Genes mutations, this girl never feel pain

Genes mutations, this girl never feel pain


Normally, the human body will feel pain when injured or certain disorders. But it will never be felt by a girl who had mutations in genes from birth.
gene mutation Genes mutations, this girl never feel pain
This is experienced by Ashlyn, 10-year-old girl from Florida. she was born with congenital pain insensitivity abnormalities (congenital), which is a rare condition caused by a genetic mutation and can not feel pain.

Congenital insensitivity of pain is not curable and there is no treatment to cure it. There are only 45 to 50 cases have been reported.

Gene mutations experienced by Ashlyn-shaped wrench, so it has decreased the sensitivity of pain but he still may feel the warmth and touch someone.

Ashlyn did not cry when she was born, when teething, when they’re hungry or when his diaper is wet. The only condition that makes her cry was ruptured eardrum when he was 3 years old.

“Ruptured ear drum and he was bleeding from the ears, she felt the pressure for the first time,” says Tara Blocker, Ashlyn’s mother, as reported by FoxNews, Thursday (08/26/2010).

According to Tara, without having the ability to feel pain, Ashlyn often chewed his lower lip when he fell asleep. These conditions have made her severely swollen.

In addition, patients with congenital insensitivity to pain of others is also frequently injured, such as biting the tip of the tongue, eye damage or even burn yourself on hot surfaces such as stoves.

In this case, Ashlyn had suffered severe burns when his hand put in the washing machine is on, when he was 2 years old. Although it did not bother her, but she is very anxious and could only cry.

Ashlyn’s toughest years was when he was a toddler. But although he often suffered bumps, bruises and burns, parents do not understand why Ashlyn never cried.

Blocker family began to experience a long way after Ashlyn diagnosed with congenital insensitivity to pain by a geneticist in 2004. Tara never heard of it before and she and her husband happy, because ultimately they know the reason why Ashlyn never cried.

In 2004, Dr. Roland Staud invited Ashlyn and her family to come to the University of Florida in order to study and learn more about a rare condition in Ashlyn.

The research team conducted a preliminary test, by taking blood Ashlyn and her family to get a DNA sample. Five years later in 2009, a team of Florida University determines that Ashlyn has two mutations in the gene SCN9A, which cover a molecule involved in the direction of nerve impulses to the brain.

SCN9A gene is a gene that sends pain messages to the brain and nerve impulses. Mutations of this gene can cut both functions, thus causing pain insensitivity. And when this gene becomes overactive, it can cause hypersensitivity.

Dr. Staud and the family eventually decided not to block the gene therapy Ashlyn for the sake of avoiding potential triggers gene becomes overactive.

“I would never want to risk tinkering with genes that could eventually make Ashlyn extreme pain,” explains Tara.

Among the many tests of physical, psychological, genetic and neurological disorders that have been conducted by Dr. Staud on Ashlyn, she found that Ashlyn is sensitive to touch, temperature and vibration, but not sensitive to pain and bad pain.

In 2009, Ashlyn broken ankle in a bicycle accident. It is known to his parents after Ashlyn showing symptoms of swollen body two days later.

Although injuries are not so great because he did not feel anything, Ashlyn’s parents remain concerned and aware of the danger of infection. Finally, the family asked him to use a wheelchair to avoid the development of infection and reduce the pressure.


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