11 | Our Future
Josy Chow
Being normal is a mentality
Many of us will think that having rare disease means that it is the end of the world, and one will never be able to lead a normal life because of that. Josy, a SMA patient is a very good example to prove otherwise. This disease has affected her movement and has almost paralysed her whole body. Josy has very limited movement and can only type with her right thumb and index finger. Even though there is no doubt that this condition has brought to her drastic changes in terms of her mobility and lifestyle habits, she believes what defines whether a person is normal depends on their mentality and state of mind, not their physical state. A glass of water half-full always has two different interpretations, and it solely depends on how you decide to see it. For someone with a disease like her, they might think that it is unfortunate, but for Josy there are blessings that she could count on and things to be thankful for. She hopes that one day she can be seen as an equal in society, instead of someone that needs emphasising.
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Like mother, like daughter
Josy is especially grateful for her mum, who has always been here for her since day one. Josy said that she understands what Josy is going through, and offered nothing but support every time they face setbacks and challenges. She described her mother as an extraordinary person, as she is always fearless. When deciding on Josy’s treatment, she would always support Josy to take a leap of faith and try new options available. She is one of the major influences that shaped who she is as a person, not willing to give up and always seeing the bright side of things in the most undesirable situations. There were times when it was stressful having to live up to the expectations from family and friends. At times, those expectations might even be unrealistic in her eyes. For example, for someone who does not have a great understanding of the disease, they might expect Josy to be able to walk again when in reality, being able to swallow with ease is already considered a huge leap. At times like these, Josy’s mother was always the one to cheer her up.
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About Spinal Muscular Atrophy
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Cause
A mutation of the gene SMN1
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Inheritance
An autosomal recessive inheritable disorder
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Occurrence rate
Occurs 1 in 6000 to 10000 children; it is the second most common autosomal recessive disease in humans following cystic fibrosis.
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Symptoms
Muscle weakness due to death of motor neurons; patients experience difficulty in swallowing and breathing
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Effects
Due to affected mobility, patients might require the use of wheelchair; respirator is needed in severe cases
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Treatment
Spinraza is the drug provided to SMA patients.
"Small improvements in their conditions might mean nothing in normal people’s eyes, but it might be one that can greatly improve their quality of life."
You never know until you try
Josy’s goal is to become a writer. Since young, Josy has spent a great deal of time in and out of the hospital receiving different kinds of treatment. Nonetheless, her passion in writing is not something that can be taken away easily, and despite not being able to type and write like all of us do, she still believes in the power of education and insisted on studying. She proved to all of us that nothing is impossible when she managed to type out a 22-page proposal to the government calling for life-saving muscle medication using only two fingers. She said frankly that it took her a lot of effort and time, but she did not give up and persevered throughout. Good news came and the proposal was approved by the government and she was able to fight for the providence of the drug for SMA patients. With the drug, her quality of life is improved in terms of being able to swallow some food orally, being able to type on her own and decreased its reliance on ventilators, and the drug also benefited those who are suffering from the same condition as her.
Words for government and doctors
She believes that integrated education is not thorough enough in the community. She emphasized that it often poses difficulties for people who have gone to special schools to blend in in the real community, as they were previously being protected and sheltered in a giant bubble, thus might be hard for people to fit in at first. She is very thankful for the government and Hospital Authority for introducing the drug to Hong Kong, giving her and other SMA patients a chance to improve their quality of lives. She hopes that doctors-to-be will be able to treat each and every patient with compassion and empathy, and to never give up on them.
"If I need to choose one thing to describe myself, I am a cat with nine lives, nothing can kill me or put me down"