His life expectancy may be less than the average person's, but
Branden Lim's family are determined to make the most of his remaining
years.
It is a perfectly average domestic scene set around the family dining table.
Mother
Yap Sook Yee, 38, is keeping an eye on five-year-old Jaden to ensure
that he doesn't get so distracted by his iPad game that he doesn't eat
his lunch, and Branden, two, is demanding his father Edmund Lim's
attention by repeatedly calling out "Pa! Pa! Pa!" from his baby chair.
There are only two things to disturb this pretty family picture: the
nasogastric tube going into Branden's left nostril, and the two blue
support cushions tucked in snugly on either side to help keep him
sitting upright.
Life has not been easy for the Lims ever since
they discovered that Branden is suffering from a genetic disorder called
spinal muscular atrophy (SMA).
Unsuspected disorder
With
firstborn Jaden being a regular, healthy kid, and no known history of
genetic diseases in either family, Yap and Lim, 39, had no inkling that
they were actually carriers of a defective, recessive copy of the SMN1
gene.
This gene is in charge of producing a protein called
survival motor neuron (SMN), which, as its name states, is crucial for
the survival of motor neurons.
Motor neurons are nerve cells
located within the central nervous system, which control both voluntary
and involuntary muscle movement.
The lack of the SMN protein leads
to the early death of these motor neurons; and as neurons have very
limited regeneration capacities, this spells very bad news for the
affected person.
While carriers of the defective gene are not
affected physically, each offspring of two such carriers has a
one-in-four chance of inheriting two recessive copies of the SMN1 gene,
resulting in them developing SMA.
Warning signs
Yap shares that while her
pregnancy with Branden was normal, the first intimation that something
might be wrong came during his birth.
"When Branden was delivered,
he was immediately admitted to the NICU (neonatal intensive care unit)
because he didn't really cry - there was fluid in his lungs." she says.
Lim, a commercial manager with a multinational company, recalls
that Branden had to be put on continuous positive airway pressure
(CPAP) at that time, in order to help him breathe.
However, he
recovered enough to be discharged eight days later, although the doctor
advised that he be kept away from crowded places.
The next few months passed by uneventfully, until Branden reached three months of age.
Yap recalls: "He was able to turn at three months, but that was the first and last time he ever did it."
As
the months went on, Branden started missing more milestones, like
sitting up and crawling, but his parents thought that he was just a more
"relaxed" baby. He also developed trembling fingers.
Then, at five months, Branden's paediatrician found him to be hypotonic, ie his muscles had less tone or strength than normal.
"He said it was a general symptom, which could indicate multiple different conditions, from simple to complex," says Lim.
"Branden was then started on physiotherapy, which worked for awhile, but then, it stopped having any effect."
However, the alarm bells really started to ring when Branden was about a year old.
"At one year of age, he had only gained 100g (from six months)," says Yap.
Lim adds: "That was one of the key indications that something was wrong; he was missing more milestones."
It was then that Yap started researching Branden's condition, and soon realised that something was not right with him.
With
a few conditions in mind, she took Branden to his paediatrician, who
agreed with her on the possibilities, and referred them to a paediatric
geneticist. "He did multiple tests, then confirmed that the diagnosis
was SMA."
Immediate reaction
Initially,
Yap had kept quiet about the tests to Lim, as he was working in London
on an overseas assignment. But he arrived back in time for them to
receive the results together.
"It was like the whole house had fallen down around us; we were totally shocked by the diagnosis," he recalls.
And if that weren't bad news enough, three days later, Jaden came down with chickenpox.
Yap had to move with Branden to her sister's house as a quarantine measure, while Lim took care of Jaden at home.
This
meant that the shock and heavy weight of Branden's SMA diagnosis had to
be borne separately for the mother and father, on top of caring for
each son. "We went through the stages of grief separately," Lim shares.
Those 14 days of quarantine also gave them time to research the condition.
"We quickly signed up with Families of SMA, who reached out to us and sent us a care package on SMA immediately," says Lim.
