Have you ever wished not feeling pain anymore? Most of us associate this thought automatically with something positive. No more problems with the knee, the back or the legs, who would not want that? However, pain is a very useful body mechanism that protects us from harmful external stimuli. But what would happen to us, if we did not experience pain at all in a dangerous environment?

Ashlyn Blocker (17 years) was diagnosed with congenital insensitivity to pain with anhidrosis (CIPA), a disorder making individuals unable to feel pain and temperature combined with decreased (or absent) levels of sweating.

Since the day Ashlyn was born, she has not felt a single pain stimulus. At first, her parents appreciated her not crying at all, but when she was about 6 months old, this appreciation turned into a curse when Ashlyn’s left eye was swollen. An ophthalmologist found a massive corneal abrasion, but Ashlyn was not bothered by this and kept smiling as always. No feeling of pain on her eye and no crying. The specialist assumed she did not have corneal sensation in her eyes and therefore Ashlyn was referred to a Children’s clinic. Before getting an appointment, she had already been chewing off part of her tongue with her emerging teeth. After 18 months, and several tests later, her parents were told her daughter was not able to feel pain. The doctor stated he did not know of any other case similar to hers and therefore could not help them out in any way.

But what does it mean for her to not feel any pain?

For any ordinary child, pain is for sure unpleasant though essential in order to learn what is harmful and should therefore not be repeated. If touching a flame hurts the finger, he or she will not try touching the flame again because it hurts. For Ashlyn, this feedback is not present and therefore she is not able to judge what should better be avoided. For this reason, she was once fishing out a spoon that had fallen into boiling water using her HANDS! Only a few minutes later she noticed white scars on her hands and called her mother. From this moment on, her mother has been finding it difficult to leave her child in the kitchen without someone looking after her.

In school, her classmates have found it difficult to believe her condition. Sentences like “Are you a superman?” or “Would it hurt if I were to stab you in the arm?” were common. Ashlyn kept explaining to them she can feel pressure, but not pain!

But there is hope for treatment: Researchers have found a scientific explanation for the lack of pain sensation. Her symptoms are the consequence of two defective copies of the SCN9A gene. Said gene belongs to a family of genes involved in giving instructions for making sodium channels. These are essential to let sodium ions pass in and out of the cell which is the basis for transmission of electrical signals. If the channels are not working properly, the transmission of the electrical signals is impaired as a result. The reason we feel a painful stimulus is the successful transmission of these signals across pain nerve cells (also called nociceptors). In Ashlyn, those nerve cells do not send pain signals due to the defective SCN9A gene. This makes therefore a good candidate in drug development.

According to Professor Geoffrey Woods from the Cambridge Institute for Medical Research at Cambridge University, “we understand far more about excessive pain that we know about the lack of pain, however both are equally important to drug treatment.”

I believe there is a lack of awareness in the field of insensitivity to pain. We put our focus too much towards the other extreme when people are overly sensitive to pain. This indeed is reasonable, as more cases are reported of pain sensitivity. My impression however is individuals with this condition tend to only focus on treating the pain’s symptoms without thinking about why they constantly feel pain. This unawareness I believe is due to the pharmaceutical industry which is only interested in advertising medications for relieving the symptoms of pain rather than treating the root of the problem.

Thank you very much for reading! Next time I will present to you a rather famous case of a man who can withstand extreme temperatures.

See you next time!

Patrick





The New York Times Article

More information about the SCN9A gene

An article of a man feeling physical pain in a peculiar way