Singapore’s butterfly children, born with ‘the worst disease you’ve never heard of’

SINGAPORE: Mr Mohammad Shanwaz had never carried a baby until his son was born. Taking in that moment as he cradled his newborn, he then felt something peeling off on his fingers.

It was skin – coming off the back of his son’s neck entirely.

His wife Nurzeehan Abdul Halim did not even get to hold her son. The first thing she saw after her caesarean was the look of shock on the faces of her surgeon and anaesthetist. She thought her baby was handicapped.

Little Muhammad Raed spent a month in the intensive care unit. He was on morphine for far longer.

Ms Nurzeehan, 27, cannot begin to describe the pain the couple felt, let alone the pain her baby was in, except to say: “(He) wasn’t like a child (but) like a skinless chicken. It’s just that he was my son.”

Raed, who will be three years old in a few weeks’ time, was born without skin on his back, hands and lower limbs. He is one of Singapore’s butterfly children.

“The term ‘butterfly children’ is used because the wings of a butterfly are very, very fragile,” said KK Women’s and Children’s Hospital senior consultant Mark Koh, who heads its dermatology service.

It’s the same way how their skin responds to mild trauma. The skin comes off, just like a butterfly’s wings.

This inherited genetic condition known as Epidermolysis Bullosa (EB) has also been called “the worst disease you’ve never heard of”, and there are about 80 to 100 individuals in Singapore living with it.

Patients with very severe forms of EB can die in infancy or early childhood. Or as their skin – unable to withstand normal wear and tear – gets wounded over and over again, the cells can eventually become cancerous.

There is no known cure, only the possibility of progress towards treatment. But amid their struggles, hope abounds in the families living with EB who were featured on the Channel NewsAsia programme, Butterfly Children. 

To them, every little triumph counts. (Watch the episode here.)

‘PAIN, MAMA’: ONE OF THE SEVEREST CASES

In the home of Raed’s family, the love and laughter that fill it up also get them through the difficult moments, which happen every day as he is bathed and his dressings are changed.

“If it’s painful, what are you going to say?” his mother asks him. “Pain, Mama,” he replies softly.

She must be gentle, as the “slightest friction could tear (his) skin”. She must also prick his blisters and drain the fluid so that they do not develop into larger wounds.

Dressings must then be applied so that there is no trauma caused by a shift of the skin. Careful as Ms Nurzeehan is – and she is a nurse – she still hears the plaintive words “Pain, Mama”.

Raed has one of the severest cases of EB here, according to Dr Koh. The boy was born into a family who did not have the condition, although both his parents had the gene. And the mutation developed in him.

After he went home for the first time, he fell sick and needed to be re-admitted to hospital for two to three weeks. He had a resistant bug that was growing, and he needed intravenous antibiotics.

“Because his skin was so fragile, it was extremely difficult to get any intravenous plugs in him,” said Dr Koh. “You can just imagine how difficult it was to hold the dressings in place (and) keep the plugs in place.”

Once Raed could return home, bath time then became a painful part of his early life. The water would turn red from his raw flesh, and he would scream, said Mr Shanwaz.

Each day after work, his wife took four hours to bathe their son and dress his wounds. And it required four people to be there. Ms Nurzeehan said:

The moment we carry him from the bath, we have to be really quick because … there’d be drops of blood trickling down.

“My helper would be the runner (to do) whatever we required. My mother would be there to pin the baby down. And then we needed, for example, my niece who distracted him with songs or other kinds of animation.”

Skin eventually formed on Raed’s lower limbs by his first birthday. And he has come a long way since the day he was born, his father said.

Ms Nurzeehan is now starting to even ponder the question of whether her son’s condition will allow him to attend preschool down the line.

WATCH: Raed’s story ()

SUFFERING QUIETLY, SO NO ONE WOULD KNOW

One parent who knows a thing or two about nursing a child with EB through her schooling years is Dr Ritu Jain. She has seen her daughter Ira, 18, “suffer quietly” with the disease.

