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August 26, 2010

Never feel the pain

Normally, the human body will feel the pain when an injury or certain disorders. But it will never be felt by a girl who had the gene mutation since birth. This is experienced by Ashlyn, age 10-year-old girl in Florida.She was born with a congenital pain insensitivity disorders (congenital), that is a rare condition caused by genetic mutations and can not feel pain. Congenital insensitivity of pain is not curable and there is no treatment to cure him. There are only 45 to 50 cases ever reported.

Gene mutations experienced by Ashlyn shaped wrench, so she decreased the sensitivity of pain but she still may feel the warmth and touch someone. Ashlyn did not cry when she was born, while growing teeth, when hungry or when her diaper was wet. The only condition that makes her cry was broken ear drum when she was 3 years old. "Ear drum burst and she was bleeding from her ears, she felt the pressure for the first time," explained Tara Blocker, Ashlyn mother, as reported from Foxnews, Thursday (08/26/2010).

According to Tara, without having the ability to feel pain, Ashlyn often chewed her lower lip when she fell asleep. These conditions have never been made severely swollen. In addition, patients with other congenital pain insensitivity is also frequently injured, such as biting the tip of the tongue, eye damage or even burn themselves on hot surfaces such as stoves.

In her case, Ashlyn had suffered severe burns when her hand is inserted into the washing machine was on, when she was two years old. Although it did not bother her, but her mother (Tara) is very anxious and could only cry. Ashlyn toughest years was when she was a toddler. But although she often suffered bumps, bruises and burns, her parents do not understand why Ashlyn never cried.

Blocker family began to experience a long road after Ashlyn was diagnosed with congenital pain insensitivity by an expert on genetics in 2004. Tara never heard of it before and she and her husband happy, because they finally know the reason why Ashlyn never cried.

In 2004, Dr. Roland Staud, Ashlyn and her family invited to come to the University of Florida, in order to study and learn more about a rare condition on Ashlyn.
Team of researchers conducted a preliminary test, that is by taking blood Ashlyn and her family to obtain a DNA sample. Five years later in the year 2009, a team Florida University, determined that Ashlyn, has two SCN9A gene mutations, which shut down a molecule, involved in the direction of nerve impulses to the brain.

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

Finally, Dr. Staud and family, decided not to block the gene therapy Ashlyn, in order to avoid the potential for triggering gene becomes overactive. "I would never want to take risks, play with a gene that could eventually make Ashlyn feel the pain that is" very extreme, "explained Tara.

Among the many physical tests, psychological, genetic and neurological disorders that have been conducted on Staud Dr. Ashlyn, he found out that Ashlyn is sensitive to touch, temperature and vibration, but not sensitive to pain and odor. In the year 2009, Ashlyn broken ankle in a bike accident. It is known to parents after showing symptoms of swollen Ashlyn body two days later.   

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

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