'Hero Patient' faces rare disease with a smile
Woman suffering from rare disease nominated for Hero Patient award
She used to be a dancer in primary school and was graceful when she did the splits.
But when she turned 14, Miss Emily Ho's health quickly went downhill.
Miss Ho was diagnosed with Pompe disease, a rare hereditary neuromuscular disorder that causes progressive muscle weakness.
Despite having to go to Changi General Hospital (CGH) for treatment once a fortnight, Miss Ho, now 23, is not letting her debilitating condition affect her happiness.
Her doctor, Dr Augustine Tee, chief of the Department of Respiratory and Critical Care Medicine at CGH, said: "As a young patient who is facing a lifelong and potentially fatal disease, she has quite a cheerful disposition.
"She constantly has a smile for everyone."
Miss Ho was nominated for this year's Hero Patient award by Dr Tee.
Speaking to The New Paper, Miss Ho said there was no indication of her illness until she turned 14 and became progressively weaker.
"My PE (physical education) teacher became concerned when I kept falling and I was always last," said Miss Ho.
When she learnt about her diagnosis, she admitted she was "devastated".
"To say I didn't give in to sadness would be a lie. I did ask 'why me?'," said Miss Ho, who works as a graphic designer at the Faith Community Baptist Church.
And to make things worse, strangers around her do not understand what her condition is about.
"I look normal. I do not suffer any physical deformity, so when I need help, they do not know how to help me," Miss Ho said.
Explaining, she said she used to stand throughout the 50-minute train ride from her home in Tampines to her school, Singapore Polytechnic, in Dover Road.
"The chairs are too low for me. If I were to sit down, I would not be able to stand up because of my weak muscles. It was also during the peak hour, and I might fall," she said.
To make things more challenging, Singapore Polytechnic is located up a hill and was accessible via only stairs and a vehicular-access road.
"I could not take the stairs so I would walk up the hill via the roads.
"Thank God my friend would walk with me every day until we graduated," she said.
National Neurosciences Institute neurologist Josiah Chai, who treated Miss Ho, said Pompe disease happens in both adults and children.
"It affects about one in every 40,000 live births. Babies with Pompe disease tend to die early from heart failure.
"In adults, it's progressive weakness in the limbs and (it) affects the lungs eventually," Dr Chai said.
Dr Tee tests Miss Ho's lungs every year and he said he has seen deterioration.
"She now needs a ventilator to help her breathe when she sleeps. Both she and everyone around her are hoping she will never get the flu. Any lung infection would be devastating," he said.
Miss Ho, meanwhile, is living one day at a time.
"Being able to see the next day is already a big bonus," she said.
Being able to see the next day is already a big bonus.
- Miss Emily Ho
About the award
The Hero Patient award is one of the Eastern Health (EH) Alliance Caring Awards, which was created in 2013 to pay tribute to sterling staff, patients and caregivers.
The alliance is made up of Changi General Hospital, St Andrew's Community Hospital, the Health Promotion Board, SingHealth Polyclinics and The Salvation Army Peacehaven Nursing Home.
For the first time, staff from general practitioner clinics have been specially recognised for their caring service to patients.
A total of 613 awards were given out today.
Among them, eight were honoured as patients and nine as caregivers. They were first nominated or recommended by EH Alliance staff members, before being reviewed and selected by a panel of representatives from the alliance.
What is Pompe disease?
Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages.
The disease can show itself shortly after birth or at a later stage, when the patient is a teenager or an adult.
Neurologist Josiah Chai, who is with the National Neuroscience Institute (NNI), said that Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.
It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.
Symptoms of the disease include extreme muscle weakness and breathing difficulties.
The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.
Associate Professor Chai said the disease affects about one in every 40,000 live births and that there is no cure.