Mother's love: Caring for two sons with rare disease

INTERVIEW | Rubee Ahmad, 40, has devoted her life to taking care of her two sons Ahmad Adam (who will turn 14 in November) and Muhammad Arman (aged 10) who are both diagnosed with MPS II (also known as Hunter Syndrome).

It is a rare disease that affects only a handful of individuals in Malaysia. MPS II is often passed on genetically and is difficult to diagnose.

Patients who suffer from MPS II have an enzyme deficiency that prevents the body from breaking down sugar and this causes sugar molecules to build up over time, damaging their organs and tissues.

This starts affecting both physical and mental development. The condition almost always affects boys, as the deficiency is linked to the X chromosome.

To date, there are 39 known patients in Malaysia, but only nine patients are currently receiving regular treatment.

Rubee and her family live in Damansara Damai and she and her husband currently take turns working from home to look after their sons.

“People will get married, and then, they will have kids. Then you watch your kids grow older and then you become a grandmother.

“That was how I envisioned my life to be. So, it was such a blessing to have my first son. He was so adorable,” recalled Rubee.

Adam did not seem to have any health issues and seldom fell sick when he was a baby. However, they noticed something amiss when he still could not talk or walk properly by the time he was four years old.

His parents assumed he was a little slow to learn or perhaps, was autistic. The only red flag - Adam was prone to catching the flu.

Rubee gave birth to her second child Arman and described that time as trying to take care of two babies at the same time.

“Adam was in diapers, he could not talk, and I had to feed him,” said Rubee.

Their regular general practitioner (GP) did not notice anything amiss when it came to Adam. They also visited many specialists but no one could diagnose Adam’s condition properly.

However, an ENT specialist at the Sungai Buloh Hospital suspected something was amiss and asked Adam to walk.

“I'm like, why are you asking my son to walk? I didn't get it. His second question was, does his brother look like him? I still did not understand,” said Rubee who later confirmed via the internet that one of the signs of MPS II was that the person would be bow-legged.

As for Arman looking like Adam, it turns out that children with Hunter Syndrome also have similar facial features no matter what race or skin colour.

Diagnosing the condition

The ENT specialist at Sungai Buloh then referred her to the Genetics Clinic at Universiti Malaya Medical Centre (UMMC) where genetic assessment, counselling and testing were done to confirm the diagnosis.

Blood and urine samples were taken from Adam. While waiting for the results, she posted a photo of her son’s claw-like hand to Autism Malaysia's social media group.

“There was a mother who replied. She is a special needs teacher. The first thing she said was, "your son looks like he has MPS II.”

Rubee then continued her research into MPS II…and found out the condition is inherited from the mother’s side.

“I am the only daughter out of four sons. So, either my mother was lucky that all her sons are 'normal' or I am the first generation to pass this condition to my sons.

“My mother was adopted, and I did ask her whether any of her siblings has this condition and she said they are all 'normal'.

“I might be the first generation to have it and that is why I chose not to have any more kids because I don't think I'm strong enough.

“If I have a daughter, I do not want to give this type of life to her. And if I have a son, it's always a 50-50 chance he will inherit this condition,” she said.

Reading up on the disease was a huge turning point for Rubee. Rare diseases such as MPS II have no cure and the children might not grow into adulthood and may experience defects in their organs.

“I remember that time. I was sitting down, it was during mealtime and I could not do anything, I couldn't think of anything and my husband was not at home at that time.

“It was tough. I could not believe it. Out of the millions of people that are in Malaysia, why my children? You know, the math, it did not add up.”

While waiting for the results of her son’s blood and urine test, Rubee made an appointment to see Dr Thong Meow Keong, a paediatrics specialist.

Raising funds for treatment

The recommended treatment for MPS II is enzyme replacement therapy (administered intravenously) and it costs about RM60,000 a month, per child.

“We were so desperate, we didn't know what to do, and I remember staying up in the middle of the night. I couldn't sleep. I felt so angry, I felt so desperate.

“I wrote to a lot of agencies and tried to get whatever help I can to get the funding for the medication, which is a lot,” recalled Rubee about the effort to raise the money seven years ago.

