Pain: A Curse or A Gift?

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By: Kimberly Shen

One night, 13-year old Ashlynn Blocker was stirring ramen noodles. Suddenly, the spoon slipped from her hand and fell into the boiling pot of water. Without thinking, she reached her hand in to fish out the spoon. She then took out her hand and spent a few minutes looking at it. Afterwards, she went to the sink to run some cold water over her hand and called out to her mother, “I just put my fingers in.” Her mother then rushed to her side to examine the burns and put ice to her hand, relieved that the injury was not worse than it was but fearful for her future well-being.

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(via adsoftheworld)

On the surface, Ashlyn Blocker might seem like any other middle-schooler who enjoys playing the clarinet and watching pageants in her free time. However, there is one thing that distinguishes her from others. Born with anhidrosis, also known as CIPA, Ashlyn has a rare genetic disorder that affects the nerve endings and prevents her from experiencing any painful sensations. From the time she was born, pain was a completely alien sensation to her. Indeed, her parents were not even aware of her condition until she developed a corneal abrasion when she was 8-months old. Noticing that their infant daughter was still cooing and smiling even though she had a severe eye infection, Ashlyn’s parents knew something was not right. After the parents brought her to Nemours Children’s Clinic in Jacksonville, Florida, doctors ran tests on her for over a year. Eventually, Ashlynn was diagnosed with “congenital insensitivity to pain,” a condition that only affects a hundred people around the world.

News of Ashlyn’s unusual condition later reached Dr. Roland Staud, a rheumatologist at the University of Florida who conducts research on chronic pain. Over a four-year period, Staud tested Ashlyn’s genetic material and discovered mutations in her SCN9A gene. Realizing that these mutations prevented Ashlyn from experiencing pain, Staud and his colleagues considered the option of using gene therapy to try to help her experience pain more readily. However, because research into this particular area is still ongoing, they feared the possibility of inadvertently setting off other conditions like epilepsy or hypersensitivity to pain.

In fact, Staud’s work parallels the work of a British geneticist named Geoffrey Woods, who first found the link between the SCN9A gene and pain insensitivity. On the surface of the average body, there are numerous pain-sensing nerves that fire more frequently whenever the body comes into contact with something sharp or hot. Generally, the SCN9A gene is supposed to make molecular channels that generate electrical impulses that would make us aware of the pain we experience. However, for individuals like Ashlyn, these electrical signals are never generated because mutations hinder the SCN9A gene from making the necessary molecular channels. Reflecting on his discoveries, Woods noted, “It’s an extraordinary disorder. [People with this disorder] die at a younger age because of more risky behavior. It’s quite interesting because it makes you realize pain is there for a number of reasons, and one of them is to use your body correctly without damaging it and modulating what you do.”

Perhaps living a painless life isn’t so painless after all.

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