My Victorious Star

My Victorious Star - An Inspiring Journey of A Cerebral Palsy

Wednesday, January 23, 2013

Angel or not, he's mine



Remember few days ago I mentioned about our first appointment of the year with Prof Dr Raja Juanita? And on that note I mentioned that she realised something new on Syabil?


Well, here it goes. She suspected that Syabil might have Angelman Syndrome.


My head was like 'Angel what?'


She noticed my blank reaction and started to show me few facts on Angelman Syndrome that she googled.


OK, based on what I understood, basically, it is when a doctor may suspect Angelman syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with movement and balance, small head size, and flatness in the back of the head, along with frequent laughter. That includes seizures as well and the chin is usually pointed.


Then, she showed few photos and wait a minute! I saw Collin Farrell! I googled myself to find out why. It revealed that the actor has a special need child, named James who was first diagnosed as Cerebral Palsy and then as Angelman Syndrome after some blood test done.


Through our discussion, Angelman Syndrome (AS) is neuro-genetic disorder, which is often misdiagnosed as Cerebral Palsy or autism based on certain criteria. Some say it is a non-specific Cerebral Palsy. The prevalence of Angelman syndrome among adults and children is estimated to be 1 in 12,000-20,000 people. It is also called as Happy Puppy Syndrome due to happy demeanor.


Angelman Syndrome has a sister, Prader-Willi syndrome (PWS).


OK, too much information already. The diagnosed is not affirmative yet. Syabil still have to undergo a type of blood test called FISH. It's known as fluorescence in situ hybridization (FISH), this test can show if portions of any chromosomes are missing.


I went home clueless. Whether it's gonna be worse or not. But after a long thought, I guess I'm gonna accept what's been fated. I've done it before. And I'm gonna do it again. I have had my fears and tears.

3 comments:

  1. Allah knows best, Piah. *hugs*

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  2. Alhamdulillah..

    "...But it is possible that you dislike a thing which is good for you, and that you love a thing which is bad for you. But Allah knows, and you know not."

    Surah Al-Baqarah: 216

    May Allah help you and make you stronger.. Amin.

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