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“Should I jump together with her just like an angel, go back to the heaven and beside of Lord?” Joe has had thought to suicide herself with Chloe, her eldest daughter diagnosed with “Angelman Syndrome” - a very rare genetic disease. Luckily, Joson, Chloe’s father is very optimistical and positive to life, supporting Joe and their family to learn and deal with this syndrome.
Angelman Syndrome (named after a British pediatrician, Harry Angelman) is neuro-genetic disorder, with an incidence rate of 1 in 15,000, there are about 50 cases found in Hong Kong. It is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. This syndrome mainly will caused developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking. Although in front of all this disabilities, it doesn’t mean they don’t understand, they just inability to response what they have heard!
Angelman Syndrome also been called "Happy Puppet Syndrome", because of happiness, excitable demeanor with frequent smiling, laughter, and hand-flapping movements can usually found on them. Perhaps we may not to tell why Angelman’s patient would carry a smile in medically. But their innocent smile and the sincerity joyfulness can tell the characteristic of them are filled with happiness with no doubt.
Episode 7 – “An Angel’s Poem” of “A Wall Less World V” from Radio Television Hong Kong (RTHK) was scripted with the background of Joe & Joson. The story is talking about how “Ah Wai” and his wife giving their best to support their family when her eldest daughter was diagnosed in “Angelman Syndrome”. “Ah Wai” has lost his job without any reason keeping it out from his wife. On the other hands, his wife was feeling very guilty while her daughter was inherited from mother’s gene, together with the problem on facing fears of the discrimination from people’s eyes. “Ah Wai” and his wife having fights all the times and with emotionally explosion. One day, she was left house with her daughter, and “Ah Wai” finally found her from the seaside then she honestly said to him she was pregnant with their second child. They smiles to each other and walk home with a determinately decision in mind.
SUFFERING ONE YEAR FOR DIAGNOSISES
About 1 year after newly marriage when Joe and Joson are expecting their first child – Chloe. They had gone through all kind of medical checkup for children before marriage. Baby was naturally delivered after ten months. And Chloe was satisfied with all the medical checkup after she born. Six months later, she was found developmental delay by the health center. Joe and Joson have begun their long journey of “looking for Angels”!
From Ophthalmology, Pediatrics, Orthopedics, Nutriology to Neurology; Started with physical therapy, Chinese traditional medication, acupuncture, MRI test even to deal with spinal experiment. It has already took for one year but she still fail on diagnosed from the syndrome. “We were filled with guilt and keep blaming ourselves if we are not doing good enough as a parent?” said Joson. Since he was absolutely tortured from the pain during process, then he realized whatever is happening on his daughter just not normal!
STAYING UP FOR EPILEPSY
Because of the abnormal secretion of Melatonin, Angelman’s patient mostly will have problem on “biological clock”. It will affect to sleeping problem. Patient like Chloe can only sleep for four hours mostly in a day with divined to one to two hours for one section. Usually she will be boosted and feeling energetic in the middle of the night. Therefore, Joe and Joson have to staying up, taking care of her at night in shift, then to make sure they can get back to their duty and work on the next day.
“Please don’t framework and limited her development, I don’t believed she was only intelligent as a two years old kid, she just doesn’t know how to express herself and feeling irritable. Try to imagine if there are no one can understand your feeling! Therefore, I really want to communicate with her and want to understand her thoughts” said Joe. Chloe is turning to six years old soon; Joe believed this will be the most valuable gift to her.
Metro | 5-11-2015
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