𝐃𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 & 𝐃𝐢𝐬𝐚𝐛𝐢𝐥𝐢𝐭𝐢𝐞𝐬 𝐀𝐰𝐚𝐫𝐞𝐧𝐞𝐬𝐬

12. Congenital Insensitivity to Pain

"Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured."

Congenital insensitivity to pain (otherwise known as CIP or congenital analgesia) is one or more rare conditions present at birth in which a person cannot feel pain sustained by injury, accident, or otherwise as well as decreased or absent sweating (anhidrosis). Because feeling physical pain is vital for our survival as human beings, CIP is a very dangerous condition.

Before someone asked me to write this chapter, I actually had never heard of CIP - so I went researching and found some interesting things that I'll share here.

First of all, I found a few conflicting ideas on whether it is a truly genetic disease or in fact, a disorder. Studies on it differ on the particulars there.

But what doctors and scientists alike can agree on are the symptoms/features which include thick, leathery skin on the palms, misshapen fingernails or toenails, bald patches on the scalp, hyperactivity or emotional instability, intellectual disability, and for those who have anhidrosis as well, recurrent, extremely high fevers and seizures brought on by high temperature. Some people with CIPA also can have weak muscle tone when they're younger but as they age, gain a normal level of muscle tone and strength.

The causes though have become clearer over the years. CIP(A) is actually caused by a mutation in a gene known as NTRK1. The NTRK1 gene provides instructions for creating proteins that bind to another protein called NGFβ. The NTRK1 gene is important for the survival of nerve cells being that it transmits pain, temperature, and touch sensations. So when a mutation like this happens, it can result in the loss of pain and the ability to feel it. In addition, those with CIPA lose the nerves that control the sweat glands.

As with all things though, I did find another study that claims differently - that in fact it is not the NTRK1 gene but the SCN9A gene that causes this disease/disorder and more rarely can even be caused by mutations in the PMRD12 gene.

The symptoms of CIPA can be so severe that even unintentional self-injury such as biting the tongue, lips, or fingers, may lead to spontaneous amputation. People with this condition also heal slower from skin and bone injuries which in turn, can even lead to chronic bone infections.

CIPA is such a rare disorder that only about 100 people worldwide are affected. In most cases, it can be more deadly and most toddlers diagnosed don't survive.

I think that's what makes those who have this condition survivors - to be able to live through this. Especially being that as of today, there is still no cure. Because those who have it don't feel pain, preventing injuries and finding them quickly is the most important step and indeed the only one in fighting it.

I hope that one day there will be more studies done to help those who have this and to help them lead fairly normal lives without the worry of injury. Hopefully one day there will be more awareness and maybe even through this, I can help bring that about. At least, that's my wish.

To those who have this condition, I hope I did it some justice. If anything you think should be added or edited, please don't hesitate to let me know. And I hope that we all learned some new things today.

Next up, I'll be talking about epilepsy and the affects it has on the individuals who have it. I hope y'all will check it out :) If anyone has more suggestions on what you'd like me to write about next, comment below or PM me - I'd love to hear from you! :)