Singapore
Every day is a fight for toddler’s survival
SINGAPORE — For their 15­month­old 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.
By Eveline Gan ­
February 24
SINGAPORE — For their 15­month­old 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 check­up 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, vice­president of the Rare Disorders Society (Singapore),
about half of these uncommon diseases do not have a disease­specific 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
non­profit 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 end­of­life
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 de­stresses 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 [1] or
https://www.clubrainbow.org/events [2]
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