‘I’m like a mannequin,’ says this rare disease patient

While she was still employed, Juliana worked from a standing position as the soft tissues in her knees had ossified and she was no longer able to sit. - JULIANA LOUISE DORAISAMY

When she came into this world 44 years ago, Juliana Louise Doraisamy was a normal, healthy baby.

Her unique trait, her parents later told her, was that unlike most babies, her body was “hard”, not soft.

Otherwise, the happy child ate, slept, played and grew well.

Juliana recalls: “At three years old, I had a fall and a shard of glass cut my wrist.

“It was a very small cut, but because I was bleeding, my father rushed me to the hospital where they cleaned the wound and applied a bandage.

“Within a few days, my forearm started ‘rising up’ at the elbow and I was taken back to the emergency department.

“No one knew why that was happening as there was no fracture, but they put my arm in a cast and a sling, hoping the problem would be resolved.

“After two weeks, it still didn’t improve and that’s how my arm remains till today – locked in an L-shape.”

Alarmed at his daughter’s bent arm (likely due to ossification from the inflammation from the cut), her father drove to Kuala Lumpur to consult doctors at Universiti Hospital (now Universiti Malaya Medical Centre).

“Luckily for me, the treating specialist had just returned from a conference overseas, where they were discussing about diseases with joints stiffening, and fibrodysplasia ossificans progressiva (FOP) was one of them.

“He took a biopsy and (I think) sent it overseas and that’s how I got diagnosed,” says Juliana, who lives in Ipoh.

Also known colloquially as “Stone Man Syndrome”, FOP is a rare genetic disorder where, after birth and progressively through life, muscles and tendons gradually transform into bone (a process called ossification).

Any injury or trauma to the muscles and connective tissues, as well as normal ageing, cause them to transform into bone.

This creates a second “skeleton” of extra bone, which makes movement impossible.

Nowadays, more doctors are aware they should not perform a diagnostic biopsy on suspected FOP patients as the procedure injures the tissue, thus triggering the abnormal bone growth.

Growing up fairly normal

As there is no treatment for FOP, Juliana’s parents were told not to let their child fall and suggested a body brace to prevent scoliosis, one of the symptoms of the disease.

Throughout most of her schooling years, Juliana wore the brace, but being a kid, she would still run around and fall occasionally.

She says: “Not all falls result in flare-ups, but whenever there is swelling, the soft tissues eventually harden.

“One time, I fell from a bicycle and couldn’t open my mouth afterwards – my aunty had to blend food to feed me.

“I must have been about nine years old then and told myself no way was I going to eat like this, so I did my own exercises and managed to pry open my mouth.”

Juliana was seemingly all right and after completing school, she enrolled in a polytechnic to study business.

She could still take buses and go about her daily activities at that time.

Then she found out that she was pregnant, just as she was about to complete her course.

Her world turned topsy-turvy.

Keeping the baby

While it is possible for a woman with FOP to carry a child, pregnancy is rare as it poses a substantial life-threatening risk to mother and child.

The initial risks include miscarriage, which may be increased due to ossification of the abdominal wall.

Juliana reveals: “I was a lovestruck teenager and discovered I was pregnant at 19 – that’s when things went south, but thankfully, I was about to finish my course.

“The obstetrician told me the risks involved and suggested abortion, but I said no, whatever will happen will happen.

“I am a stubborn woman – that’s how I get through life!

“My son was born premature via a Caesarean section at seven months, and thankfully, he didn’t inherit my condition. He’s 24 now.”

Globally, there is only one case of an FOP patient who has delivered a child with the same condition.

Without a partner to help, Juliana had to find a job to support her son and herself.

By now, parts of her spine had fused, she couldn’t turn her neck, and both her elbows were locked in an L-shape.

Still, she managed to secure a part-time job doing market research and writing while her mother helped out with babysitting.

Juliana says: “A few years into the job, my boss told me I wouldn’t amount to anything in life and would be stuck in this position forever.

“That statement shocked me and I resolved to apply for a government job to prove him wrong.

“One kind interviewer told me I was someone special and offered me a job in the Labour Department.”

For nine years, she was happy at work as a civil servant, although in pain as her FOP had begun to progress.

Earlier during her polytechnic years, Juliana had accidentally knocked her knees on a pavement and the injured tissues slowly fused, meaning that she can no longer bend her knees.

Travelling by bus was not possible either as she couldn’t climb steps or sit.

“My mother found a second-hand car and modified the passenger seat so that I could recline back while she drove me.

“At work, I would stand – sometimes more than 10 hours a day – the exhaustion is taking a toll on me now.

“I was sent for physiotherapy, but because the physiotherapists didn’t know about FOP, they would say I was refusing to cooperate.

“Whenever they pushed me to do strength-training exercises, they would injure me further,” she says.

Among the medications she is currently taking are pregabalin and dihydrocodeine for pain, and drugs for migraine.

A true fighter

When Hospital Kuala Lumpur (HKL) consultant clinical geneticist Dr Kavitha Rethanavelu approached Juliana to ask if she was interested in participating in a clinical trial for FOP treatment, she was initially hesitant.

But after almost a year of thinking about it, she agreed.

After the first infusion of garetosmab – the drug under investigation – Juliana noticed her migraine disappeared for a few days.

Alas, the happiness was shortlived as the debilitating attacks returned subsequently.

One time, Juliana and her sister got caught in heavy traffic while exiting HKL.

The navigation app rerouted the map and it took five hours before they reached Ipoh.

She says: “I ended up having deep vein thrombosis in my leg and had to be given blood thinners to clear the clots.

“Anyway, I also started developing gynaecological problems and now have additional abdominal pain to battle with.

“Three months before the clinical trials ended, I decided to quit the programme because I wasn’t seeing much improvement.”

As more body parts began stiffening and fusing causing unbearable pain, Juliana decided to get medically boarded-out from her job last December (2024).

Her movements have slowed down, her body tilts to one side, she walks with a shuffling gait, and she can only stand or lie down.

“No matter how slow I am, I try to walk as I don’t want to be bedridden.

“On a scale of one to 10, my FOP is probably eight as I’m like a mannequin – a stiff plank,” she says.

Juliana needs help with brushing teeth and washing her hair although she can bathe herself.

She uses a long spoon to eat as her arm movements are limited – eating a burger takes her an hour.

“Looking at patients overseas, some are being tube-fed and I know a day will come when I’ll be like them, but until then, please don’t take away whatever joy I still have,” she says, tearing up.

To draw awareness on FOP, Juliana has started creating TikTok videos.

“My sister, who I live with, said I was getting depressed sitting at home and asked me to do something to occupy my time.

“I’m still learning how to do these videos myself, but I’ll get there.”