A young woman is determined to win the battle of her life
At the age of 18, Jooei Liew May Yee was a vivacious, carefree secondary school student full of dreams for her future when she began to have bouts of fever that did not seem to dissipate. Her legs also felt weak. Yet, whenever she visited the doctors, they couldn’t find anything wrong with her.
Over time, Jooei began to experience breathing difficulties and palpitations. Her mother, Ong Siew Kean, became worried and decided to take her to the Ipoh General Hospital, where she was diagnosed with suspected heart disease.
Various tests were performed on her and tracheostomy (an opening created at the front of the neck so a tube can be inserted into the windpipe) to help her breathe. She was later suspected of having meningitis and stayed in the hospital ward for three months.
“During her stay in the Ipoh General Hospital, the doctors tried to wean her from the ventilator by giving her oxygen through the mouth. But this worsened her condition as she would black out when her lungs became saturated with oxygen,” her mother Ong Siew Kean recalls. “After a few attempts with a similar outcome, she was put back on the ventilator.”
Since Jooie did not show any improvement after a few months, she was sent to University Malaya Medical Centre (UMM) in Kuala Lumpur. After one month in the Intensive Care Unit and four months in the normal ward, her condition improved and she was allowed to go home. The breathing tube was removed and she could now breathe with the help of the Bilevel Positive Airway Pressure (BiPAP) ventilator which delivers pressurised air through a mask to the airways. She was also required to go for follow-up in UMMC 3-4 months once.
Jooie recounts her worst nightmare throughout her ordeal – the time in UMMC when her tracheostomy tube was being changed for the first time. “The doctor in UMMC told me that the tracheostomy tube should actually be changed once a month. But throughout my stay in Ipoh General Hospital for three months, it had not been changed at all!” says Jooie.
“This caused tissue to grow and ‘stick’ at the tube at the opening of my neck. When the doctor pulled out the tube, the tissue was injured and bright red blood began to pour out. There was so much blood pouring out from the hole at my neck that I thought that I would die. It was really terrifying,” she says, cringing as she recounts the experience.
The real problem
The days dragged on as Jooie continued to battle breathing difficulties, palpitations and muscular deterioration without much improvement. A brain specialist in UMMC suspected that she had muscular dystrophy and sent her for a tissue test that revealed her actual malady after seven long years – Pompe disease.
Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness. It belongs to a group of more than 40 rare genetic diseases called lysosomal storage disorders (LSDs)
The disease is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase. This enzyme is required to breakdown (metabolise) the complex carbohydrate glycogen and convert it into the simple sugar glucose. Glycogen is a thick, sticky substance and failure to properly break it down results in massive accumulation of lysosomal glycogen in cells, causing damage to muscle cells. The symptoms typically get worse over time, as more glycogen accumulates and the destructive process continues.
The onset of Pompe disease can occur during infancy, childhood, adolescence or adulthood (late-onset). Jooei has late-onset Pompe disease where most people experience progressive muscle weakness, resulting in difficulty walking and moving around, breathing properly, even eating and performing basic daily tasks. As the disorder progresses, breathing problems can lead to respiratory failure (death).
In 2011, Jooie’s muscular deterioration worsened to the point that she could not walk. She stayed in bed most of the time and depended on her mother to tend to her daily needs. Most of the day, she immersed herself in gaming to escape from reality.
One day, lying in bed, Jooie called to her mum to get her something but there was no reply. Naturally quick-tempered, she became furious and in a burst of energy that she never knew she had, she sprang out of bed to reach out the item she wanted.
“Initially, I was unable to accept my condition and kept asking ‘Why me?’ But that incident made me realise that my mind is stronger than my body and that with determination, I can improve my condition,” states Jooie.
“I also realised that I can’t depend on my parents to care for me for life as they will grow old one day. I told myself I need to pull myself together and be independent again. I hope I can take care of my parents instead of having them take care of me all the time.”
This inspired Jooie to learn to walk a few steps each day and reduce her dependency on the BiPAP machine, only using it when she slept at night. She also became involved in online selling, where she managed to earn a few hundred to a thousand ringgit per month. This gave her encouragement to continue her endeavour even when she needed to slow down due to fatigue.
Hope for a better life
In 2014, Jooie and her mum joined a charity event organised by the Malaysian Lysosomal Society where they got to know about government sponsorship for Enzyme Replacement Therapy (ERT) for LSDs patients.
Enzyme replacement therapy (ERT) is a medical treatment via intravenous infusion to replace a deficient or absent enzyme in patients. In Pompe disease, ERT replaces the deficient lysosomal enzyme acid alpha-glucosidase (GAA) so that the patient’s muscles can improve, helping them to breathe properly and regain their mobility and independence.
Jooie applied for the sponsorship and was approved. She started her ERT since 2015 by receiving the treatment 3-hourly every two weeks in Hospital Kuala Lumpur. Gradually, her condition improved and now she is able to walk a little on her own.
ERT is currently the only approved treatment for Pompe disease and Jooie has to depend on it for life since there is no cure for her condition. However, the treatment costs RM1 million per year, way beyond what her parents can afford. This cost is expected to increase as she gets older since the dosage will need to be increased.
“Ever since Jooie was under ERT, she has shown good improvement and is able to regain some independence. Our main concern now is that our application for subsequent course of the treatment has not been approved by the government. We really hope that the government will continue to fund Jooie’s ERT medication as her life depends on it. With ERT, we are hopeful that she will continue to improve and become wholly independent and able to take care of herself one day,” says Ong.
To all parents, Ong advises, “Be aware of any unusual symptoms in your kids, such as weakening of the body or fever that never seems to go away entirely. If you suspect anything unusual, do not delay in seeking medical help. We never expected this to happen to our child but in reality, it can happen to anyone anytime.”