Evelyn Chuah is small for her size. Like any four-year-old, her run-off mode is activated once a playground is within sight. But instead of running – or skipping and hopping for that matter – she holds on tightly to her mother’s hands. It’s not that she’s shy, or wary of exploring a new environment.
Evelyn has osteogenesis imperfecta (OI), a congenital condition that causes weak bones, which break easily. Even with the help of a body and leg brace, her walk is slow and calculated, as a simple fall can land her in the hospital with a dozen fractures and render her immobile for months.
For OI patients, the danger of hurting themselves while unassisted is very real. By one-and-a-half years of age, Evelyn had already suffered a spinal compression fracture after falling on her back. The prevalence of OI is rare, according to global statistics, the brittle bone disease affects six to seven out of every 100,000 individuals.
There are at least four types of OI, classified under types I through IV. The severity of symptoms vary significantly according to type. Apart from having bones that fracture easily, patients also exhibit these common features: short stature, hearing loss (often starting in their 20s or 30s), brittle teeth, blue sclera, curved spine (scoliosis), muscle weakness, loose joints, breathing problems or a barrel-shaped rib cage.
Infants with type II OI – the most severe form of OI – often die shortly after birth due to respiratory problems. And unfortunately, the lack of proper diagnosis can sometimes cause OI to be mistaken for child abuse. Although there is no cure for OI, treatment can make the symptoms more manageable. Patients in the moderate to severe category like Evelyn will likely need assistance for day-to-day activities right up till their late teen years.
According to Professor Dr Thong Meow Keong, the condition is caused by a mutation in the gene that forms bone collagen. OI patients typically have a lack of or poor quality bone collagen, which leads to fragile bones. The consultant paediatrician and clinical geneticist says most cases of OI are caused by a dominant genetic defect inherited from one or both parents.
However, in some cases, neither parent passes on the gene. Prof Thong calls this “spontaneous mutation”, whereby the gene stops working properly soon after the child is conceived.
“Some people may think, ‘Oh, maybe the mum didn’t take enough calcium or drink milk when she was pregnant, that’s why her child has OI.’ But that’s not true,” he says.
OI isn’t a preventable condition and it should not be confused with osteoporosis, where bones become brittle and weak over time due to hormonal changes or a deficiency of calcium and vitamin D.
“Patients with OI carry a mutation in their COL1A1 gene. Our genes are like recipes that tell our body how to function in a specific way. When there’s an error in the set of instructions, even under the best circumstances, with the support of the best materials, your body will not be able to produce certain structures in the exact way you want it to,” says Prof Thong.
Having flawed genes isn’t unique to OI patients – science has proven that even normal, healthy individuals are walking around with a surprisingly large number of mutations in their genes.
“All of us actually carry a 0.1 per cent error rate in our genes; we’re all ‘mutants’ in our own way. A majority of these genetic mutations, fortunately, do not cause diseases,” Prof Thong explains.
OI is not always detectable during a pregnancy. But in more severe cases, a doctor may be alerted to these OI-related signs: bowing of the leg or arm bones, fractures, shortening or other bone abnormalities.
At birth, Evelyn presented symptoms that puzzled many a local doctor. She was born with a dislocated hip and deformed right foot. Her tiny newborn head could only turn to the left, but not to the right. Further investigations revealed a healed fracture on her right rib cage – bone damage that could’ve only happened while she was still inside her mother’s womb. At nine months old, Evelyn was diagnosed with OI type III. This was shocking news to Cheok Li Ting, who was never once alerted that the baby girl she was carrying could possibly be born with brittle bone disease. No one on her side of the family or her husband’s had a history of the condition.
“My first thought when I found out about Evelyn’s condition was that our child was going to be wheelchair-bound for life and that I would have to take care of her 24/7. I was very depressed,” recalls Cheok, 35. But time has proven her wrong. At the age of two-and-a-half, after over a year of physical therapy, Evelyn took her first step and has been walking ever since with the help of a body and leg brace fitted into special shoes.
Unfortunately, that is as good as it gets, at least for now. Her mobility is still only limited to short distances. She is unable to visit the restroom on her own and requires a trusted hand to be with her at all times at kindergarten. To spend more time watching over her daughter, Cheok has had to limit her working hours as an accountant to just three days a week. When Cheok is at work, Evelyn is sent to a daycare centre where she is given one-to-one attention by a hired aide.
“I am thankful that the daycare belongs to a friend and consists of a small group of about eight children. Even the kindergarten we send Evelyn to is a small homeschool environment. A teacher’s assistant watches over her there,” says Cheok. To help people understand Evelyn’s condition, Cheok carries around a handmade scrapbook filled with printed photos and text that explains the many complications of OI.
“I can’t expect other people to know how to care for Evelyn, but showing them the scrapbook does alert them to be more careful with her,” she says.
Stronger with time
Over the years, Evelyn has cracked an elbow, broken several teeth, and most recently, suffered 11 fractures from a broken hip. She has also developed scoliosis, which requires surgery. Cheok says it may take seven or more years before that’s possible as the procedure will need Evelyn’s bones to first increase in density, and to a level ideal to withstand the operation.In order to increase her bone mineral density, Evelyn has been going for monthly doses of intravenous pamidronate.
This long-term treatment is fortunately subsidised by the Government. But Evelyn’s parents still have to fork out up to RM2,000 every eight months to pay for her body and leg braces, each of which requires a new fitting as she grows.Undoubtedly, it has been heartbreaking for Cheok and her husband, Francis Chuah, 38, to have to stand by and watch their only child suffer from one too many painful memories at such a tender young age.”Evelyn has begun to question why she’s different from other children. Sometimes, she would refuse to wear her braces, so we have to explain why she needs it,” says Cheok.
OI is a life-long condition and it can be difficult to accept, she adds. “The more research you do, the more you won’t be able to imagine that that is going to be your life forever. And this is just from a parent’s point of view. What about for Evelyn? It must be frustrating for her. We can only hope she will get better with time.”It still remains to be seen whether the family will be able to identify a national school that can accommodate Evelyn’s special needs when she goes to Year One.
The future may seem bleak for patients of OI, but to Prof Thong, the outcome for the disease is “much, much brighter” nowadays.Having a good start in life makes all the difference, he says.”That simply means going for early treatment to strengthen the bones, prevent deformities, and maximise mobility.”Once they pass the first few years of life, we will be able to see very clearly if they are able to achieve independent function.”So, there’s no reason whatsoever why a patient with OI should not be able to go to school or to university, get a job, and even start a family,” says Prof Thong.
A case in point would be American OI patient Stacey Herald, who is known as the world’s smallest mother at 2ft 4in (about 71cm). Herald was 35 when she had baby number three in 2009.
“OI patients are not mentally handicapped; only their bones are affected, and that is something that can be repaired and treated nowadays,” says Prof Thong.