Having seen his two daughters suffering from Pompe, one of many rare life-threatening genetic disorders, improve tremendously from an enzyme replacement therapy, Lee Yee Seng is now on a quest to ensure more children receive such treatments.
Despite his busy schedule as an engineer, he agreed to be president of the Malaysia Lysosomal Diseases Association, to not only create awareness about lysosomal storage diseases (LSDs) but also ensure every child suffering from them has the right to life and good quality healthcare.
The association, formed in April this year, comprises parents with children suffering from LSDs.
Pompe, which Lee's daughters are suffering from, belongs to a group of more than 45 rare genetic diseases called LSDs.
Each is caused by a genetic defect, which results in a deficiency of the enzyme responsible for breaking down a substance that then accumulates in cells' lysosomes.
While individually each of these diseases is relatively rare, grouped together they affect one in approximately every 7,700 babies born.
"My wife and I have seen our daughters suffer from frequent respiratory infections and feeding difficulties when they were babies. They have faced a variety of health complications; endured lengthy hospital stays and underwent various treatment courses.
"We have seen them having difficulties in walking and even standing prior to receiving the treatment.
"My priority and mission in life now is to ensure every affected child receives early treatment, and has a chance for a normal life just like my daughters."
He said many people and even doctors were ignorant about LSDs and hence he wants to spread the word about these diseases.
"Sadly, there is no known cure available for LSDs and treatment is only available for some of the diseases.
"Treatment is also usually symptomatic instead of dealing with the underlying enzyme problem.
"Without treatment or continuous medical support most children face early death - within a few months or years of birth.
"It is also difficult to diagnose because the early symptoms are very similar to more common diseases.
"Crucial treatment time is often lost because of the delay in detecting the diseases.
"This is why there is an urgent need to quickly educate more people, especially doctors, on LSDs so that more patients will benefit from early detection and treatment."
Another big obstacle, he said, in ensuring all LSDs patients receive medical treatment is the cost factor.
"The treatment for LSDs like the enzyme replacement therapy can run from RM300,000 to RM1 million per child per year. And the treatment is for life.
"Most people will never be able to afford this. That is why, through the association, we want to work with the government and other stakeholders to establish a sustainable healthcare system for all LSDs patients," Lee said.
Although the government does extend funding for some LSDs patients to enable them to get treatment, Lee said more should be done as the number of patients is outgrowing the amount of funding allocated.
"We are very grateful that the government has looked into the plight of people suffering from LSDs. In fact, very few governments around the world do this.
"However, we hope that all those suffering from treatable genetic diseases will be given a chance for a normal life with the help of the government," he added.
Lee's daughters, Yen Ling, 11, and Wei Ling, 7, are among the few children who have been receiving enzyme replacement therapy since 2006 with the support of the government.
They were also among the few who were involved in the early enzyme replacement therapy trials.
Lee also said the country needs more medical facilities and expertise to support patients suffering from rare genetic disorders.
"Kuala Lumpur Hospital is the only medical facility in the country that supports these patients.
"Despite their condition, most patients from other states have no choice but to travel, sometimes on a weekly basis, to Kuala Lumpur for treatment."
It would also be ideal, he added, if the country had a genetic research centre to cater specifically to LSDs.
As early detection allows for more comprehensive and effective treatment, Lee said the association will also push for the introduction of a newborn screening programme.
This, he said, should be mandated as a public health practice so that every newborn undergoes a test for early detection of genetic, metabolic or hormonal conditions.
"Taiwan is one of the few countries in the world that have made newborn screening compulsory.
"With early diagnosis, adequate treatment can be extended quickly and patients and their families can be spared from further suffering.
"For children suffering from LSDs, every second counts." he said.
According to Kuala Lumpur Hospital's clinical geneticist and metabolic paediatrician Dr Ngu Lock Hock, many with LSDs die at a young age, often within a few months or years of their birth.
"While the underlying cause is similar for all LSDs, age of onset and symptoms may differ widely among individual diseases depending largely on the type of waste that is stored and the type of cell that is affected."
He also said generally rare genetic diseases affect almost every part of the body of people of all ages and races.
He said some LSDs occurred more frequently within certain ethnic groups.
"For example, Gaucher disease and Niemann-Pick type A disease are much more common among Ashkenazi Jews and infantile-onset Pompe disease is more frequently seen in African Americans.
"In Malaysia, Pompe is more prevalent," said Dr Ngu.
Due to the complexity of LSDs, disease identification and diagnosis can be very challenging.
"Most LSDs are inherited in an autosomal recessive manner and are unknowingly passed down from generation to generation.
"Autosomal recessive means that a person must inherit two defective copies of the gene, one from each parent, to develop the disease."