Between life and death
MOST of us would agree that money is important, although perhaps not the most crucial thing in life.
But for a certain number of patients in Malaysia, money is literally the only thing standing between living and dying.
These patients have a group of rare genetic diseases called lysosomal storage diseases (LSD).
LSD consists of a group of inherited metabolic diseases where a defective or missing enzyme causes metabolic errors in the lysosome, which is the recycling centre within the cell.
This results in an unwanted buildup of various substances that can cause irreversible damage to various organs in the body, eventually resulting in early death.
Most of these disorders are autosomal-recessively inherited, meaning that the disease is passed down from healthy carrier parents, who each have one copy of the mutated gene.
According to the Malaysian Lysosomal Diseases Association (MLDA) president Lee Yee Seng, there are altogether about 50 different types of LSD.
While there is enzyme replacement treatment available for LSD, it can cost up to millions of ringgit per patient during their lifetime.
According to MLDA statistics, the number of LSD patients in Malaysia increased from 22 patients in 2011 to 153 this year.
Lee shares that the Government has allocated RM8.5mil a year for the medical treatment of 28 LSD patients.
However, with an average cost for each patient ranging from RM500,000 to RM1mil a year, this amount, which works out to an average of RM303,571 per patient, is not sufficient to meet their needs.
In addition, a 10% annual budget increment approved by the Cabinet in 2010 to cover the expected increase in drug dosage in accordance with patient weight increase as growing children, never materialised.
This has caused the patients to be underdosed due to the lack of funds, leading to a deterioration in their health.
Fortunately, in 2014, MLDA received an additional RM2mil in funding from the Health Ministry, enabling them to provide proper treatment for seven LSD patients.
However, the funding was only sufficient for a year’s supply of medication.
There are currently another 13 more patients waiting for treatment, whose conditions will cer- tainly become worse and could result in early death, if left untreated.
In the last two years alone, two children have died.
Most parents of LSD patients are blue-collar workers, such as laborers, salesmen and farmers, and do not have the capability to raise funds for their children’s treatment, says Lee.
Even for middle-class families, the cost is beyond a single family’s capability, adds the engineer who has two girls with Pompe disease – a type of LSD.
MLDA is faced with the impossible task of raising RM20-30mil in funding every year to help its LSD children cover their medication.
“From 2011 until now, using the funds raised so far, we managed to provide healthcare support and assisted in enzyme purchases in certain circumstances, such as prior to bone marrow therapy, but only the Government has the capacity to help these children,” says Lee.
Malaysians with rare diseases usually experience unnecessary barriers, not just from the medical condition itself, but also in obtaining proper diagnosis, information, treatment and care.
When the condition is rare, it can be difficult for a doctor or a specialist to make a definite diagnosis, a process that often takes many years.
Therefore, Lee urges the Government to recognise rare disease patients in Malaysia as one of the underprivileged groups of people that need urgent attention, and hopes that their budget allocation can be increased to RM30mil annually to help treat them.