This Extremely Rare Pain-Blocking Disorder Is Easily Explained By Science

Occasional physical pain is a normal part of most people's lives. Yet chances are that many of us rarely think about the underlying biological processes of pain. Experiencing pain is the result of neurotransmitters in the brain that communicate with the body's sensory signals via nociceptors, which can also be protective against injuries. Depending on the underlying cause, pain can either be short-term (acute) or more long-lasting (chronic). No matter what the source of physical pain, the fact is that everyone experiences it differently. It's even possible for some people to have issues with experiencing any pain whatsoever. While considered extremely rare, such incidents are seen in a condition called congenital insensitivity to pain (CIP).

As its name suggests, CIP causes a lack of ability to feel pain, and it is present at birth. Rather than being a single disorder, CIP is actually a group of disorders with multiple subtypes involving different genes. CIP may also be classified as either a functional or developmental disorder. With functional CIP, you may still have nociceptors to detect pain, but they do not respond to pain sustained from tissue damage. Developmental types of CIP, on the other hand, cause issues with nociceptor development and sustainability. Both types of CIP can limit your ability to feel pain associated with injuries, infections, and cold and heat exposure. With this in mind, some of the most common signs of CIP include burns, cuts, unexplained bruises, chronic skin infections, bone fractures, joint damage, and eye injuries. CIP also increases your risk for repeated injuries and poor wound healing.

CIP is caused by genetic variants that specifically affect nociceptor development or function by preventing these nerve cells from telling your brain that the body is experiencing pain. While there are several types of genes associated with CIP, SCN9A and NTRK1 variants are the most common. Depending on the gene affected, CIP may also present with intellectual disabilities or developmental delays. Regardless of type, CIP is thought to affect approximately one in every million people globally, according to the National Organization for Rare Disorders. Yet as awareness of the condition continues to grow, it's possible that there may be more people affected. Scientists also do not yet know the precise numbers of people impacted within each of the seven known genetic variations thought to cause CIP.

If a parent or caregiver suspects CIP in a loved one, it's important to see a doctor for guidance. There isn't a single diagnostic test available for this condition. Instead, a healthcare provider may suspect CIP based on physical signs, as well as overall health and family history. They will also rule out other possible conditions with similar signs, such as osteogenesis imperfecta, a rare "glass bone" disease. The only way to confirm CIP and the exact subtype is through gene testing. While the range of genetic disorders is quite broad, CIP is not considered common.

There's currently no cure for CIP. Treatments for this condition largely focus on preventing and managing injuries or infections that may develop as a result of pain insensitivity. It's important for caregivers to be on the lookout for signs of injury of infection on a daily basis, especially in children. A doctor will likely recommend regular physical checkups to detect any potential issues, as well as yearly visits with an eye doctor and orthopedist. Adherence to 6-month dental checkups is important for everyone, but especially for people with CIP because of the increased incidence of injuries to the teeth and inside of the mouth.

While CIP can be managed, there are some considerable risks associated with this disorder. In particular, the inability to feel pain can increase the risk of injuries since you might not detect early warning signs of impending physical danger. For this reason, a doctor will recommend specific strategies to help reduce injury exposure as much as possible. Examples include avoiding contact sports and other high-risk activities, as well as staying indoors during a heat wave (which can be brutal on the body) or extreme cold. It can also be helpful to establish a regular schedule for skin care techniques to help prevent infections. Depending on the severity of CIP, some people may also need surgery or supportive devices to help ensure safety throughout daily life.