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Every day is a fight for toddler’s survival

SINGAPORE — For their 15-month-old daughter, who might not live to see her next birthday, Mr Xie Dingshan and Mrs Xie Jiyi are determined to make every moment count and help their little one in her battle to survive.

Mr Xie Dingshan with his daughter Xie Xin Lin who has Spinal Muscular Atrophy-Type 1. Photo: Wee Teck Hian/TODAY

Mr Xie Dingshan with his daughter Xie Xin Lin who has Spinal Muscular Atrophy-Type 1. Photo: Wee Teck Hian/TODAY

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SINGAPORE — For their 15-month-old daughter, who might not live to see her next birthday, Mr Xie Dingshan and Mrs Xie Jiyi are determined to make every moment count and help their little one in her battle to survive.

Born with the most severe form of spinal muscular atrophy — Type 1 — Xin Lin cannot lift her head, sit up, eat or breathe on her own. But the rare and incurable disease has not affected her mental and emotional development, and she lights up whenever she sees her healthy older sister, aged 3. Her doting parents and grandparents perform physiotherapy exercises with her every day to help maintain her remaining muscle strength.

Respiratory infections have landed her in hospital multiple times, and her family feared the worst in an episode on National Day last year.

“We thought she was really leaving us,” said Mr Xie, 36, a manager. “One of the suggestions given to us during her intensive care unit stay was not to use invasive intervention to prolong her life. Perhaps to that person’s medically trained mind, we were prolonging her suffering, but how can we stop fighting for her life when she has been fighting to survive?”

Sharing their story to raise awareness ahead of Rare Disease Day, which takes place on the last day of February every year, Mr Xie said: “What our daughter has is so rare that the odds of winning the lottery are probably even higher.”

Not all doctors know about Type 1 spinal muscular atrophy, and Xin Lin’s condition was missed during a development check-up when she was three months old, said Mr Xie.

The doctor had thought she was “just slow”. When she was eventually diagnosed, the family was hit hard by the fact that her condition was incurable.

The disease causes muscles to weaken progressively and claims the majority of lives by the age of two due to breathing problems, although some individuals live longer, said Dr Tan Ee Shien, senior consultant at Genetics Service at KK Women’s and Children’s Hospital’s (KKH) Department of Paediatrics.

Children with the condition, dubbed the “floppy baby syndrome”, experience weakness and limpness in the neck and limbs.

Following Xin Lin’s diagnosis, her parents underwent a genetic test and found that they were both carriers of the spinal muscular atrophy gene, which meant a one in four chance of their child having the condition.

MAJORITY LINKED TO GENETIC CAUSES

A rare disease may affect one in 2,000 people or fewer. About 80 per cent of rare diseases are linked to genetic causes, said Dr Wendy Liew, consultant at Neurology Service at KKH’s Department of Paediatrics. In such cases, it is often a mutation in a critical gene that leads to the disease, said Dr Tan. “While there is a family history of the condition in some cases, most are the first occurrence in the family,” she said.

Rare diseases can cause significant disability as they can affect many different organ systems at once, she added. KKH sees three to four cases of Type 1 spinal muscular atrophy each year. There are about 6,000 to 8,000 known rare diseases worldwide, but their prevalence in Singapore is not known as there is currently no registry here that keeps track of patients.

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. About 30 per cent of children with rare diseases will die before reaching their fifth birthday unless early intervention is given, said Mr Mah, whose non-profit provides ­financial and emotional support to 75 families affected by rare diseases.

Xin Lin is one of the society’s youngest beneficiaries, who range from age one to 17. Her family also receives support from groups such as the Muscular Dystrophy Association Singapore, KKH’s homecare team and Star PALS (Paediatric Advanced Life Support), a service by HCA Hospice Care. “Without support from these groups, as well as our bosses and colleagues, I doubt we’d be able to carry on,” said Mr Xie.

Xin Lin relies on several devices, on a subsidised loan from KKH, to stay alive. A machine pumps pressurised air into her airways through a mask for most of the day and at night. A feeding tube, which is changed weekly, delivers sustenance through the nose. By her bedside are machines to help her “cough up” ­secretions from her lungs and airways. An oximeter monitors her vital statistics.

As a simple cold can be potentially fatal, her caregivers wear surgical masks and sanitise their hands before attending to her.

After the respiratory infection last National Day, Xin Lin’s muscle strength deteriorated and she could no longer swallow any food.

Despite knowing what lies ahead for Xin Lin, the Xies are not ready to discuss end-of-life care with KKH’s medical team. “A lot of people talk about quality of life, but that is a term we’ve yet to figure out and understand,” said Mr Xie.

“All I know is that Xin Lin is still smiling. The hospital scares her but she smiles and lights up whenever she sees her older sister,” said Mrs Xie, 32, an advisory IT specialist.

“Someone asked me if I feel stressed (by her condition) but the truth is, whenever I see my little one smile, that de-stresses me. We’ll leave our sadness to the end. If we’re sad now, we cannot enjoy our time together.”

 

Dr Tan Ee Shien from Genetics Service at KKH’s Department of Paediatrics will share about rare genetic diseases, their symptoms and management options.

Date: Feb 27, Saturday, 10am to 12.30pm.

Venue: The Gallery Auditorium, *SCAPE, Level 5, 2 Orchard Link

For more information and registration, visit http://www.rdss.org.sg/events or https://www.clubrainbow.org/events

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