Azhar Talib and Norliza Mohd Din were delighted when their fourth child was born in 2000.
Nur Lydia Afrina was a picture of contentment as she slept most of the time and never cried.
But she was very “floppy” (medically referred to as hypotonia or low muscle tone) and did not know how to suckle.
Ten days after being born, she turned blue and was rushed to the hospital.
The paediatrician suspected she had Prader-Willi syndrome (PWS), a rare genetic disorder that results in a number of physical, mental and behavioural problems.
In infancy, this condition is characterised by hypotonia, feeding difficulties, poor growth and delayed development.
PWS is caused by the lack of, or defect on, critical genes located at a specific section of chromosome 15 that is inherited from the father.
As there was no facility for genetic testing then, Azhar and Norliza didn’t know what to expect.
Nur Lydia ended up being warded for three months.
“I looked at my wife and asked, ‘I think we have a special kid, do you accept her?’
“She said ‘Of course, our duty is to care for our family, but first, we have to look after ourselves’,” recalls Azhar, 53.
Thus began their journey of looking after Nur Lydia, or Aisha as she is affectionately called.
Worldwide, there are over 300 million people living with one or more of over 6,000 identified rare diseases.
The majority (72%) of rare diseases are genetic, while others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
Most (70%) of the genetic rare diseases manifest during childhood.
In Malaysia, the disease is referred to as rare disorders, and is considered rare if less than one in 4,000 people in the community have it.
Based on data from the Malaysian Rare Disorders Society, there are about 60 types of these rare disorders that have been diagnosed in Malaysia.
Every day is a challenge for parents of children with rare diseases.
The lack of scientific knowledge and quality information on the disease results in a delay in diagnosis.
Further difficulty in access to treatment and care often leads to heavy social and financial burden on patients and their caregivers.
“We were lucky as the specialist was able to diagnose (the disease). We learnt from each other.
“Still, I had to search all over the world for information and support groups to learn how to deal with Aisha.
“Unfortunately, her symptoms are the most severe of all Malaysian (PWD) patients.
“Many times, we came close to losing her as she underwent several surgeries.
“She cannot talk or walk, and her body is filled with scars from various procedures over the years.
“When she sees a man in white robe (like a doctor’s coat), she will cling to me because of the trauma.
“The doctors tell us she is their strongest patient because of the difficult journey she has gone through,” says Azhar, who is president of the Malaysia Prader-Willi Syndrome Society, which currently has 114 patients as members.
The oldest living PWS patient in the world is 55, while in Malaysia, it was 35. This patient has since passed on and the oldest Malaysian PWS patient is currently 26.
A key feature of PWS is a constant sense of hunger that usually begins at about two years of age.
They want to eat constantly because they never feel full (hyperphagia), and they usually have trouble controlling their weight. Many complications of PWS are due to obesity.
Says Azhar, “We have to monitor Aisha 24/7 because she keeps foraging for food. Some parents lock the refrigerator or put a grill at the kitchen door.
“As a family, we also have to be disciplined. In the early days, we never ate in front of her.
“Though she can eat by herself, someone has to feed her to ensure portion control.
“And because choking is a hazard for PWS patients, we have to give her softer foods.”
When Aisha throws a tantrum, she hits her head on the wall or rips her clothes off.
Her screams vary in tone and pitch; the family of seven (they had another daughter after Aisha) understand her language and immediately know what she wants.
“She is more attached to me as my wife is the stricter one. I need to hug and kiss her daily or she will throw a tantrum.
“Our biggest challenge is someone needs to be with her all the time, especially when she is awake.
“By 7pm, we make sure the lights are turned off in the area she is in so that she will go to sleep,” he says.
Norliza eventually resigned from her job to look after Aisha full-time, but like all parents, the couple worry about what will happen to her when they are no longer around.
“Over the past 20 years, we have taken turns to work, so there is a substantial loss of income.
“It is financially draining, but with the (Malaysian PWS) society, there is a support network to help us cope emotionally and socially.
“My aim is to have a PWS house where the children and their caregivers can spend time, and maybe do something to generate revenue,” shares Azhar.
Like Azhar, Mohamed Nor Abdul Hamid, 69, and wife Saleha Lajim, 71, were looking forward to welcoming their youngest child into the world.
“Compared to my previous two pregnancies, my stomach (abdomen) was very small, and at seven months, I suffered strong contractions, which threatened to abort my baby.
“I was hospitalised for a month, and when I had a breech birth at 38 weeks, the paediatrician recognised that something was wrong with my baby’s facial features,” recollects Saleha.
The year was 1987, when mothers weren’t immediately shown the baby after delivery.
Fathers were not allowed in the labour room in public hospitals, either.
“My sister was also a paediatrician and the doctor told her before telling me,” she says.
Chips in Mohamed Nor, “When I saw Lina for the first time, her body was covered with hair and she had low set ears; something was not right about her facial expression.
“The doctor showed me a small paragraph from a medical book that described the disease, after which I was seeing stars. I was badly affected.”
Thankfully, Saleha’s sister wasted no time in getting Lina assessed, which led to her diagnosis: Cornelia de Lange syndrome.
This rare condition is characterised by slow growth before and after birth, leading to short stature, intellectual disability that is usually moderate to severe, and abnormalities of bones in the arms, hands and fingers.
“We sought a second opinion and I could’ve killed this doctor because he was so rough in handling Lina.
“He told me to concentrate on my two other normal kids because this one wouldn’t live long.
“Everything he said was negative. I went home, popped a few painkillers and slept for 24 hours,” says Mohamed Nor.
He eventually went to the Universiti Malaya library and found seven articles on the disease – one of which was in Japanese and had to be translated.
Years later, his brother was at a hairdressing salon in London and stumbled upon a support group that was featured in a magazine.
“We began from ground zero. In the early days, people made unkind remarks because Lina has a somewhat simian resemblance,” he says.
Early intervention and going to a special needs school until she was 20 helped.
Lina is able to sight read, say a few words and use sign language to communicate. She can also swim and play computer games.
Saleha says, “We were fortunate because we are better off in terms of education and finances, compared to other parents.
“Lina has developed quite a bit because I was younger and had more energy then.”
However, Lina, 32, has regressed lately.
“She’s in this baby phase. She keeps saying ‘I want baby!’ and wants me to put a child on her lap.
“I’m fearful of taking her out because she is strong and can overpower me when she throws a tantrum.
“When she sees my grandson who is eight years old, she’ll insist that he sit on her lap.
“She’s rough and will pull his hair, and he doesn’t like it,” shares Saleha.
She adds that Lina also does not want to read or feed herself now.
While their older children are married and have their own kids, the couple try to include them in caring for Lina.
Mohamed Nor says, “Our social activities are limited because we take care of Lina ourselves. We try to get at least a two-hour respite daily.
“We’re still thinking of how to secure our future and hers.”
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