Families
of SMA is an American-based non-profit organisation formed by parents
of children with SMA, which aims to support families affected by SMA,
and to fund research, which could lead to a treatment, and eventual
cure, for the condition.
They also decided to inform their family
and friends via a Facebook note and email of Branden's diagnosis. "After
all, we had nothing to be ashamed of," says Lim, who adds that sending
out that message also helped them to move on from their initial shock
and grief.
Emotional support
While medical help and
expertise were readily at hand, what Yap and Lim wanted was emotional
and practical support from parents who are, or have been, in their
position.
"We knew that time was not on our side; SMA is a genetic killer, so
we had to be really quick in finding other people who also have it.
"We wanted to reach out to other parents to learn from them and also, for emotional support."
Their paediatrician had told them about a local 16-year-old SMA patient, whom they were eager to get in touch with.
Coincidentally,
two days after they had posted their Facebook note, one of their
friends realised that she knew this girl and her family, and was able to
put the two families in touch.
"It gave us hope, to see someone with a fairly bad case of SMA, still able to live until her teens," says Yap.
Prioritising needs
The
scares were not over though, as Jaden contracted hand, foot and mouth
(HFM) disease about a month after his chickenpox, which promptly got
passed on to Branden.
Unfortunately, the disease hit the younger boy harder, and he had to be hospitalised for five days.
Following that, the Lims' Cambodian maid got a belated case of the chickenpox, and had to be sent off to Yap's mother's house.
"Our hearts never stopped beating really fast that whole time," Yap recalls, with a smile.
Their
maid's chickenpox fortunately, turned out to be the last of the two
months of bad news and domestic chaos, allowing them to finally settle
down and prioritise what needed to be done for Branden's condition.
Yap, who had worked part-time in the fashion and beauty industry
prior to Branden's birth, and had intended to go back to work after he
turned one, now gave up that idea to remain a fulltime homemaker.
Lim, being of practical mind, immersed himself in research for solutions to Branden's multiple problems.
SMA can be divided into four categories based on age of onset
of the disease, with Type I being the most severe form, and Type IV, the
least severe.
Branden's symptoms and age of onset place him between Type I and Type II.
At
his current two years of age, he is able to sit up with support, move
his arms and legs, and eat solids. However, he gets physically tired
easily, and does not have enough strength to press a piano key down.
Nutrition has been a major concern for Yap, as Branden is underweight for his age.
"That's
my biggest headache - I don't know if it is because he is in his
terrible twos, but because he can't talk properly, it's difficult to
tell if he is full or doesn't like the food," says Yap.
Lim adds: "We have to figure out what are the most 'power-packed' foods to give him, for example, juice versus water.
"And now that he's getting fussy, we have to figure out what he likes, which is also nutritious enough for him."
Like Yap, most people are unlikely to realise the sheer number of muscles involved in the digestive process.
From
chewing and swallowing, to the involuntary muscles that prevent food
from coming back out the stomach, and those involved in passing motion,
every muscle that participates in this process is affected by SMA.
Living in fear
Thus, Branden frequently gets constipated because he doesn't have the strength to push out his stool.
He also vomits fairly often, as the involuntary muscles of his
stomach are not strong enough to hold in too much food, which ends up
being regurgitated.
Because of this, aspiration pneumonia is a
major source of concern. In fact, pneumonia is one of the main causes of
death for SMA patients.
In aspiration pneumonia, food that is
regurgitated up the oesophagus gets diverted into the trachea and down
the lungs. Once in the lungs, it results in pneumonia.
Branden has
already been hospitalised for pneumonia once last August. That is where
he obtained his nasogastric tube, which his parents are using to
supplement his nutrition.
"We were so happy with the tube, but we
didn't know the flow rates. We thought that we could give him as much
milk as he needed through it, but then it all just came out again, like
the Merlion in Singapore," says Lim with a laugh.
"That's where
support is so important," says Yap. "We called a friend in Singapore who
is an SMA mother, and she advised us on the best way to use the tube."
Lim adds: "Maintaining his calorie intake, and trying to track whether he has silent aspiration, are our current priorities."
