Rubee Ahmad and Sharin Abdul Rahman are always preoccupied with their two sons, as all parents are. But their burden is much heavier than most as their worries have to do with keeping their sons alive, literally.
Their sons, Ahmad Adam and Muhammad Arman, have Hunter Syndrome or Mucopolysaccharidosis (MPS) Type 2, a rare genetic disorder affecting one in about 150,000 children in Malaysia.
There is no cure for MPS Type 2. Enzyme replacement therapy (ERT) is the only treatment available to reduce symptoms and improve the well-being of those with the disease.
Treatment, however, is very expensive, and unaffordable to most families.
“Adam and Arman need to go for enzyme replacement therapy at the Universiti Malaya Medical Centre once a week. Each treatment costs about RM15,000 for both boys and they need four treatments a month. It comes up to about RM60,000,” explains Shahrin.
Thankfully, with the help of the hospital and NGOs like the Malaysia Lysosomal Diseases Association (MLDA), Rubee and Sharin are receiving funding from Zakat Selangor, ICAP (an international humanitarian healthcare fund) and the pharmaceutical company which will cover the boys’ treatments until May 2020.
Beyond that, they don’t know if they will have funding to continue the ERT.
“We are very thankful that we have this funding. But we need to start thinking about how we will afford treatment after May,” says Shahrin.
MPS Type 2 is a Lysosomal Storage Disease (LSD) caused by a genetic defect, a broken X-chromosome, and it is passed from mothers almost exclusively to sons.
Children who have it are unable to produce the enzyme that allows their bodies to get rid off and recycle cellular waste. The accumulation of this waste in the cells causes progressive damage to the body and starts to affect the organs, impairing physical and mental development.
Because it is a progressive disease, children with MPS Type 2 often seem normal when they are born and will only start displaying symptoms when they are as young as 18 months.
Children with the disease often lose the ability to talk, walk and even eat.
Most don’t live to see adulthood – their average lifespan is between 10 and 20 years.
Adam was five when he was diagnosed. By that time, he had many of the symptoms – coarse facial features, an enlarged head, broad nose, chest and back deformities as well as claw-like hands. He had breathing difficulties and sleep apnea, causing him to wake up in the middle of the night, unable to breath. His limbs were stiff, making it difficult for him to move.
He was also smaller than children his age.
Arman was diagnosed when he was two and because he received treatment earlier, he didn’t have as many symptoms.
Some children with MPS Type 2 only suffer physical impairments but Adam and Arman’s condition has also caused cognitive impairments: though they understand, they aren’t able to talk.
Because the disease is so rare, it took a while for the boys to be diagnosed.
“We hadn’t even heard of this disease before. It’s really rare so what are the chances that both my sons have it? When Adam was born, he was a very cute baby. He was a blessing; he completed our lives, really. Then as he grew up, he wasn’t reaching his developmental milestones. He wasn’t able to speak or walk.
“Adam was also constantly getting the flu. We kept having to take him to clinics and hospitals but none of the doctors diagnosed him with MPS Type 2. We both have siblings who are doctors but they too never diagnosed him with this disease,” shares Rubee.
It was during a visit to the Sungai Buloh hospital for Adam’s occupational therapy that a doctor suggested they test him for Hunter Syndrome.
“It took six months for Adam to get diagnosed because his blood and tissue samples had to be sent to Australia to be tested.
That was the longest and hardest six months of our lives. It felt as if I was living a nightmare. I went to work every day but I don’t think I did much work. I’d spend my time online, reading up about the disease and crying as I read about the seriousness of this disease. My heart sank as I read that there is no cure for this disease and that most patients don’t reach adulthood.
“Macam mau mati, kot (I felt like dying). It’s the worst thing to have to imagine burying your own child,” shares Rubee, 37.
One day at a time
Adam turns 10 this year and his brother, six. For Rubee and Sharin, every day they get to be with their boys is a blessing.
“We don’t know how long they have and so every day that they are well is a milestone,” says Rubee.
