“Our society is a support group for these parents and lend them a should to cry on, as well as share experiences with each other,” she said.
“We also have a medication day where parents meet one a week to share medicines because they are costly,” she added.
Hatijah said medication acted to delay effects of disorders but cure was difficult.
“A lot of research still needs to be done to find the best treatment available. Although treatment is expensive, I believe each patient deserves to get the best,” she said.
On Jan 18, 2007, Hatijah officially registered the society with the hope that activities to collect funds could be carried out more efficiently.
“We will use the funds to disseminate information, conduct research and improve the way these individuals and their families live,” said Hatijah.
For more information, visit the Malaysian Rare Disorders Society website at www.mrds.org.my.