On December 23 last year, Yap Sook Yee, 42 and her husband Edmund Lim, 43, received the best Christmas “gift” – news of a newly-approved drug which could treat spinal muscular atrophy (SMA). It brought them joy and hope for it could improve their son’s quality of life.
Their seven-year-old son, Branden, was diagnosed with SMA when he was a year old, and isn’t able to sit or stand without support. He needs constant care and a combination of physical and occupational therapies to help him maintain function and mobility as the disease progressively weakens him. He wears a brace to support his spine and goes on a Cough Assist Machine daily to help him expel phlegm from his chest as he isn’t strong enough to do it on his own.
The new drug, nusinersen, could give Brendan a new lease on life.
But the “miracle” drug costs a fortune: US$750,000 (RM3.2mil) for the first year and US$350,000 (RM1.5mil) a year subsequently. At the moment, it is being administered only in the United States and Europe but the determined couple is hoping to garner enough support to lobby for it to be brought to Malaysia to treat children and adults with the deadly disease.
“It’s the third most expensive drug in the world right now but it’s the only drug in the market for SMA. We are trying our best to advocate for clinical trials at our hospitals,” says Lim.
While the drug isn’t a cure, it can alleviate or delay symptoms of the debilitating disease, which progressively robs patients of muscle control, leaving them unable to walk, talk, swallow, cough and eventually, breathe on their own.
There are four types of SMA. The severest, Type One, is usually diagnosed in the first six months of an infant’s life, and the survival rate is below two years. About 60% of all SMA cases fall under Type One. (See sidebar)
Branden was diagnosed with SMA Type 1b and doctors said his muscle strength would weaken progressively in time.
He has missed many developmental milestones other children take for granted; he has never been able to roll over, crawl or walk, and he sits up with the support of his brace in a custom-made wheelchair.
“We cannot afford to delay doing something because children with SMA only have a certain number of years (to live). This drug will help them fight their battle and have more time. It will give them an opportunity.
“But we can’t do it alone. We are trying really hard … talking to doctors, to corporations and all the various stakeholders to get on board with this,” explains Yap.
The couple was in Singapore early this week for the 16th Asian and Oceanian Mylogy Centre’s annual scientific meeting to share their experience in caring for Branden. While there, they met with healthcare consulting groups and Biogen, the company marketing the new drug, to explore possibilities of making it accessible to Malaysian SMA patients.
They also have a petition going – initiated by Aishah Roose, 20, who has SMA (Type 3) – to urge the Health Ministry to bring the drug in.
Lim and Yap are painfully aware that bringing the drug into Malaysia may take a long while. But they are determined to keep at it.
In the meantime, they have made it their mission to advocate for families affected by SMA through their non-profit organisation, We Care Journey.
Handle with care
Caring for a child with SMA requires round-the-clock attention. Lim and Yap have quit their jobs to focus on giving their second-born the best life he could possibly have without neglecting their eldest son, Jaden, who is 10.
“I don’t want to wonder later on if I’d done the best for either of them. We’ve had to change our lifestyles quite a bit and do things differently, but that’s a small price to pay,” says Lim.
Branden has defied the odds in many ways, mostly because of his parents’ relentless efforts to give him the best care they could find. He is cheery and talkative, with an infectious megawatt smile. He reads and paints and goes to a kindergarten two days a week. On another two days, he video calls his school from home.
“When Branden was diagnosed with SMA, we were devastated and lost. We didn’t know what to do, where to go or who to talk to. But we knew that time wasn’t on our side as the average life expectancy for a child with SMA Type 1 was about two years. We knew that we needed to accept his diagnosis really quickly and do as much as we could for him.
“We focused on finding out where we could get him the best care. We started reading about the disease. An organisation abroad mailed us a care package with information on how to care for our son,” shares Yap.
They have continued to learn about SMA and caring for Branden. Most of their information are from foreign sources as there is little on the services and products available locally for children with SMA.
Their experience prompted them to set up We Care Journey – a non-profit organisation to empower and help families with SMA cope.
“We started We Care Journey to provide a platform for families to get information, ask questions, get support and encouragement. After Branden was diagnosed, we read many online stories of children with SMA who had lived past the two-year mark and were doing very well. This gave us hope and we want to share this hope with other families,” says Yap.
The four pillars of We Care Journey are connecting families with SMA and other disabilities to care and support, creating awareness, promoting responsibility and empowering affected families.
Through We Care Journey, Lim and Yap hope to increase the standard of care for SMA. With funds they sourced from the public, We Care Journey has started loaning out medical equipment to needy families.
