S'pore sisters have genetic disorder that makes them tired and 'floppy'

SINGAPORE - Coping with a child's rare disorder is tough enough. Struggling with a mysterious affliction that hits not one but both your children while fighting your own battle with cancer is a nightmare.

But for Mrs Chang Li Nah, that nightmare was what her life was like. Every day, for 20 years.

It was a life packed with uncertainty. A life where she would be in her daughters' school, waiting.

When they needed help, she would go into a classroom to wipe saliva off one daughter's chin and go to another to rouse her other daughter from her deep slumber.

"Coping with one daughter with this disorder was hard enough, but coping with two often sapped the energy out of their father and me. We were lucky that our parents were on hand to help," said Mrs Chang, a 50-year-old housewife.

She suspected there was something wrong with her elder daughter, Lynn, when the child was just three months old.

Lynn started Primary 1 only at the age of nine, which is two years later than usual. Her sister Joyce started school even later, when she was 11.

Both suffer from a rare genetic disorder called Aromatic L-amino Acid Decarboxylase Deficiency (AACD), which would leave them extremely tired and "floppy"(flaccid) most of the time.

The girls' principal and teachers at Unity Primary School in Choa Chu Kang therefore made an exception for them.

Both girls were allowed to sleep in class, something other pupils would have been chided for.

However, Mrs Chang and her husband were adamant that their children attend mainstream school so they could lead "a life that is as normal as possible".

"The main problem with Lynn and Joyce was their fatigue. It's not like when you and I feel tired. It's more like a weariness, something you would describe as being bone-tired," Mrs Chang said.

Since their problem was physical and did not affect their mental faculties, both Lynn and Joyce attended mainstream schools.

At Unity Primary School, Mrs Chang would sit outside the classroom almost every day so that she could help her daughters to the toilet when the need arose.

Next     Mainstream schools

Mainstream schools

Mainstream schools

On how she knew there was something wrong with Lynn as a baby, Mrs Chang said: "She was very 'floppy' and could not hold her head up.

"She continued to be 'floppy' at the age of one year and I immediately started intervention therapy at the Margaret Drive Special School.

"It was very frustrating. Her doctor at KK Women's and Children's Hospital carried out a battery of tests - muscle biopsy, blood tests and different scans - but could not find anything wrong.

"Finally, she was given the diagnosis of global developmental delay."

This is the general term used to describe a condition that occurs during the developmental period of a child between his/her birth and when he/she is 18 years old.

It is usually defined by the child being diagnosed with having a lower intellectual functioning than what is perceived as normal.

When Mrs Chang was expecting Joyce, she hoped the younger daughter would not suffer the same fate. Unfortunately, Joyce, too, is afflicted.

Compared to her sister, Joyce's condition was more serious. She fell off chairs while sitting and it was initially thought that she would be wheelchair-bound.

As if that was not enough trouble, Mrs Chang was diagnosed with cancer in 2001. The girls were nine and 12 then.

Then an engineer, she lost her job when she informed her company.

"I was at a loss. I ended up looking after the girls 24/7 and friends assured me that I would eventually see the light at the end of the tunnel. What light? I only saw a very long dark tunnel then," she recalled, tearing.

"It was a trying time. We wanted to put the girls at a nursing home, but none here would take anyone below the age of 18 and the ones overseas were in bad condition.

Mrs Chang confessed: "At one point, I was so depressed I wanted to end it all."

Next     They're learning to canoe now

They're learning to canoe now

It was only after putting the girls at Camp Rainbow for three days and getting "some sort of reprieve" that she changed her mind.

"The house became so quiet when they were away that I started missing them and their happy chatter," Mrs Chang said.

Camp Rainbow is a yearly camp organised by Club Rainbow (Singapore), a charity to help children suffering from a range of chronic and life-threatening illnesses, and their families.

They're learning to canoe now

The turning point came in 2005, when Lynn turned 12 and was referred to the National University Hospital.

Suspecting that she could be suffering from AADC, paediatric neurologist Stacey Tay performed a spinal tap and sent the fluid to the US for testing.

"This is a very complex test performed in only several accredited clinical labs in the world," Prof Tay said, adding that some mild cases may be treatable and better mobility can therefore be achieved earlier.

Within three to six months of diagnosis and treatment, the Chang sisters were "walking better and did not need their wheelchairs", Mrs Chang recounted.

"According to Prof Tay, because of the rare nature of the condition, the amount of medication administered was on a trial-and-error basis. Sometimes more, sometimes less, and it took a few months to see how they responded," Mrs Chang added.

Joyce even managed to move from a special school to a mainstream one.

Around the same time, Mrs Chang also read in a magazine article that therapy in China could also help.

Not wanting to leave any avenues unexplored, she got in touch with the Chinese physicians concerned and took her daughers to China, doing so with the blessings of her husband and Prof Tay.

Mrs Chang said: "It was the year that Lynn was sitting for her PSLE and we applied to have her exempted. We were there for 2½ months. The treatment was intensive and painful, especially for Joyce. But I'm glad that I took that chance. Look at my girls now."

For Joyce, who has a club foot (a congenital foot deformity), which seemed to be rotated internally at the ankle, walking was near impossible.

Next     Painful therapy

Painful therapy

"But the intensive and painful massage therapy in China helped. She was able to walk after we took her there," Mrs Chang recounted.

The girls can now go through a day without having to nap and are even learning to canoe.

Today, Lynn is 22 and studying at Republic Polytechnic and Joyce, 19, is finishing her secondary school education at Unity Secondary.

They also attend Toastmaster classes on weekends and volunteer at the Asian Women's Welfare Association by packing goodie bags and giving lessons to children.

The 'floppy' disorder

The Aromatic L-Amino Acid Decarboxylase Deficiency (AADC) is a rare metabolic disorder characterised by the lack of the AADC enzyme.

This causes flaws in the brain's neurotransmitters and results in movement abnormalities.

The head of the National University Hospital's paediatric neurology division, Associate Professor Stacey Tay, said symptoms of the disorder include periods of weakness or fluctuating motor ability, dystonia (involuntary movements and extended muscle contractions), developmental delay, drooling, sleep difficulties and irritability.

AADC is known as an autosomal recessive disorder, where both carrier parents have a one-in-four chance of having an affected child. AADC affects both sexes.

Prof Tay, who has been treating the Chang sisters since 2005, added that this disorder may be diagnosed as global developmental delay or cerebral palsy.

Their life through their eyes

The girls' lives, shown through their own photography, is showcased at an exhibition that will run until Aug 10. Called Project Dreamcatchers 2014, it provides a peek into lives filled with medicine, treatments and hospital stays.

The photographs are displayed at the de Suantio Gallery at the Singapore Management University's School of Economics and Social Sciences.

Admission is free.

This article was first published on July 28, 2014.
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