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Laughter could be a rare disease. In Hong Kong, there are now 55 patients diagnosed with Angelman syndrome. The symptoms of this disease are obvious. However, the slow development of the detective technology in Hong Kong affects the diagnosis. According to the Health Department in Hong Kong, the first Clinical Research in Angelman syndrome published. They found that patients are diagnosed at the average age of 6.2. It is older than other places in the world which diagnosed the syndrome at the age of 3 or 4. Guan, Gaa Jing diagnosed 23 years ago, always smiles since young. The cause was not identified with multiple inspections. Auntie Guan saw her daughter awake at night, "laughing at the wall ". She thought Gaa Jing "Zongce" (encounter the ghost). Fortunately, they had the definite diagnosis because of the referral from a doctor who understands the syndrome well. Today is Gaa Jing’s 28th birthday. Over the years she has not known the words, loved excitement and "trouble". She cannot manage herself. Antie Guan still feels lucky to keep the “angel” company. She wishes her daughter a healthy and happy life.

The patients in other countries are normally diagnosed at the age of 3 to 4.
Recently Health Department analyzed 55 diagnosed patients through genetic tests in Hong Kong from 1995 to 2015. Now they are around from the age of 2 to age of 33. Their average age of definite diagnosis is 6.2. Among 65% of the patients suffer from AS because of chromosome 15 deletion which makes the symptoms more severe. The average age of definite diagnosis is 4.8; However, the symptoms are detected late if the syndrome is not caused from chromosome deletion. The average age of definite diagnosis is 9.4.
This research is published in “European Journal of Medical Genetics “The analysis points out that in Hong Kong, there are 98.2 % of patients suffer from moderate to severe developmental retardation. Elevated laughing ones are 83.6% Other obvious symptoms include speech impaired, epilepsy and microcephaly (head size smaller than normal children ) …etc.

Senior doctor who participated in the research, Luk, Ho-Ming (medical genetics) of health department said that recent years, the research in other countries found that part of the patients are getting fat after puberty. There are also 20% adult patients overweight in this research in Hong Kong, up to 33 to 34 BMI. The screening technology develops earlier in England and U.S. … estc.” He said. Normally the definite diagnosis is at the age of 3 or 4. The diagnosed age is older in Hong Kong. Maybe because the doctors and caregivers lack of the awareness of the symptoms. Besides, more accurate molecular genetics screening technology does not happen until these 10 years.

Seeing the daughter laughing at the wall, the mother misunderstood she saw the ghosts. She led the daughter to worship gods.

Guan, Gaa-Ying 28 years old is the first definite diagnosed patient in Hong Kong. Mrs. Guan delivered the daughter in Canada. She brought the daughter back to Hong Kong after 2 months. Soon after coming back, Gaa-Ying stayed in ICU because of the severe pneumonia. Several years after that, Gaa-Ying has been developmental delayed. She could not walk until 2 or 3 years old. Since kindergarten, she has to attend special needs school because of the severe intellectual challenges. Mrs. Guan thought it was the sequelae of the pneumonia. Gaa-Ying has sleeping problems. She wakes up in the middle of night, less than 2 to 3 hours of sleep, since young. “I didn’t know what happened to my daughter at that time. (At night) she looked at the wall laughing” Mrs. Guan thought her daughter “Zong Ce” (encountered the ghost), so she went to worship Wong Dai-Sin。

The mindful doctor insisted referral to help the definite diagnosis.
Until Gaa-Ying was seized with cramp at age of 5 admitted into Princess Margaret Hospital. The pediatrician doubted she suffered from Angelman syndrome. He advised Mrs. Guan went to Queen Elizabeth Hospital to let Gaa-Ying have a check in the clinic there. However, because of invalid result earlier, they refused the doctor. Fortunately, the doctor in Princess Margaret insisted the referral. The test confirmed Gaa-Ying has chromosome no. 15 defect. Mrs. Guan feels lucky to be informed by the doctor that the genetic disease passes down rarely to the second child, so she dared to be pregnant again. The twin girls were born after one year. ” Without this doctor, my two young baby girls would not be born. I did not even know what happened to my eldest daughter. If she was mentally retarded, I would not dare to have a second child.” Mrs. Guan said.

Arranging the therapeutic classes makes her daughter resisted.
The birth of two younger sisters made Mrs.Guan distracted and lacking care of Gaa-Ying. At that time, she was over estimated the improvement of Gaa-Ying. She often brought her to attend speech therapy class. Gaa-Ying resisted instead. The relationship between the mother and the daughter is not close till now. ”Every time she sees me, she thinks that I am scolding her.” Mrs. Guan said. Gaa-Ying does not know how to speak. She likes to hug to express her love. “Not to me, but to Dad and the helper.” Mrs. Guan actually feels disappointed. She also regrets to ask her daughter to attend the training courses. These few years, she spends more time with Gaa-Ying. Her daughter lives in the dormitory during the week days. Mrs. Guan takes the advantage of the weekend to take her to the park for a walk to improve their relationship.
It is not easy to take care of the AS. Mrs. Guan needs to take care of Gaa-Ying’s egestion, making her feel comfortable, cleans up after her mess. Moreover, she needs to be careful of her uncontrollable eating. She said “My daughter lives in her own world. She does not feel the emotion of the family. But Gaa-Ying is easy to be happy , likes to laugh and has fun. Every time, after taking care of her daughter and makes her comfortable, Mrs. Guan also feels happy to see her smiles. These years, the daughter’s syndrome makes Mrs. Guan learn how to understand others. ”My daughter makes me become a better person.” Many parents who have severe intellectual challenging children often complain,” she said. ”They said the children should “die earlier than us”. In case no one will take care of them later.” She instead does not have this thought. Her wish is to let her loving daughter have a happy life..

Ming Pao | 29-05-2016