Five-year-old Muhammad Hazim Mohd Hafiz, who was diagnosed with Type Two SMA, is one of the recipients of a Cough Assist Machine.
Children with SMA usually need help breathing as their respiratory muscles are weak, and they contract pneumonia easily. Hazim has been admitted to the hospital 10 times because of pneumonia.
His mother, Nurul Nadia Abdul Rahman, says the Cough Assist Machine has made a vast difference in Hazim’s well-being.
“We received it in March and it has helped clear his lungs. His breathing used to be noisy but he now breathes easier,” says Nurul Nadia, 32, who lives in Sungai Petani, Kedah, where there is no respiratory specialist.
Nurul Nadia found We Care Journey when she went online to seek help when her son was first diagnosed with SMA. The Lims have helped Nurul Nadia and her husband, Mohd Hafiz Mohd Hanif, cope with the challenges of caring for their son.
“They really helped me. The doctors kept telling us how hard it would be … how his condition would just get worse. I was desperate to know how I could help Hazim. Sook Yee told me all that she has been doing with Branden and how he has progressed and this really inspired me. I felt I could do it too.
“I quit my job and focused on caring for my son. This kind of support is crucial for parents of children with SMA. Support is really lacking here, especially for families who cannot afford to stop working. What do they do?” says Nurul Nadia, who is a trained engineer.
Prevention and early diagnosis
In Malaysia, about 50 babies are born with SMA every year. One in every 50 persons is a carrier and in most cases, they do not know it. Carriers of the defective gene are not affected and have no symptoms of the condition. But if a couple are both carriers, their offspring has a one-in-four chance of inheriting two recessive copies of the SMN1 gene which will result in them developing SMA.
Although it is a relatively rare disease, Lim and Yap believe that prevention is key.
“SMA should be a standard test that couples take before they decide to start a family. Currently, many check for Down’s Syndrome and Thalassaemia.
“No parent wants to pass any disease to their child. If they know they are both carriers, there are ways to ensure their babies do not develop SMA,” says Lim.
Creating awareness among the public is also crucial.
“If people know the statistics, they will realise how important it is to get tested,” he says.
Early diagnosis is important too. Because of the lack of awareness about SMA among health caregivers and the public, diagnosis is largely delayed. Developmental delays are often brushed off because “some children develop slower”.
It took several visits to several paediatricians before Branden and Nazim were diagnosed with SMA.
“We need to increase awareness and encourage primary care clinicians to test for SMA when they come across children and infants with the symptoms of the disorder. Parents who are aware can also ask for tests to be done,” shares Lim.
Malaysia also needs more advanced care and palliative care services for SMA patients. Families need to be supported and educated not only about the challenges of caring for an SMA patient but about all the things they can do to make their child’s life better.
“We were told by doctors that caring for Branden was going to be very tough … that we should focus on our healthy child.
“There is really very little support. It is challenging. It is hard and parents need to know this, but they should also educate parents on what they can do,” says Lim.
Recognising the signs
Spinal muscular atrophy (SMA) is a rare, debilitating genetic disorder; a neuromuscular disease that affects the part of the nervous system that controls voluntary muscle movement.
It affects a person’s muscular development and the severity depends on the type of SMA one has.
The earlier the symptoms are noticed, the more severe the condition is.
Type One (severe)
• Affecting children in the womb or shortly after birth (within six months).
• Infants will have severe muscle weakness, poor swallowing reflexes and difficulties breathing.
• 95% will not live past their second birthday.
Type Two (Intermediate)
• Begins to affect children between six and 18 months old.
• Symptoms include failure or delays in meeting motor milestones.
• Can sit up but cannot walk.
• Shortened life expectancy.
Type Three (Mild)
• Begins to affect children as early as 18 months or as late as adolescence.
• Children are initially able to stand and walk but will grow weaker and many need to use a wheelchair.
• Chewing and swallowing may be affected later.
• Normal life expectancy.
• The adult form of the disorder.
• Symptoms start after 35 and slowly get worse over time.
• Because it develops slowly, many people don’t know that they have it until years after symptoms begin.
• Life expectancy is normal.
We Care Journey is organising Ride for SMA, a Wheelathon on December 31 to raise funds for families with SMA and raise awareness about the disease. Their theme is “Where there’s a wheel, there’s a way”, and it is open to everyone. Come in your bicycles, skates, roller blades, wheelchairs or scooters. To register, go to wecarejourney.org. For more information, contact Poh Choo at 012-278 0339 or Eric Yap at 012-323 8085.