“The most challenging part, I think, came when she was about four years old, when she had to give up her stroller and start walking. She’d inevitably have blisters,” recalled Dr Jain.

“So we bought her a bicycle and taught her to cycle before she was five years old. And she’d get some blisters on her palms from the holding the handlebars.

“That was a really tough time because she was too young to understand her limits. So she’d pretend that she was okay and try not to draw attention to the fact that she had a very, very painful condition.”

The severity of EB can vary, said Dr Koh. Patients who have it mildly, for example, get blisters only when they walk quite a distance.

In Ira’s case, repeated contact in any area, and even the labels on clothes, would cause blistering. She would also have to miss school on Fridays because she would walk Mondays to Thursdays.

Dr Jain said: “On Friday, she’d have blistering, so she couldn’t walk at all, and it would take the entire weekend to recover.”

At one point in secondary school, Ira had a mother tongue class on the sixth floor while her regular classroom was on the first floor.

“We’d have to climb six storeys of stairs to get there. And a lot of the time, I’d pretend I was going back to class in order to get a book, when in reality I’d … take the lift,” she said.

The idea that people would find out that I couldn’t walk was just so horrible to me, that I went to extreme measures to ensure that they didn’t.

She admitted that it has “always been very important” to her to be accepted – so much so that when she once had to share a room on an overseas school trip, she did not snip off her blistered skin.

“She didn’t want her roommate to see it. And she walked with her blisters,” said Dr Jain.

THE SOCIAL STIGMA, IN A HARSH WORLD

In the case of Raed, who has blisters all over his body, there is no hiding his condition when his parents take him out in his pram, for example to the mall.

“(People) would walk and look at him, and they’d turn their heads. And … they’d come back and ask, ‘(Are those) burns?’” said Mr Shanwaz. “Some of them even … (say), ‘Eee.’”

One of the things he and his wife have learnt as Raed’s parents, however, it is to roll with the punches. As Ms Nurzeehan said, “It isn’t our duty to force our child to really accept this … harsh society.”

(But) it’s the job of every parent to raise a child to make this world a less cruel place to live. It begins with anybody who sees a child who isn’t normal … Just give (the child) a smile.

“Without you knowing, that smile of yours will in fact give (the child) lots of confidence to conquer the world,” she added.

For Mr Gary Chong, 49, whose two children have a less serious condition than his, it is this social aspect of living with EB that he feels the keenest because of his blisters and scars from the knees downwards.

“People would start to … stare at my leg, so I try to avoid wearing shorts,” he said. Echoing Ms Nurzeehan’s sentiments, he added: “I definitely hope that people … won’t look down on those people with a skin problem.”

Letting other patients know that they are not alone and spreading the awareness of EB were the reasons that both Mr Chong and the Jain family went on camera.

And it was an “absolutely” big decision for Mr Samir Jain, Ira’s father, as he had not disclosed his condition to anyone beyond his few close friends and family. “Maybe more people will come forward,” he said.

They are going up against a stigma attached to skin conditions, especially the severer ones, that Dr Koh thinks is ingrained in Singaporean society.

‘WE CAN’T EVEN USE MEDISAVE FOR DRESSINGS’

Stigma is not the only societal strain on EB families. There is also the financial cost.

Raed’s early hospitalisation bills came up to almost S$35,000. And before he was one year old, his parents were spending more than S$3,000 monthly on his dressings.

Dressings are “prohibitively expensive” because EB is a rare disease and the market is small for pharmaceutical firms, explained Dr Jain, the president of the Dystrophic EB Research Association (Debra) Singapore.

A five-gramme tube of ointment that works well for many EB patients costs S$71 here, she said, adding: “We can’t even use our Medisave to buy dressings and supplies for children.”

It was a struggle for Raed’s parents. Mr Shanwaz was initially working as a warehouse assistant, earning S$1,600. He then took up an additional job as a valet.

