Two girls who never grew up
Two girls seem to have decided to challenge the most inevitable things in life: aging.
Journalists have long been watching the girls with a strange disease, the cause of which no one can explain, and one scientist who believes that these children may provide the key to immortality.
Richard Walker attempted to conquer aging while still a 26-year-old hippie. It was back in 1960, he was young, but always knew that old age eventually take his life force, and every year his body will become less and less reliable. Once Walker promised myself that for 40 years is required to find a cure for old age.
Walker became a rocket scientist to figure out why he is mortal. Before him, experts have published several hundreds theories of aging, and they tied him to a variety of biological processes. But none of them did not see the full picture of this phenomenon.
Walker, who is now 74, believes that the key to ending aging may be a rare disease, which today do not even have an official name. It is simply called "syndrome X».
Walker found the two girls with this strange disease. The girls seemed quite getting old. Walker suspects that the disease was probably caused by a malfunction in the DNA. And now his quest for immortality depends on whether he finds this failure.
At the end of a busy work week, Mary Margaret Williams takes his children home from school. She drives a huge SUV. The three older children sit in the back seat. Ten Sofia with braces on his teeth, sitting next to a five-year and seven-year old Anthony Alina. The three younger children were placed in the middle of the machine. This two-year Mayan-year-old Luke, and finally, Gabriel. If you believe the calendar, it is almost a teenager. But her mind - like a newborn.
In 2004, when Mary Margaret and her husband, John, went to the hospital, where there was Gabby, they had no idea what had happened. Gabby skin after birth had a cyanotic shade. The doctors tried to stabilize her condition in the intensive care unit for newborns, and then began a series of tests.
A few days later Williamses learned that their daughter lost in the genetic lottery.
The frontal lobe of her brain was smooth, she was not wearing any crinkles. Her optic nerves, providing a link between the brain and the eyes were atrophied as a result she was left blind. The child suffered two types of heart disease. Her tiny fists unclenched not. Also, the child was "cleft palate" and a violation of the swallowing reflex, and this meant that it would have fed through a tube.
Day by day, Mary Margaret and John Gabby torn between the hospital and 13-month-old Sophia home. Doctors have conducted many genetic tests, but they yielded nothing. Nobody had a clue what a child.
Gabby cried a lot, loved it when it is taken on hands and eat every three hours, like any other newborn. But with age, it has not changed. In four months, she began attacks. And the biggest oddity was that the girl did not grown. It examined a variety of specialists: a neurologist, ophthalmologist, orthopedic surgeon, a cardiologist, a gastroenterologist. And they are all in one voice saying: nothing can be done.
The first few years were very difficult for the family. Despite the fact that the hair and nails grew Gabby, her body did not grow. However, the couple decided she wanted more children. In 2007, he appeared Anthony, next - Alina. By the time Williamses have stopped going to the doctors, and acknowledged that it is impossible to help Gabby.
A girl named Brooke was born a few weeks early, and also with a large number of birth defects. Her pediatrician wrote that she "Syndrome X", because they do not know how else to call it. It took two whole weeks before Walker was allowed to inspect Brook. Walker took blood samples for genetic analysis, and in 2009, his research group has published a summary of its state.
During testing, it was found that organs and tissues Brook develop at different rates. Her mental age, in accordance with standard tests, could be from one to eight months. Age of her teeth - eight years. Age bones - ten years. Only the nails and the hair she grew normally.
All this was evidence that Walker called the "disruption of development." Brooke's body seemed to develop not as a single coordinated unit, but as a collection of separate pieces, deprived of any synchronization.
"It is not just frozen in time. Its development continues, but in an unorganized form "- wrote Walker.
The main question was: why the development of the so-Brooke "collapsed»?
This happened not because of malnutrition, it did not happen because of the hormones. So, the answer had to be in her genes. Walker suspected that the girl has a fault in a single gene or a whole set of genes responsible for the healthy development of the program.
Aging, Walker thought, it is because the development of this program has never turned off. This is a permanent change. Although after we grew up, our bodies change adults are no longer needed. They need a "maintenance».
«If you have created the perfect home, at some point you stop adding to its brick walls. When you have created the perfect building, you will not continue to run around it with screwdrivers. But evolution does not work, because we have not appeared a kind of "switch" with the word "stop", which would allow to stop development at the right time. As a result, we continue to add bricks to our ideal home. At first glance, it does not cause major problems: sagging roof here shattered a window there. But in the end the house does not stand and fall apart »
blockquote> Brooke was special, because it seemed to be born with an integrated "breaker". But finding the genetic culprit turned out to be incredibly difficult. To do this, Walker needed to literally test the entire genome of Brooke, step by step. But much to the chagrin of Walker, Brooke's parents suddenly refused further cooperation with him.
The chance to continue studies he received in 2009, when Mary Margaret Williams Brooke saw a picture on the cover of People magazine and contacted Walker. Within a few months Williamses collaborated with Walker. They did not feed special illusions about the state of Gabby somehow change. But they, at least, hoping to find out what was wrong with her.
In 2011, Walker joined forces with geneticists at Duke University. They began a detailed study of the genomes of Gabby and her parents. After hundreds of tests, the researchers were able to say that Gabby has not inherited the mutation from their parents. However, analysis of the genome has not yet been given researchers a clear idea of what is behind Gabby's disease, and research continues to this day.
October 24, 2013, the year she died Brook. She was 20 years old. Mary Margaret learned about it when she called a friend, after reading about it in a magazine. This news was very upset it.
"Despite the fact that we have never met with the family Brooke, they have become part of our world," - she said.
Gabby is currently alive and doing well. Mary Margaret and John do not plan her funeral. Instead, they think about what happens when Gabby survive them, as John this year was 50, and Mary Margaret - 41.
via factroom.ru