Adam is the calmer of the two, sitting quietly on the sofa, playing games on his father’s mobile phone as his younger brother, who can hardly keep still, flits from the carpet in the hall to the sofa to the dining table where his mother has laid out some drinks in their home in Petaling Jaya, Selangor.
“Look at him,” says Rubee, smiling, nodding her head towards Arman. “He’s the adventurous one, obviously.”
Although the boys can’t talk, they are very affectionate and seek out their parents for cuddles.
“My boys have been on the treatment for two years and alhamdulillah, we can see some improvements. Adam breathes better and doesn’t wake up choking at night any more; his limbs are not so stiff and he can walk better now (albeit on tip toe). The improvements in Arman are more apparent because he started on the treatment at a younger age. He walks a lot better than his older brother and has overall fewer symptoms,” says Rubee.
Nevertheless, caring for the two boys is all-consuming.
“It is challenging,” shares Shahrin. “Every family goes through challenges … this is our challenge to bear. It’s hard enough bringing up normal boys, but children like them requires extra effort because we can never be complacent.
“It can get frustrating sometimes but then we look at our boys and how they love us consistently. They really are a blessing and we must make sure we are strong and keep ourselves healthy and fit because we cannot afford not to be there for them.
They aren’t able to do things for themselves and so it’s like taking care of two babies. Sometimes I wonder why I am so tired all the time and then I realise it’s because we are constantly looking after them,” says the 40-year-old father.
Because caring for the boys requires both of their full attention all of the time, they rarely go out.
“It’s sometimes just too difficult. Sometimes we go out to eat but the stares we get can be quite hurtful,” shares Rubee.
For Hari Raya though, the family goes back to both Johor (where Rubee is from) and Kelantan (Shahrin’s kampung).
“We have a strategy: we leave in the wee hours of the morning when traffic is not so bad and the boys are still asleep. That’s our secret. It was my idea!” she says proudly.
Both Rubee and Shahrin work with McDonald’s Malaysia – she works in Human Resources and he is in the IT department.
Shahrin, shares Rubee, has been her backbone throughout their ordeal – giving her the strength to be there for their boys.
“He is calm and strong. He’s very hands-on. Without him, I don’t think I would be able to cope. There are still moments when I break down but he is always there for me to lean on.
“MPS Type 2 is an X-linked disease, which means I am the carrier. But he has never once blamed me for passing this disease down to our boys. Something like this can break a relationship because things can slip out, you know? But Shahrin has never once said that this was my fault,” says Rubee, her voice choked with emotion.
A costly affair
Funding, says MLDA president Lee Yee Seng, is the biggest challenge for families of children with rare diseases.
In the 2019 budget, the government allocated RM16mil for rare diseases, of which RM10mil is for patients with LSD.
However, with the exorbitant cost of treatment (which can reach up to RM1mil per child per year), this funding is grossly insufficient, and most families still have to depend on donations from charities, fundraising by NGOs, crowd-funding or compassionate drug programmes from pharmaceutical companies in order to get access to treatment.
“It’s a very lonely journey for parents. If you have to fundraise, you have to do it on your own, largely. Joining associations like MLDA will help as we give all families who are our members RM1,500 aid a year to help with their expenses. We also help with fundraising and support.
“We also raise awareness about rare diseases among other parents, the public and health practitioners. Often, children with rare diseases are kept at home and are unseen. But they deserve to be seen and to have a fighting chance,” says Lee.
For Rubee, joining an association like MLDA gave her family the support they needed in coping with the disease.
“Parents of children with rare diseases like MPS Type 2 need support, not just financially but emotionally too. We go through the same pain seeing our child grow and not knowing when they will get their angel wings. It’s just good to be able to be there for one another. We also need to raise awareness about rare diseases so that these children can have a chance, which they deserve too,” says Rubee.
The Ronald McDonald House of Charity Malaysia is trying to give this family a chance by raising funds through an online campaign, in NGOhub platform. To contribute, go to bit.ly/fundraisingforHunterSyndrome