“Just imagine (doing that) for one year … (5am), you leave the house, (1am) you come back. I’d sleep, per day, four to five hours only. That’s how we went through that one year,” he said.

(But) I’ll fight, no matter what, for my son.

He has since found a better-paid job in the oil and gas industry. Debra Singapore now also helps with three-quarters of the family’s expense incurred for dressings.

The organisation gets sponsorships from the pharmaceutical industry and does other fund-raising, with some regular donors. Dr Jain hopes that in the coming years, there will be more government support.

“I’d like to believe that the development and strength of a country is measured by the amount of help … it gives to its weakest, not by its gross domestic product,” she said.

Ms Nurzeehan, who joined the organisation in September 2015 and has attended EB conferences in the United States and New Zealand, cites the free medical supplies provided in other countries.

France is an example. Three of Mrs Charlotte de La Tullaye’s four children have EB simplex, which mostly affects the skin around their joints, and she admits that they are lucky in their home country because “this disease is known”.

“When you have that kind of disease that is genetic, you’re 100 per cent covered by welfare insurance,” said Mrs La Tullaye, who moved here with her family five years ago.

SCIENTIFIC PROMISE?

While the small number of people with EB means it will be a challenge making a remedy widely available, a new treatment approach in Europe brings some hope to the community.

A dying boy was saved by replacement skin created from cells taken from him and grown by scientists, with gene correction done. The new skin was then grafted onto the areas where there was extensive skin loss.

Explaining how it worked, Singapore’s Institute of Medical Biology executive director Birgitte Lane said: “Two years down the line from the grafting and the skin looks very good. The challenge is that this is usually going to be … expensive.”

Still, she called it a “very promising” start for a group of people who have a “huge medical need”.

In Singapore, the Agency for Science, Technology and Research has been developing an EB programme, and IMB research director Lim Sai Kiang is “very confident” about the work so far.

EB is caused by a deficiency in one of the proteins that make up the skin, and the IMB is looking into ways to give patients the missing gene so that their skin does not peel off.

“In the best-case scenario, we’re looking to go to a clinical trial within two years,” said Dr Lim.

‘DON’T DIE BEFORE YOU’RE DEAD’

For now, Singapore’s butterfly children and their families are finding their own ways of leading as normal a life as possible.

Ira – who hopes to become a scientist – had a chance recently to wear adult high heels for the first time, on a special occasion: Her prom. She still chose a comfortable pair, instead of one that matched her dress better. “Prom isn’t about looking your best. It’s about feeling your best and … having a good time,” she said.

She may even get the chance to go to university overseas, as a cold climate would enable her to walk more and be “more active without having painful blisters”, said her mother.

Dr Jain’s bigger hope for Ira, however, is that her condition “makes her more compassionate to others who don’t fit the norm” and that she “grows into a … woman who learns that she still has the capacity to give back”.

Hope for the future is something that Raed’s grandmother Faridah has always had -even at those times her daughter would cry while applying his dressings.

“Sometimes while crying, she’d ask, ‘Why did I get a child like this?’ I would tell her we must go forward and not look back any more,” Mdm Faridah said in Malay as she misted up.

“We must look after this child well. And perhaps one day, this child will become a good and clever child who will help us.”

Raed has already brought his parents closer together. Said Mr Shanwaz: “We understand each other better. I’ll be on her side, she’ll be on my side, no matter what happens, until our last breath.”

Ms Nurzeehan knows she can rely on him, not only for her marriage but also “throughout any kind of problem”. “(Given) this kind of condition (EB), not all couples can work together as a team. But I’m blessed (to) get that opportunity,” she said, her voice choked with emotion.

Their journey with Raed has taught her a lot, including “the truth (that) everybody is blessed differently”.

“Ten per cent is what the world gives you. But 90 per cent is how you are going to react,” she added. “Most importantly, don’t die before you’re even dead.”

Watch the show Butterfly Children here.