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. However, parents of little Xin Lin – Mr Xie Dingshan and Mrs Xie Jiyi – are determined to make every moment count and help their little one in her battle to survive.
Despite battling with an incurable disease, Xin Lin’s mental and emotional development have not been affected. She still lights up whenever she sees her healthy older sister, aged 3.
Dr Tan Ee Shien, senior consultant at Genetics Service at KK Women’s and Children’s Hospital’s (KKH) Department of Paediatrics said the disease causes muscles to weaken progressively. She claims the majority of lives by the age of two due to breathing problems, although some individuals live longer.
Children with the condition, dubbed the “floppy baby syndrome”, experience weakness and limpness in the neck and limbs. To stabilise her condition, both her doting parents and grandparents perform physiotherapy exercises with her every day to help maintain her remaining muscle strength.
The rare condition was dismissed at first
Sharing their story to raise awareness ahead of Rare Disease Day, which takes place on the last day of February every year, Mr Xie explained that what his daughter is experiencing is so rare that the odds of winning the lottery are probably even higher.
It was reported that 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.
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.
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.
Fearing for the worse
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?”
Click the next page to find out more about rare diseases and how Xin Lin copes with it
What Xin Lin has to go through every day just to stay alive
Rare diseases are often linked to genetic causes
Floppy baby syndrome is 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.
Not giving up
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.”
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.
What are your thoughts on floppy baby syndrome? Share them in our comment box below.
News Source: Channel NewsAsia
Image Credit: Wee Teck Hian/TODAY
