卡莉：“我唯一能说的是不要放弃，你心里的话终究跟我的一样，能够找到一种方式表达出来。"(I think the only thing i can say is don't give up, your inner voice will find its way out, Mine did.)
“you don't know what it feels like to be me, when you can't sit still because your legs feel like they're on fire, or it feels like ahundreds ants are crawling up your arm."(你们不知道我的那种感觉，我不能直直地坐着是因为双脚好像被火烤着，或者像几百只蚂蚁往你手臂上爬。”
“People look at me and assume i am dumb, because I can't talk"(人们看着我会认为我是一个傻瓜，因为我不能说话。）
”It's hard to be autistic because no one understand me. What do I want? I want to be like every other kid. But I can't, because I am Carly"(有自闭症是一件痛苦的事，因为没有人会明白我。 我想要什么？我只想跟其他正常的孩子一样。但是不可能，因为我是卡莉。）
“I am autistic,but that is not who i am. Take time to know me,before your judge me." (我是有自闭症，但自闭症不是我（指性格），在你对我作出（错误的）判断之前，花点时间了解我。）
“I think people get a lot of information from so-called experts,but if a horse is sick,you don't ask a fish what's wrong with the horse. you go right to the horse's mouth."(我知道人喜欢从所谓的专家那里获得很多信息。如果一匹马病了，你不会去问一条鱼那匹马有什么病，你应该直接问那匹马。）
My name is Carly Fleischmann and as long as I can remember I’ve been diagnosed with autism.I am not able to talk out of my mouth, however I have found another way to communicate by spelling on my computer. (and yes that is me typing on the computer by myself)I used to think I was the only kid with autism who communicates by spelling but last year I met a group of kids that communicate the same way. In fact some are even faster at typing then I am.Last year a story about my life was shown on ABC news, CNN and CTV here in Canada.After my story was played I kept on getting lots of emails from moms, dads, kids and people from different countries asking me all sorts of questions about autism. I think people get a lot of their information from so-called experts but I think what happens is that experts can’t give an explanation to certain questions. How can you explain something you have not lived or if you don’t know what it’s like to have it? If a horse is sick, you don’t ask a fish what’s wrong with the horse. You go right to the horse’s mouth.作者: 牛涌泉 时间: 2011-5-4 21:26 标题: re:感动! 感动!作者: 海妖朵朵 时间: 2011-5-5 16:52 标题: re:我唯一能说的是不要放弃，你心里的话终究跟... 我唯一能说的是不要放弃，你心里的话终究跟我的一样，能够找到一种方式表达出来
Hope builds for treating intellectual disabilities
A common medication is one of several drugs that might correct or even reverse the effects of fragile X, autism and other developmental disorders.
By Melissa Healy, Los Angeles Times
6:17 PM PDT, April 30, 2011
Slouched sideways at his desk in the front row of class, a sneakered foot jittering distractedly, Chase Brown could be any 14-year-old in academic captivity.
As the discussion turns to the American history of slavery, the teacher draws Chase back from his apparent reverie. A classmate has said that Abraham Lincoln freed the slaves. Does Chase agree or disagree?
Chase locks eyes with his teacher. "I agree," he says emphatically.
It is a moment of triumph for Chase, one of an estimated 90,000 in the U.S. who live with an inherited form of intellectual disability known as fragile X syndrome. Only a year ago, he would have fled the classroom, thrown something at the teacher or stayed mute. Last year, he tested below first-grade level in all academic domains.
Impulsive, distracted and quick to boil over, he seemed incapable of learning.
This year, he can sit in a classroom for half an hour before needing a "sensory break": a walk around the parking lot to clear his overstimulated brain. He is reading at a fourth-grade level, following class discussions, looking teachers squarely in the eyes and answering questions.
On a surprising drug — a workhorse antibiotic used since the 1960s to treat acne, skin infections, strep throat and chlamydia — Chase is learning.
Minocycline, the medication Chase has been taking for almost eight months, is one of several drugs that might correct — even reverse — many of the brain perturbations of fragile X and several other developmental disorders, including autism.
The medications are still far from proven: Large-scale trials may take several years to complete. But if they live up to their promise without dangerous side effects, they could accomplish what no medication has been able to: cure a genetically based intellectual disability.
Last year, Chase was among the first 50 children and adults with fragile X to take the drug as an experimental treatment. Since then, said his mother, Heather Brown, he has changed in ways she hadn't thought possible.
He has developed the ability to chat: share details of his day, make thoughtful observations and inquiries, and respond with apparent understanding, even empathy.
His explosions of kicking, hitting and object hurling, and the terrible remorse that followed, have vanished.
It's not sedation: She saw that before when Chase cycled through a list of powerful antipsychotic medications. He seems instead to be learning new ways to behave.
"It's life-changing, it really is," said Brown, who lives in Mission Viejo with Chase and his stepfather. "I was, like, 'Minocycline? They use that for acne.'"
