SINGAPORE — First, the vision problems. Then, regression of motor skills such as handwriting and climbing of stairs.

Within months, Phua Wenjie, a once-active and bubbly boy, had deteriorated to a point where he had trouble walking, talking and feeding himself.

He was around six years old when he started experiencing a host of mysterious neurological symptoms that led to a devastating rare disease diagnosis in 2014.

The boy has X-linked adrenoleukodystrophy (ALD), a rare and life-threatening genetic disorder that has ravaged most of his cognitive, mobility and physical functions.

The rare disorder affects the white matter of the brain, spinal cord and adrenal gland.

Patients can have serious neurological symptoms, losing their vision, cognitive function, mobility, hearing as well as certain hormones.

As the disease progressed rapidly, Wenjie’s family members could only watch helplessly as their loved one became a shell of his former self.

Now 14, he is entirely dependent on others for his daily needs and survival.

Based on international statistics, ALD is estimated to affect just one in 10,000 to 17,000 people.

The National University Hospital, which manages Wenjie’s condition, sees around one of two such new cases each year.

When TODAY interviewed the Phuas in 2016 for an article on how people may help children cope with grief, the family was already struggling to come to terms with Wenjie’s illness.

Back then, he was placed on palliative care and was not expected to have much time left with the family. 

His older sister Wenxin, now 16, had trouble processing her sadness at the time. Wenjie also has a younger brother, Wenze, now aged 10.

Six years on, with his family’s around-the-clock care, love and support, Wenjie’s condition remains “stable”. He was discharged from palliative care in 2019.

Although it is not known how much time he has left, hope and love have sustained the family in the past eight years.

The Phuas have also found ways to turn grief into purpose.

Having experienced the hardships of caring for a loved one with a rare medical condition, they have been involved in advocacy work to raise awareness and empathy for families living with patients who have rare diseases.

Mr Phua Wee Seng, 47, who gave up his business just before the Covid-19 pandemic to care for his son full-time, said: “Our love and hope for Wenjie are as strong as from Day One. We are just grateful for each day that we have with him.”

GOING INTO A VEGETATIVE STATE

Mr Phua recalled the shock and anguish they felt when Wenjie was first diagnosed in 2014.

“The name (of the disease) is so long and we didn’t know what it was. But we knew that something terrible has come up,” Mr Phua said.

“When we watched Wenjie losing his functionality, my wife and I broke down and cried every night after putting the children to bed.”

Wenjie’s mother, Madam Yeo Kheng Hui, 47, said that she kept asking herself if she had caused her son to be this way.

“I felt I was the one who had passed the (genetic) condition to him. It was only later that we found out it was due to a mutation during pregnancy,” the civil servant said.  

ROUND-THE-CLOCK CAREGIVING

The disease usually takes a significant toll on families and caregivers.

Associate Professor Stacey Tay from National University Hospital (NUH) said: “Caregiving is 24/7 and is physically intensive. Many patients require a feeding tube or gastrostomy, and they may need regular suctioning to help clear secretions as they have difficulty swallowing even their saliva.”

They will also require complete care for basic needs such as toileting and bathing.

Often, equipment to support the patient and daily care needs is also required and they can be costly. For example, customised wheelchairs to help prevent bed sores and scoliosis (curvature of the spine) and equipment to support breathing and suctioning.

Assoc Prof Tay is a senior consultant at the division of paediatric neurology and division of paediatric genetics and metabolism at NUH’s Khoo Teck Puat – National University Children's Medical Institute (KTP-NUCMI).

She said that NUH works with community support organisations such as Starpals, a paediatric hospice organisation that can provide emotional support as well as practical help such as visiting nurses and doctors.

“Patients with greater care needs may also be taken care of by our KTP-NUCMI Home Care Team. There is also the NUH Children’s Liver and Rare Diseases Fund, which provides financial assistance to NUH KTP-NUCMI patients,” she added.

Community organisations, such as Rare Disorders Society Singapore and Club Rainbow, also offer some financial help as well as social and emotional support for affected families.

GAVE UP BUSINESS TO BE FULL-TIME CAREGIVER

After taking a hiatus from his business in 2019, Mr Phua has been juggling the role of a full-time caregiver and engaging in advocacy work.

He talked about his caregiving experience at the Rarity to Reality rare disease virtual forum on Feb 28. One of the topics covered was the existing challenges that patients and their families face.

