Angelmum
Moderator
Have not been posting here for quite some time.
Just watched MediaCorp "The Joy Truck". This first episode focused on 3 Rare Genetic kids.
1) Grace Tan 陈思颖
5岁的思颖患有丙酮酸脱氢酶复合物缺乏症，身体无法使力。其他病症包括行走困难，发育缓慢和癫痫。思颖是部分因生酮飲食(是一个高脂、低碳水化合物和适当蛋白质的饮食)而获益的成功例子之一。5-year old Grace suffers from Pyruvate Dehydrogenase Complex Deficiency, a metabolic disorder that deprives the body of energy. Some symptoms of this deficiency include developmental delay, poor muscle tone, abnormal eye movements, difficulty walking and seizures.Grace is one of the success cases who benefits from Ketogenic Diet (a special high-fat diet), which controls and minimizes lactic acidosis (the buildup of lactic acid which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat).
2) Jarren Ng Enle 黄恩乐三岁的恩乐仅四个月大就因肌肉张力较低而入住加护病房。几个月下来，医疗费用累积了1万5千新币之多。恩乐后被诊断患有先天性髓鞘发育不良性神经病 （Congenital Hypomyelinating Neuropathy）。现在，恩乐依靠仪器帮助他呼吸。尽管他很想出外游玩，但碍于呼吸上的苦难，家人至今都不敢让他外出。3-year old Jarren was first admitted to ICU after birth for four months due to his low muscle tone. These months of medical fees went up to $15,000. He was later diagnosed with Congenital Hypomyelinating Neuropathy, a neurological disorder that causes damage to the peripheral nerves (tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs).Jarren relies on ventilator support to breathe. As the ventilator requires power supply to function, his family would not risk bringing him out for leisure even though Jarren very much wants to do so.
3) Chloe Mah 马若涵
4岁的马若涵在2010年被诊断患有遗传性庞贝氏症 （第二型肝醣储积症）。全身的肌肉，甚至心脏，都在渐渐变弱。昂贵的酶替代疗程（每月约1万8千新币），一部分是由厂商和新加坡竹脚妇幼医院所赞助。然而，家人仍需自行缴付其他医疗费用，日常开销和疗程费。种种费用累积，每月至少得花上2000新币。
4-year old Chloe was first diagnosed with a genetic condition called Pompe Disease (which weakens her overall muscles, including that of the heart) back in 2010.Chloe is now receiving ERT treatment (Enzyme Replacement Therapy) which amounts up to a total of $18,000 every month. Currently, the medical fee is partially sponsored by the medication manufacturer and KK hospital. However, her family still has to take care of all her other medication, daily expenses and therapy sessions, which adds up to $2000 every month.
The father of Chloe founded Rare Disorders Society (S’pore). Hope children living with rare disorders are seeing light at the end of the tunnel.
人间还未到达处处有温情，体谅关怀与了解。也许是因为大多数的人不知道有罕见基因产生的问题。
Having a special needs child is a big test of patience, how to survive with unusual costs and live with the lack of govt support/subsidy.
I hope our society can learn more about us and understand that sometimes, your unusual stare or 无心之言 can be hurtful or spoil my day.
When strangers gave my girl irritating or angry stare because she shouted or behaved unsual, I have to pretend I didn't see or hear them.
When senior citizens (I encountered many times) commented "so big still sit on stroller" .... depends on my mood, sometimes l will say "关你屁事":weeek: . Only once, an aunty said sorry for her "无心之言".:weyes: She caught me by surprise and made my day wonderful. Sometimes, in the train, people will automatically give up their not priority seat for my girl. I really appreciate it. Sometimes, they pretended we are invisible, including those perfectly well adult sitting on Priority Seats because my girl looked too normal or we bought along a stroller. It was often when my girl showed her temper, cried or wanted me to carry her (25kg) then commuters decide to let us have a seat.
Sad to say, my own sister has recently asked me why my girl need to buy an expensive stroller. Special needs equipment are so costly, do we have a choice to buy cheap stuff? Do we have an option to buy things, special needs equipment or receive weekly therapies in $100 range? NO!
Educated people can read online if they are keen to know there's a medical group known as 'Rare Genetic'. Many tend to think we are similiar to Down's or Autism but elderly, we cannnot blame them for not understanding us, most don't know there are people born with genetic/chromosome disorder in Spore. It is the lack of public education on special needs that caused people to think this way or failed to have chance to understand and help us.
