This time last year, the ALS Ice Bucket Challenge was all the rage online. People were dumping a bucket of ice-cold water on their heads everywhere, regardless of whether they understood or supported the cause. Still, the campaign succeeded to a certain extent in raising people's awareness of the neuromuscular disease.
But the icy phase faded quickly along with people's interest in the illness that they might not have realised that amyotrophic lateral sclerosis (ALS) is only one type of neuromuscular diseases.
Neuromuscular disease is a collective name that encompasses various diseases. It deals with the malfunctioning of muscles and nerves. The main cause of this disease is genetic, which makes up 60-70% of children who suffer from this ailment. Other causes are through infection and auto-immune disease.
Examples of the neuromuscular diseases are Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), myasthenia gravis (MG), Charcot-Marie-Tooth disease, and of course ALS -- all of them associated with progressive degeneration of muscle, muscle weakness and decreased muscle size. Symptoms can start at birth and there is no defining age gap or safe zone. It can develop at any age depending on the specific disease.
Some of the diseases result in muscle weakness, which will slowly occur throughout the body -- limbs, face, chewing, swallowing, and eventually affect respiratory and cardiac muscles. Most patients slowly develop an inability to walk and are wheelchair bound. Further complications may result in infection and heart failure. Many patients have a low life expectancy.
There is no cure for genetic neuromuscular disease. And prevention is mostly improbable as genetic testing is costly -- not applicable when there are more than 100 genes to be tested.
"You can only prevent it from happening to your next child through genetic counselling with the medical team," said Asst Prof Dr Oranee Sanmaneechai, neuromuscular paediatrician at Siriraj Hospital. "You can never tell who the carrier of the bad genes is -- the mum, dad or both. You can only tell once the child starts showing symptoms."
Clinical trials, physical therapy and rehabilitation are available to ease the child's difficulty. Only supportive care is available to minimise future complications. It is a cruel disease as the entire body is affected -- except the mind. A child as young as three years old could start developing symptoms, making walking difficult.
But don't panic, said Dr Oranee. Such incidents occur in one out of 10,000 children. Comparatively, the number for Down's syndrome is one in 600 children.
Theoretical physicist Stephen Hawking is perhaps the best-known ALS sufferer.
"We don't know the exact prevalence in Thailand as not all patients register at the hospital. But for the past 10 years at Siriraj Hospital alone, we've had around 500 children, as well as 200-300 ongoing cases."
Dr Oranee is also a part of the Foundation to Eradicate Neuromuscular Diseases (Fend) -- a newly-formed organisation aimed at supporting children and parents who are affected by the neuromuscular disease, as well as research to further knowledge. There are plans to bring together patients and make them a part of the community and increase their quality of life.
"You can try sitting on your hand for five minutes. It may give you a numbing sensation and restrict your hand movement for a while -- just to get a glimpse of what the patients are going through. But for these kids, they don't experience it for five minutes. This condition stays for the rest of their life," said Dr Oranee.
When a child is diagnosed with a neuromuscular disease, "we explain them about muscle weakness first, but we don't tell them right out that they won't be able to walk in five years", she said. "Meanwhile, we also try to encourage and steer them towards activities that don't require a lot of movement -- like arts or math.
"Their muscles weaken with time. The process is slow, taking years to develop, and the children adjust to it. If they do something they're good at, it won't bother them as much and they won't lose confidence when unable to walk."
Unfortunately, society's perception and attitude towards those suffering from the disease is not all positive. Dr Oranee said she knew of a patient who wouldn't wear the orthopaedic braces on her legs when she went out even if it helped her to walk better. "She said she felt embarrassed and her friends teased her."
This, according to Dr Oranee, says that society still doesn't fully understand and accept these children. "Imagine if that girl was in a wheelchair, she wouldn't leave the house out of fear of being teased."
It also affects the parents as many still think it's an embarrassment to have a child in a wheelchair. Many stop taking their children outdoors or even to school.
According to Dr Oranee, Thailand is not very supportive towards children suffering from neuromuscular diseases, especially in terms of facilities and public services. The country may be on par globally in terms of medical standards, but hospitals alone can't give these children the same quality of life as those living in Western nations where their disabled citizens can travel alone using power wheelchairs.
They can get on buses and enjoy almost full autonomy. In Thailand, it would be hard to even cross the street.
"Even if they're fortunate enough to own power wheelchairs, there is no slope on our streets," she said. "Only a few BTS stations have elevators. Our public transport system has no space for wheelchairs. While our society doesn't despise these children, they don't understand what these youngsters and those who suffer from this disease need."
But even if there is no cure for the disease, Dr Oranee is of the opinion that any assistance which aims at improving the quality of life of these kids is crucial. If the children are well taken care of, there's less chance of future complications like heart or respiratory failure. And overall equipment to aid their daily life still costs less compared to being hospitalised multiple times throughout their lifespan. It ends up saving money for parents, hospitals and governments.
