Moderators Gregory Matthews Posted August 15, 2014 Moderators Posted August 15, 2014 Yesterday, a mother, her child and a caretaker visited in our home. The 8 1/2 YO girl was a little angel in human form. I had a good time talking to the girl. She laughed, at times, focused on me, and otherwise she indicated that she understood everything that I said. When she saw my camera, she immediately began to finger it and when I pointed it at her, she took a selfie and then admired the digital photo. Her mother informed me that my camera was familiar to her as it looked like one her father had. Yet, she never spoke a word to me. You see, the girl has "angelman syndrome." You can google it. It is genetic, and except in very rare circumstances in not inherited. One in 12,000 to 20,000 children have it. Typically these children live a normal number of years. With therapy and training some relief of symptoms can be achieved. Researchers believe that it is possible to obtain more than just a relief of symptoms, but a cure which is probably many years away. This child is fortunate. She lives in a family situation where she is provided with everything that needs to be done of provide for her care, and therapy. To learn more about this condition, symptoms which I have not listed, and the potential for a cure, google it. In the meantime, we look forward to a world where angels are not a result of a genetic accident. Quote Gregory
Moderators Gregory Matthews Posted August 15, 2014 Author Moderators Posted August 15, 2014 So, what about angelman syndrome: Imagine with me that you ordered a new car. When it arrived at the dealer all parts were in place. None of the parts were defective. But, the car could not be driven. The manufacturer had neither timed it nor adjusted the air to gasoline ration. The engine master controller was unable to coordinate the various engine functions. This is angelman syndrome. All parts are in place and none are defective. The master control that organizes the various functions is not coordinating them. In mice, some (not all) cases have been cured. That is why it is thought that a cure for humans may be in the future. Quote Gregory
Members rudywoofs (Pam) Posted August 15, 2014 Members Posted August 15, 2014 from what I read, the children with this disorder have a physiologic defect of a nonfunctioning maternal UBE3A gene, which results in severe speech impairment, developmental delay, intellectual disability, and ataxia. I may be wrong, but I don't believe genetic disorders can be cured -- only treated.. The little girl who visited your home sounds like she was delightful. :) Quote Pam Meddle Not In the Affairs of Dragons; for You Are Crunchy and Taste Good with Ketchup. If we all sang the same note in the choir, there'd never be any harmony. Funny, isn't it, how we accept Grace for ourselves and demand justice for others?
Moderators Gregory Matthews Posted August 15, 2014 Author Moderators Posted August 15, 2014 Pam, your 1st part is correct. As to treatment: The normal human has two of these genes, one functional good gene and the 2nd which is a non functional spare. The search for a cure is going in two directions: a) Turn on the non-functional spare. 2) Heal the functional defective gene. Read the research, it is on the Internet. Partial success has been achieved in mice. Suscess in either of the above would be a cure. Quote Gregory
LifeHiscost Posted August 15, 2014 Posted August 15, 2014 Quote: In the meantime, we look forward to a world where angels are not a result of a genetic accident. That'd be here. "Behold, I shew you a mystery; We shall not all sleep, but we shall all be changed, In a moment, in the twinkling of an eye, at the last trump: for the trumpet shall sound, and the dead shall be raised incorruptible, and we shall be changed. For this corruptible must put on incorruption, and this mortal must put on immortality. So when this corruptible shall have put on incorruption, and this mortal shall have put on immortality, then shall be brought to pass the saying that is written, Death is swallowed up in victory. O death, where is thy sting? O grave, where is thy victory? The sting of death is sin; and the strength of sin is the law. But thanks be to God, which giveth us the victory through our Lord Jesus Christ."1 Cor 15: 51-57 KJV God is Love! Jesus saves! Quote Lift Jesus up!!
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