The challenge of rare disease
Patients such as those with Hunter syndrome have to grapple with the cost of enzyme replacement therapy, writes Kasmiah Mustapha
MUHAMMAD Hazim Imran Faizal wishes he is healthy, especially when he watches his friends play football and other games. Due to his condition, it is impossible for him to join them. His weak muscles make it difficult and painful for him to walk, let alone run.
“I am sad that I am not healthy like my friends. They can run and jump, but I can’t because of my legs. Sometimes I feel a shooting pain in my chest,” he says.
The 14- year-old suffers from mucopolysaccharidosis type 2 or Hunter syndrome. It is a rare and debilitating genetic disorder that affects mostly boys who inherit the defective enzyme from their mothers.
It is caused by a deficiency of the enzyme i duronate-2-sulfatase that breaks down cellular waste in the body. The waste builds up and stores in the bones, tissues, organs and muscles which leads to progressive, permanent and debilitating symptoms. The abnormalities of cartilage and bones stunted Muhammad Hazim’s growth, making it difficult for him to walk. He has joint stiffness, an enlarged heart which causes the shooting pain, an enlarged liver and partial hearing loss.
His mother Titien Juwina Abd Rahman says Muhammad Hazim did not show any symptoms at birth. However, when he was two, Titien Juwina noticed his back was covered with blue-green spots. Muhammad Hazim’s fingers were also lightly bent. But as he was not in pain, and was active, she did not think it was serious.
When he was four, Muhammad Hazim had a hernia and was admitted to Universiti
Malaya Medical Centre for treatment. The doctor noticed his large head, large round cheeks, bushy eyebrows, thick lips, broad nose and swollen knees, symptoms common in Hunter syndrome.
Titien Juwina says it came as a shock when told of his condition as no one in the family had it. Muhammad Hazim is the third of five children and the only one affected by the disease.
“It was even more shocking when the doctor told me that it cannot be cured. I was told to monitor his condition because Hazim would face more health issues as he grew. Initially, I was lost because I did not know what to do. I did my research and found an article about a mother with a child with Hunter syndrome. It was a relief to know that I was not alone and that there were others who could help me deal with my son’s condition.”
She joined the Malaysia Lysosomal Diseases Association (MLDA), a nonprofit organisation for patients with Lysosomal Storage Diseases. There are 50 types of the disease, of which Hunter syndrome is one.
In 2015, through a government grant given to the association, Muhammad Hazim was able to get the treatment he needed. He receives enzyme replacement therapy every week.
“The treatment helps to ease some of his symptoms. His fingers are still stiff but he is able to hold a pen. His heart and liver are no longer enlarged. But he is still facing challenges with his condition. All I can do is to always make sure he gets the treatment he needs,” says his mother.
LIFELONG TREATMENT
MLDA president Lee Yee Seng says misdiagnosis, and lack of treatment and financial aid are the common challenges that families of children with rare diseases face.
“The children are in prolonged pain due to lack of proper diagnosis. Unfortudiag and nately when they are nosed, the cost of tests treatments are really high. Most of them are forced to rely on government and public donations.”
He says only eight out of 50 types of Lystreated osomal Storage Diseases can be with enzyme replacement therapy. However, the cost for each patient is RM1 million every year and they have to be on lifelong treatment.
The eight are Hurler disease, Hunter syndrome, Sanfilippo syndrom, Morquio A syndrome, Maroteaux-Lamy Syndrome, Sly syndrome, Pompe, Gaucher and Fabry diseases.
Lee says there are more children with Hunter syndrome compared to other rare diseases in the country.
“There are 90 patients with the association and half of them have Hunter syndrome. A child has a 50 per cent chance of getting the defective enzyme as it is inherited from the mother.
“We have used a medical grant of RM550,000 for the Hunt for Hunter Project, involving genetic testing among family members of Hunter syndrome patients. We identified 28 carriers and they were informed of the potential risks and advised to go for prenatal screening.”
The association is determined to ensure all Lysosomal Storage Diseases patients receive the treatment they need. Although the Finance Ministry has allocated RM16 billion for rare disease patients in Budget 2019, it is still not enough to meet the needs of these patients, he says.
“As more drugs have been invented for rare diseases in recent years, we hope the government will come up with a Rare Disease Act to ensure every child receives prompt treatment before it is too late.”
We hope the government will come up with a Rare Disease Act to ensure every child receives prompt treatment before it is too late. Lee Yee Seng