Continuing challenges
Breathing is another major concern for SMA patients.
While Branden can currently breathe on his own, he does need
help clearing out the secretions from his lungs, and his parents are
careful to monitor his oxygen levels both day and night.
However,
Lim acknowledges that at some point in the future, Branden may be unable
to breathe on his own, and will need some sort of mechanical
assistance.
A further complication is likely to be the onset of scoliosis, which tends to develop in SMA patients at the age of seven or so.
Branden's range of movement will also becoming increasingly limited, as he grows older and his muscles, weaker.
In
order to give him a shot at as regular a life as possible, he will need
items like custom-made wheelchairs, bath equipment and special
utensils; intensive and ongoing physiotherapy, occupational therapy,
speech therapy and hydrotherapy; and home-schooling, among others.
Lim
laments that while many of these things are provided for, and even
taken for granted in the United States, Malaysia is lagging far behind
in terms of appropriate and available home equipment, and educational
opportunities.
No insurance company here covers SMA, and while
medical treatment and adjunct therapies are available in public
hospitals for a minimal fee, the Lims have to provide for the various
equipment Branden needs at home.
And there is also his older brother, Jaden.
"The
other challenge is having a sibling - teaching him to care for his
sibling, and also, a lot of attention has to be given to Branden, so he
is also being challenged emotionally," says Yap, adding that they try to
allocate time for herself and Jaden, Lim and Jaden, as well as couple
time for herself and Lim.
Lim adds: "We always try to think of activities we can do as a family, things that Branden and Jaden can do together."
Thankful
They are also fortunate to have a good support system.
Lim says: "Family support is very important and so helpful. All we need to do is ask, and they will help us.
"Support from our friends has also been invaluable, although some have not known how to react to the news.
"My company and my boss have also been very understanding and supportive."
Even
their neighbours are very helpful, being ever willing to help provide
meals, or even lend their maid when needed, says Yap. (Their own maid
has returned to her country, and they now cope alone with the help of
Lim's mother, who stays with them.)
Because there are so many
bodily functions affected by SMA, which develop at different times, Yap
and Lim are focusing on one step at a time.
"We will follow Branden's development, and react accordingly," Yap says.
Although Branden may not live a normal lifespan, his parents are determined to enjoy him in the time that they have.
"We accept that it is not going to get any better, but we are going to make the best of it," she says.
"Branden
is such a happy boy, he brings us a lot of joy, and there's really a
lot to celebrate about him. We want to enjoy him in the present, as he
is."
SMA Facts
- Some basic information on the genetic disorder spinal muscular atrophy (SMA):
- It is a rare autosomal recessive disease affecting one in 6,000 - 10,000 individuals.
- It is the leading genetic cause of death in children under two years of age.
- Around one in 40-50 people are carriers of the defective SMN1 gene.
- There is no cure.
Type I (Infantile; Werdnig-Hiffmann disease)
Age of onset: 0 - 6 months
Characteristics:
-
Ususally exhibits floppy baby syndrome, a weak sucking reflex,
difficulty breathing and sucking, and is unable to stand or sit without
help.
- Has a poor prognosis, with most patients dying before two years of age from pneumonia-induced respiratory failure.
Type II (Intermediate Dubowitz disease)
Age of onset: 6 - 18 months
Characteristics:
- Has delayed motor development, usually unable to crawl or stand, but can sit unsupported.
- At higher risk of respiratory infections
- Often live into their teens, but with significant motor impairment
Type III (Juvenile; Wolhlfart-Kugelberg-Welander disease)
Age of onset: After 18 months
Characteristics:
- Characteristics: Symptoms can appear any time from 18 months to adolescence.
-
Can usually stand and walk independently, but may eventually lose these
abilities as their condition progresses. Fingers and hands may tremble.
- Life expectancy is near normal
Type IV (Adult)
Age of onset: Adulthood
Characteristics:
- Symptoms usually appear after the age of 35, although they can manifest as early as 18 years of age.
- The least common type of the disease.
- Shows progressive muscle weakness and tremours.
- Life expectancy is normal.
