Rebecca Burdine knew that something was wrong the day that her daughter was born. ?Sophie was born without a natural sucking reflex, making it almost impossible to eat.? Later, it became clear that it had practically no strength at all.? As the months passed, Burdine, a biologist with the development of the University of Princeton, grows more concerned about the poor sleep habits of his daughter: short blocks of sleep interspersed with screaming intense fits.? When she turned four months, Sophie began having seizures, sometimes as much as three time.
The first time, Sophie suffered an Absence seizure, also known as the seizure "petit mal", Burdine had no idea what was going on: "it was like watching television when suddenly the screen turns into static, and then the canal comes back like nothing ever happened", she said.
A few months later, Sophie was diagnosed with the of Angelman Syndrome, a genetic disorder marked by often seized, sleep disorders, and severe developmental delays.? Actor Colin Farrell has recently attracted the interest of this relatively rare condition when he spoke publicly on the diagnosis of the his 7 year old son James on the Ellen DeGeneres Show.? The Irish actor discusses how his son behavior apparently always happy and intense fascination with water caused pediatrician James' test the him Angelman. ?Last week, research of Syndrome of Angelman made a peak on Yahoo!, at a given time, becoming his third most likely topic.
By Burdine, the newly renewed interest in the disease could not come at a better time, as researchers are about to find a cure.
"The dogma used to be that if you were born with disorder development... that was it,", said Dr. Paul Lombroso, Director of the laboratory of Neurobiology moléculaire at Yale University. ?"This has all changed."
Burdine adds: "we know now"maps"can be re-dealt."
Unlike other neurological disorders such as Autism and Alzheimer's disease, affecting many different genes, of Angelman Syndrome affects only one: the UBE3a gene.? Because researchers can determine what are the causes of the disorder - the absence of UBE3a - they were not only able to genetically modify mouse to mimic the symptoms of Angelman, but they were able to heal successfully.
Adapt this remedy for humans is the next logical step, but funding is still needed to move forward.
"Everybody talks to find a cure:"we are going to cure cancer, we will cure autism, diabetes, etc."but we are actually talking about a cure here,"Said Burdine.".""What is frustrating, is that the only thing the way is money."
BURDINE says that, although Angelman is a relatively rare disease - 1 to 15 000 and 20 000 births - hardening it would be a gateway to find a cure for other neurological disorders - such as disease of Alzheimer's and autism - and everything affecting learning and memory.
"It is an opportunity where the placement of a person can really pay off and they can see the results," she said.
Now five years, daughter of Burdine Sophie still cannot walk or even to sit on its own.? Without a reflex chewing, she is able to eat pureed baby food.? It is transported across where she is and still is layers.? It may also speak.
"As I like the smile of my daughter and her laughter, I want to get rid of the seizures;" I want him to eat real; I want to be able to talk: simplistic things which would be profoundly important to improve the quality of his life. ?
To learn more about AS and how you can help, visit CureAngelman.org.
没有评论:
发表评论