Mr Phua said that there is a lack of services providing caregiving options and respite care for families with complex medical needs.

He decided to stop working to “stabilise the home front” after the family’s domestic worker, who has been caring for Wenjie for more than a decade and is deeply attached to him, expressed her wish to retire.

However, the difficulties they faced in finding another suitable worker meant that she delayed her retirement.

Two people are required to care for Wenjie.

“In a household with a member who has a rare disorder, it is not uncommon to have one working parent and another one staying home to look after their child,” Mr Phua said.

It was decided that he would be the one who stayed at home because his wife’s job is more stable.

“My wife is also more emotional (when caring for Wenjie). As a guy, I tend to be less emotionally charged although I care. But it’s definitely been a struggle because societal stigma is still there,” Mr Phua added.

“It’s also rare to have a fathers’ support group. Most support groups are predominantly made up of mothers. However, the rare disease community is very small and everyone is supportive as we know the challenges.”

One of the greatest challenges he faces is fatigue while caring for his son around the clock. There is also the constant fear that they are not doing “enough” for the boy.

Every day, Mr Phua wakes at 1am and 4am to change his son’s diapers and manages a six-hourly feeding schedule via a feeding tube.  

They also do physiotherapy exercises and regular suctioning to help Wenjie clear build-up of saliva and secretions since he has difficulty swallowing.

“In between, we feed him medicine, natural juices, massage him, play music for him and do play therapy to help him.”

Mr Phua also has to be on the lookout for any sudden changes in his son’s condition. For example, unexplained bouts of fever or when he suddenly chokes on his own saliva. 

WORRIES ABOUT RISING COSTS, THE FUTURE

Another challenge the family faces is the lack of financial support.

Being in in the “sandwich class” — or the middle-income segment that has to support young children and older parents — Mr Phua said that they could not qualify for any financial assistance scheme like the low-income group and they do not have any subsidies when caring for Wenjie. 

“We are managing on our own.”

He estimated that they spend a five-figure sum every year on Wenjie’s medical needs.
They have been fretting over the rising cost of medications and medical supplies.

“There are many children with medical needs who are dependent on machines. Then there are also the consumables like alcohol swabs, syringes, tubes.

“We try to reuse some of the consumables although we should not.
For example, we sterilise the syringes but there are only so many times you can sterilise a syringe before it goes out of shape,” he said.

There is also anxiety over what the future holds.

“We are doing well right now caring for Wenjie, but we are also growing old. What happens when we are old?

“I certainly do not want (Wenjie’s care) to fall on his siblings if I could.

“It’s not that they are not willing as the whole family love Wenjie to bits. But as a parent, I want to plan it in such a way that I do not pass that burden to them as they’ll have their own careers and family.”

AN UNSHAKEABLE FAMILY BOND

It is evident that the family is a close-knit one.

Wenjie’s siblings spend time with him every day, by singing and entertaining their brother by playing the flute, for instance.
As a family, they go on walks together during the school holidays.

On whether Wenjie knows whether his siblings are engaging him, Mr Phua said that his eyes are able to follow the direction of sounds, for example, whenever his brother dribbles the football at home.

On her part, Wenxin – the oldest of the Phua siblings – has been active in the rare disease advocacy scene, giving her time to raise awareness of rare disorders within the youth community.

The junior college student told TODAY: “Back in 2016, I was very sad and depressed.

“I kept wondering, ‘Is he going die soon?’ or ‘Have I done a lot of bad things to him when he was well?’. Over time, I learnt to focus on the present and ask myself, ‘What can I do for him?’”

Wenxin is considering a career in paediatric neurology. She hopes to conduct research to learn more about the rare genetic disorder affecting her brother.

For now, the Phuas want to treasure the time they have with Wenjie.

“We hope to build more beautiful memories because we do not know how much time we have with him,” Mr Phua said.

Having experienced caring for a child with a rare disease, Mr Phua and Mdm Yeo said that parents and caregivers with special needs children should not to be too hard on themselves.

It is also important to reach out to various organisations and groups to seek support so that they feel less lonely.

“There will be a lot of guilt, frustration. You will keep questioning yourself whether you are doing enough, so it is important to be kind to yourself. Know that the kids will feel the love you have for them,” Mdm Yeo added.

And when the obstacles seem insurmountable, look to love to find a way, they said.

“Be confident, because your love for your child will lead you to find ways to care for him or her although it is not going to be easy and smooth-sailing”, Mr Phua said.