The condition that Chase was born with is caused by an abnormal elongation of a portion of DNA on the X chromosome. It is the most common inherited intellectual disability worldwide, affecting about 1 in 4,000 babies. It causes some cases of autism. Depending on the extent of the error, a child with fragile X can range from nonverbal to having communications skills that are mildly impaired. Epilepsy is common. Short-term memory deficits and very short attention spans can short-circuit academic progress.
It can seem like a train wreck of conditions — autism, attention deficit, bipolar disorder, anxiety and more — rolled into a single kid.
Yet now there's some genuine muscle pulling on the hope side of the equation, thanks to a confluence of parental activism, advances in brain science and luck.
"People haven't thought about what it would be like to reverse intellectual disability or mental retardation," says Dr. Randi Hagerman, medical director of UC Davis' MIND Institute, who ran the minocycline study in which Chase was enrolled. "We now think it may be possible."
It's a goal as controversial as it is ambitious. For decades, activists and parents championed inclusion for those with what was until recently called "mental retardation" (the preferred term now is "intellectual disability" or "developmental disability").
Somewhere along the way, many came to reject the idea that a "cure" was needed, or desirable. To suggest that intellectual disability is an illness crying out for a fix devalues and stigmatizes these children, they contended.
Advances in biomedical research have already begun putting that conviction to the test for families of those with Down syndrome.
In 2009, researchers at Stanford University School of Medicine and Packard Children's Hospital announced "a ray of hope" for those born with the condition. Working with mice bred to have the equivalent genetic error, they identified a faulty brain mechanism that disrupts the laying down of certain memories and, in turn, learning.
They also found that a readily available drug cocktail that boosts the brain chemical norepinephrine could compensate for the problem, enabling the mice to learn normally. With early use, the scientists suggested, such a drug might put a child born with Down syndrome on a normal cognitive trajectory.
Not all parents hailed this "ray of hope." Reacting to the news on a blog called Contrarian, Jenn Power, a Canadian mother of twin boys with Down syndrome, echoed the views of many who have been active in promoting the rights of those with intellectual disabilities.
"They do not need a needle in their brain to make them more functional, to help them find their car keys," she wrote. "What they need is a society that values what they have to offer."
After physicians recognized in Chase the classic profile of a fragile X child five years ago, he was treated with psychiatric medications, with limited results.
When puberty set in, his anxiety, aggression and repetitive behaviors escalated dramatically — along with his size and strength.
Heather Brown, a 38-year-old office manager for an electric contracting company, worried for his safety — and sometimes her own.
"I was dealing with hitting and kicking and throwing stuff," she said.
By then, she and her ex-husband, Chris, who lives in Carlsbad , had met UC Davis' Hagerman, who urged them to consider participation in her minocycline study. It went on to show that 70% of those with fragile X responded with significant improvement in language, behavior and cognitive function.
Minocycline's effectiveness in these early trials appears to be due to its suppression of a protein called MMP-9, which is overproduced in fragile X brains, derailing normal neural development. The antibiotic also tamps down inflammation in the brain. Both effects, amazingly, are incidental to the drug's antibiotic powers.
The drug's principal side effect in the studies is a graying of the teeth. A small number of patients developed blood signs suggestive of autoimmune inflammation, albeit with no associated symptoms.
Beyond minocycline, early trials are underway for three medications that inhibit a second protein that is overactive in fragile X brains and for a fourth drug, arbaclofen, that acts on yet another brain chemical. Arbaclofen appears from early drug-trial results to reduce the hyperactivity and hypersensitivity that are hallmarks of fragile X, and may help children with autism unrelated to fragile X.
Mark Bear, a neuroscientist at MIT's Picower Institute, says there's universal agreement that such drugs should produce the most dramatic changes in young children. But conducting early trials on very young children raises ethical and safety concerns, so they will focus on adults with fragile X for now.
Though this may limit the findings, "we have our fingers crossed that we'll still see substantial benefit," Bear said.
Many of the drugs considered promising for fragile X also have excited interest as treatments for a wider range of neurological conditions — stroke, spinal cord injury, multiple sclerosis, autism and Alzheimer's disease — a fact that will probably speed their path to market.
Chase, in the meantime, will continue to take minocycline, now prescribed off-label by Hagerman because the trial in which he participated is over.
"I'm sure people thought he might be a lost cause," his mother said of his situation before his treatment began. "I did wonder myself."
She said she didn't know what to make of today's talk of potential "cures." But now she sees a future in which her son might navigate the adult world — complete high school, have a job, an apartment, a girlfriend — with just a little help from family and social services.
"I'm definitely thinking differently," she said. "He's on a good path 作者: xiaoengm 时间: 2011-5-14 23:22 标题: re:“I think people get... “I think people get a lot of information from so-called experts,but if a horse is sick,you don't ask a fish what's wrong with the horse. you go right to the horse's mouth."(我知道人喜欢从所谓的专家那里获得很多信息。如果一匹马病了，你不会去问一条鱼那匹马有什么病，你应该直接问那匹马。）