Just watched MediaCorp "The Joy Truck". This first episode focused on 3 Rare Genetic kids.
1) Grace Tan 陈思颖
5岁的思颖患有丙酮酸脱氢酶复合物缺乏症，身体无法使力。其他病症包括行走困难，发育缓慢和癫痫。思颖是部分因生酮飲食(是一个高脂、低碳水化合物和适当蛋白质的饮食)而获益的成功例子之一。5-year old Grace suffers from Pyruvate Dehydrogenase Complex Deficiency, a metabolic disorder that deprives the body of energy. Some symptoms of this deficiency include developmental delay, poor muscle tone, abnormal eye movements, difficulty walking and seizures.Grace is one of the success cases who benefits from Ketogenic Diet (a special high-fat diet), which controls and minimizes lactic acidosis (the buildup of lactic acid which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat).
2) Jarren Ng Enle 黄恩乐三岁的恩乐仅四个月大就因肌肉张力较低而入住加护病房。几个月下来，医疗费用累积了1万5千新币之多。恩乐后被诊断患有先天性髓鞘发育不良性神经病 （Congenital Hypomyelinating Neuropathy）。现在，恩乐依靠仪器帮助他呼吸。尽管他很想出外游玩，但碍于呼吸上的苦难，家人至今都不敢让他外出。3-year old Jarren was first admitted to ICU after birth for four months due to his low muscle tone. These months of medical fees went up to $15,000. He was later diagnosed with Congenital Hypomyelinating Neuropathy, a neurological disorder that causes damage to the peripheral nerves (tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs).Jarren relies on ventilator support to breathe. As the ventilator requires power supply to function, his family would not risk bringing him out for leisure even though Jarren very much wants to do so.
3) Chloe Mah 马若涵
4岁的马若涵在2010年被诊断患有遗传性庞贝氏症 （第二型肝醣储积症）。全身的肌肉，甚至心脏，都在渐渐变弱。昂贵的酶替代疗程（每月约1万8千新币），一部分是由厂商和新加坡竹脚妇幼医院所赞助。然而，家人仍需自行缴付其他医疗费用，日常开销和疗程费。种种费用累积，每月至少得花上2000新币。
4-year old Chloe was first diagnosed with a genetic condition called Pompe Disease (which weakens her overall muscles, including that of the heart) back in 2010.Chloe is now receiving ERT treatment (Enzyme Replacement Therapy) which amounts up to a total of $18,000 every month. Currently, the medical fee is partially sponsored by the medication manufacturer and KK hospital. However, her family still has to take care of all her other medication, daily expenses and therapy sessions, which adds up to $2000 every month.
The father of Chloe founded Rare Disorders Society (S’pore). Hope children living with rare disorders are seeing light at the end of the tunnel.
人间还未到达处处有温情，体谅关怀与了解。也许是因为大多数的人不知道有罕见基因产生的问题。
Having a special needs child is a big test of patience, how to survive with unusual costs and live with the lack of govt support/subsidy.
I hope our society can learn more about us and understand that sometimes, your unusual stare or 无心之言 can be hurtful or spoil my day.
When strangers gave my girl irritating or angry stare because she shouted or behaved unsual, I have to pretend I didn't see or hear them.
When senior citizens (I encountered many times) commented "so big still sit on stroller" .... depends on my mood, sometimes l will say "关你屁事":weeek: . Only once, an aunty said sorry for her "无心之言".:weyes: She caught me by surprise and made my day wonderful. Sometimes, in the train, people will automatically give up their not priority seat for my girl. I really appreciate it. Sometimes, they pretended we are invisible, including those perfectly well adult sitting on Priority Seats because my girl looked too normal or we bought along a stroller. It was often when my girl showed her temper, cried or wanted me to carry her (25kg) then commuters decide to let us have a seat.
Sad to say, my own sister has recently asked me why my girl need to buy an expensive stroller. Special needs equipment are so costly, do we have a choice to buy cheap stuff? Do we have an option to buy things, special needs equipment or receive weekly therapies in $100 range? NO!
Educated people can read online if they are keen to know there's a medical group known as 'Rare Genetic'. Many tend to think we are similiar to Down's or Autism but elderly, we cannnot blame them for not understanding us, most don't know there are people born with genetic/chromosome disorder in Spore. It is the lack of public education on special needs that caused people to think this way or failed to have chance to understand and help us.
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