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It took 10 years before doctors knew patient had nerve disorder

SINGAPORE — In her dreams, 36-year-old Haslina Supari is a graphic designer who can work a mean tackle while playing her favourite sport, football. In reality, Ms Haslina, who was born with a rare inherited neurological condition known as Charcot-Marie-Tooth (CMT) disease, had lost her ability to walk and was unable to pursue her studies beyond N Levels.

Ms Haslina Supari, 36, was diagnosed with Charcot-Marie-Tooth (CMT) disease in her teenage years. CMT, one of 7,000 known rare diseases in the world, affects an estimated one in 2,500 people in Singapore. Photo: Robin Choo

Ms Haslina Supari, 36, was diagnosed with Charcot-Marie-Tooth (CMT) disease in her teenage years. CMT, one of 7,000 known rare diseases in the world, affects an estimated one in 2,500 people in Singapore. Photo: Robin Choo

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SINGAPORE — In her dreams, 36-year-old Haslina Supari is a graphic designer who can work a mean tackle while playing her favourite sport, football. In reality, Ms Haslina, who was born with a rare inherited neurological condition known as Charcot-Marie-Tooth (CMT) disease, had lost her ability to walk and was unable to pursue her studies beyond N Levels.

As a child, she started walking only at the age of three. Her parents knew something was seriously wrong only when she gradually lost her ability to walk or stand without assistance by the time she was in primary school.

For years, Ms Haslina’s symptoms confounded doctors. They prescribed physiotherapy but could not offer an explanation for her muscle weakness, which got progressively worse.

“My parents initially thought I had polio and took me to try traditional massages, but nothing helped. As I got weaker, they simply accepted that what I have is God-given,” said Ms Haslina.

It was not until a decade later, in her teenage years, that a diagnosis was made.

Affecting an estimated one in 2,500 people here, CMT is one of the approximately 7,000 known rare diseases worldwide. It is caused by gene mutations that affect the function of the peripheral nerves needed to communicate and control muscles.

Over time, the nerves degenerate and the person’s extremities, especially the hands and feet, weaken and waste away. Their ability to feel heat, cold, pain and maintain balance is also affected, said Dr Kamal Kumar Verma, a senior consultant at the National Neuroscience Institute (Tan Tock Seng Hospital Campus), which sees an average of one to two new CMT cases each year.

Currently incurable, CMT is not considered a fatal disease and most patients usually have a normal life expectancy, he added.

 

IN SEARCH FOR AN ANSWER

 

Grappling with the physical effects of an uncommon disease is challenging enough. Add a lack of treatment options, awareness and support into the equation, it means patients and caregivers are often hit hard.

Studies show that patients with rare disease often experience a “diagnostic odyssey”, said Associate Professor Denise Goh, head and senior consultant at the Division of Paediatric Genetics and Metabolism at National University Hospital (NUH).

The phrase refers to the long and arduous journey patients face in seeking answers about their condition.

In Singapore, three in five patients suffering from a rare disease faced problems getting diagnosed, with some waiting up to 31 years for a diagnosis, according to study findings revealed at the launch of the Asean+ Rare Disease Network last month.

The newly established network is a collaborative effort among patient support groups across South-east Asia to identify and improve gaps in rare disease care. The pilot phase of the Rare Disease Impact Study was conducted in Singapore late last year, involving 152 patients and caregivers.

The study found that difficulty in finding the relevant specialist, some doctors’ lack of knowledge about rare diseases and inconclusive test results were the top challenges Singapore patients seeking a diagnosis faced.

Some diseases take time to evolve to their full state, so early symptoms may not be sufficient to make the diagnosis, said Assoc Prof Goh.

However, she pointed out that doctors can still treat undiagnosed patients based on their symptoms. In fact, some studies have found that 80 to 90 per cent of patients were already on the correct treatment in spite of a lack of formal diagnosis, she added.

Assoc Prof Goh advised patients with undiagnosed diseases to get a referral to see a geneticist or an undiagnosed disease programme. NUH, for example, runs an undiagnosed case service which sees at least five to 10 such cases per week.

“High-level tests including possible genetic testing can help reach the diagnosis in a portion of these cases, but some patients will remain undiagnosed because the underlying reason for the disease has not been discovered by scientists and doctors yet,” she said.

 

CHALLENGES REMAIN POST-DIAGNOSIS

 

Even after a diagnosis, patients and caregivers continue to face insurmountable challenges.

According to Mr Kenneth Mah, vice-president of the Rare Disorders Society (Singapore), about half of these uncommon diseases do not have a disease-specific foundation supporting or researching them. The non-profit group currently supports about 90 local families living with a rare disease.

Caregiver issues include a lack of emotional support and respite care, financial burden and loss of career and income. Almost 70 per cent of caregivers surveyed had to give up their career to care for the patient, he said.

Mr Rajakanth R, executive director of Rainbow Across Borders (RAB), a regional patient support group alliance, said a coordinated and collaborative care plan is needed for patients and their caregivers. RAB initiated the study and setting up of the Asean+ Rare Disease Network. Its initiatives include rolling out the Rare Disease Impact Study across the region in the next few months.

Presently, treatments for many rare diseases, including CMT, are mainly supportive. For example, treatments for CMT include braces and other orthopaedic devices, surgery for severe foot and joint deformities, as well as painkillers and some nerve medications to relieve pain. Patients also undergo physical therapy, which involves muscle strength training to delay or reduce muscle atrophy, prevent or reduce joint deformities, said Dr Kamal.

However, no amount of physical therapy could stem the progression of Ms Haslina’s disease. Over the years, it has robbed her not only of her mobility and ability to grasp and hold things, but also her dreams and aspirations.

She managed to complete her Primary School Leaving Examinations and N Levels but did not continue her studies after that.

“I’d have loved to study graphic design but I had become too weak,” she said wistfully.

Now, talking leaves her winded and she requires help to use a toilet, eat and bathe. Even the simple act of swallowing has become an uphill battle.

After both her parents died, Ms Haslina’s brothers, aged 39 and 33, became her sole caregivers. She lives with her unmarried younger brother, who prepares her meals before leaving for work every day. A nurse drops by regularly to assist her in showering.

“I have become a lot weaker since last year. Not being able to eat on my own any more makes me feel angry and frustrated sometimes,” she said.

Despite her ongoing struggles, she chooses to count her blessings and focus on the positives.

At the Muscular Dystrophy Association Singapore (MDAS), she was given the opportunity to pick up graphic design skills. She now uses a special stylus and tablet to work on website development projects, a service provided by the association to help people with muscular disorders achieve some financial independence and to boost their self-esteem.

Recently, she managed to fulfil her football aspirations and played the sport for the first time after switching to a motorised wheelchair. The sport is adapted for MDAS members and players can attack, defend and spin-kick an oversized soccer ball by manoeuvring their wheelchairs.

When asked what her greatest wish is, Ms Haslina said: “I don’t think there’ll be a cure (in my lifetime), but I hope to maintain my current health status, not deteriorate further and always be able to smile.”

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