Steven Pete and his brother were born with the rare genetic disorder congenital analgesia. They grew up – in Washington state, US – with a sense of touch but, as he explains in his own words, without ever feeling pain.
It first became apparent to my parents that something was wrong when I was four or five months old.
I began chewing on my tongue while teething. They took me to a paediatrician where I underwent a series of tests.
At first they put a cigarette lighter underneath my foot and waited for my skin to blister. Once they saw that I had no response to that then they began running needles up and down my spine. And since I had no response to either of those tests they came to the conclusion that I had what I have – congenital analgesia.
By which point, I had chewed off about a quarter of my tongue through teething.
We grew up on a farm. My mum and dad tried to be protective without stifling my brother and me. But when you’re out in the country, especially if you’re a boy, you’re going to go out and explore and get in a little mischief.
So during my early childhood I was absent from school a lot due to injury and illness.
There was one time, at the roller-skating rink. I can’t recall all of the details, but I know that I broke my leg. People were pointing at me because my pants were just covered in blood from where the bone came out. After that, I wasn’t allowed to roller skate until I was much older.
When I was five or six years old, I was taken away from my home by child protective services. Someone had reported my parents for child abuse.
I was in the state’s care for, I believe, two months. And during that time I broke my leg before they finally realised that my parents and the paediatrician were telling the truth about my condition.
At school, a lot of children would have questions about my condition. They would ask: “Why do you have a cast on?” Most of the time I was in a cast, until I was around 11 or 12.
I was involved in fights quite frequently. Whenever a new kid came to school, the children would try to get that person to come and pick a fight me, as a kind of introduction to the school. They would say: “If you can’t feel pain, you will once I’m done with you.”
Nowadays, I am not a particularly reckless person. I believe I’m actually more vigilant than most people because I know that if I were to injure myself I wouldn’t know how severe it would be.
Internal injuries are the ones I fear the most. Appendicitis is what really scares me. Usually whenever I have any type of stomach issues or a fever I go to the hospital just to get it checked out.
The last time I had a broken bone, my wife actually noticed before I did. My foot was swollen, black and blue, so I went to the doctor and had an X-ray and they told me that I had broken two of my toes and they wanted to put a cast on it.
I had to go to work the next day. If had a cast on I wasn’t going to be able to work for quite some time so I just told them I’d take care of myself. I went home and took some duct tape, taped it up, put my boots on and went to work that next morning.
One of the things I’m going to have to face soon is the fact that I won’t have my left leg anymore. I’ve had quite a bit of surgery on my left knee in the past and it’s got to the point where my doctors have told me to wait until it gives out completely. Once that occurs they’re just going to have to amputate.
I really try not to think about it. I try not to let it get to me.
But I can’t help thinking congenital analgesia was partly why my brother chose to take his own life.
His back was getting progressively worse. He was pretty close to graduating from a local college and the doctors told him that probably in the next year, year-and-a-half, he would be in a wheelchair.
He was an “outdoors man” – he liked to be outside, to fish and to hunt. But he tried to see about getting some sort of financial disability assistance once this would all happen. And pretty much what the judge told him was: “If you’re not in pain then you have no reason to be on any type of assistance.”
The thing is, with our condition, a lot of people see us and they might assume that we’re healthy.
But they have no idea that my body could give out at any time, that I ache all over. I have severe arthritis in my joints. It’s not painful – I don’t feel pain – but it’s hard to move around sometimes.
It feels like a compression, a throbbing compressed feeling in my joints. On a bad day it makes me very cranky when I have that feeling all day, because it’s just a nuisance. It limits your mobility and your joint isn’t able to move as much as it should.
As for doctors, I think they understand the condition. They just don’t understand the human component of it – the psychology of what can happen when you grow up not being able to experience pain.
What is the cause, biologically?
… Congenital analgesia, an autosomal-recessive trait, has been linked to a mutation in the SCN9A gene. (1, 2) Any slight mutation of this gene makes it completely non-functional, disabling the brain’s ability to interpret input pertinent to health. More scientifically, the SCN9A gene is important for encoding the alpha-subunit of the voltage-gated sodium channels, which are responsible for assisting in action potentials and signal firing amidst our neural connections in the body and brain. (2) Experiments done by Cox, et. al, shows that SCN9A, when mutated, produces sodium channels that do not function well, resulting in a decreased signal firing rate, whereas in wildtypes whose SCN9A gene was normal, the sodium channels assisted in action potentials and signal firing was normal. …
(1) “Congenital insensitivity to pain” http://en.wikipedia.org/wiki/Congenital_analgesia
(2) Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience pain.2006. Nature: 444, 894-898