Her friends helped raise funds through crowdfunding. Her family pitched in as well. Strangers also pitched in after hearing of her plight via the media.

“I was also lucky because the company that I work with also helped me. They sent the email out to everybody. We have a charity wing under my company. That is how we started.

“We also come under the humanitarian programme of the drug company and also receive support from Zakat Selangor.

“Every week, I need to take my kids to the hospital and the whole process will take between three and five hours. So that's how I spent every week for the last five or six years,” Rubee stated.

Once treatment started, Adam was prone to joint pains and was sick most of the time. Arman started getting treatments at a much earlier age.

“I'm a tough mum, you know, I take care of my kids. I give them good food. I make sure that they don't, you know, bathe at night. I am old-fashioned. I do believe in all these old traditions, you know.

“The one thing that is very obvious and something that until now we cannot solve is Adam’s muscular problem, meaning his hands, his size, actually (got) affected because of MPS II.

“The younger one, Arman, started getting treatments at a younger age. He is like a normal naughty boy. You can see the difference,” she mentioned.

Rubee said that the costs of treatment for both sons are a cause of worry because it is something they have to endure for their entire lives.

“You don't know what your luck will be like, you can only pray for the best. That's all you can do.

“But I'm amazed at myself. Can I say that?” asked Rubee, who was then assured that she could.

“One thing about UMMC is that they are very detailed. They will check everything. If you have this problem, they will check from A to Z on what's wrong with your child.

“Adam had undergone surgery because they said he had excess water in his brain.”

Rubee said that balancing her home and career is not an easy feat, as sometimes issues at home can affect her at work. Putting on a bright smile for those around her when she is not feeling cheerful is never easy.

The two boys are currently being cared for by Rubee and her husband because they do not have a babysitter.

She works full-time and attends to her children’s needs. Adam has also been prone to having seizures on several occasions since last year.

However, Rubee has some flexibility to work from home because of her seniority in her company while her husband, who works in the Information Technology industry, only recently changed jobs.

“It's me taking care of the children three to four times a week. I wake up in the morning, you know, get them meals, bathe them, cook and manage my job,” explained Rubee.

New challenges with time

For now, Adam is behaving like an emotional teenager and Arman is becoming a handful.

To help her cope, Rubee turns to a support group, Malaysia Lysosomal Diseases Association (MLDA), which offers a community where families can find emotional support.

MLDA also plays an important role in raising awareness about rare diseases, helping families seek financial support for treatment and advocating for early intervention strategies.

“My eldest son has started to have seizures. So, we ask them for guidance, you know. Or what else am I supposed to do? What's my next step?

“So, there's a sense of relief that there are people out there that can advise you,” she added.

On that note, Rubee spoke about a recent outing with one of the MLDA members to attend a “kenduri” (feast).

The host lady is a mother of two children who also suffer from MPS II, but has no proper medication to treat them.

“I saw these two children who were on anti-epilepsy medication and that makes them very drowsy. They are in their own world - sitting quietly in wheelchairs.

“I felt sad seeing that. Then I asked myself, do people also look at my kids the same way?” Rubee asked.

Supernatural causes?

Rubee shared a story about what happened after her story was featured in a local Malay daily.

“I was actually in a meeting and then this person called me, and he said that your child is normal.

“He claimed that there is a ‘saka’ (spirit) and the ‘saka’ is listening to you. He's very happy listening to you,” Rubee said, adding she was naturally dumbfounded by the statement.

Whatever life has thrown at her, Rubee has emerged stronger. Initially seeking advice from others, she now has people coming to her for advice on how to take care of their child who is suffering from a rare disease.

“Whatever life gives you, there's a reason. If I didn't have children with special needs, I would not be as strong as I am now, and I would not be able to advise other mothers.

"There are a lot of other mothers that reach out to me because they don't know what to do, they don't know what to expect. It gives me a sense of comfort to give them a little bit of hope and to be strong because being strong as a mother is never an option.

"You do your best for your kids, and everything is for your children. I told my husband, no matter what, we stand by our children until the end. That's our job, that is our purpose,” Rubee said.

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