The Absence of Pain: Understanding Familial Dysautonomia

Imagine not being able to feel any pain. It sounds like a pretty nifty superpower, doesn't it? Believe it or not, there are people in the world who are unable to feel any pain at all. However, it's not a magical power and there's nothing super about it. In fact, not being able to feel any pain can actually be a very dangerous condition known as Familial Dysautonomia.

What is Familial Dysautonomia?

Familial Dysautonomia is a genetic disease that can affect babies of Jewish descent. Present at birth, Familial Dysautonomia (also known as FD) is the result of the nerve fibers failing to develop properly, causing a dysfunction of the autonomic and sensory nervous systems. It can affect both male and female Jewish babies.

Many of the functions that we take for granted are controlled by the autonomic nervous system, such as the regulation of our body temperature and our blood pressure, swallowing, digestion, crying and even the need to breathe when we aren't getting enough oxygen. The sensory nervous system, which is also affected, controls our reactions to pain (essential to keeping us safe), our perceptions of hot and cold, as well as our ability to taste. Needless to say, the absence of these essential bodily functions could prove dangerous, if not downright deadly.

Symptoms of Familial Dysautonomia

While not a guarantee that a child will be afflicted with FD, quite a few Jewish babies that suffer from Familial Dysautonomia tend to be breech presentation births. Also, many babies that have Familial Dsyautonomia are what are often referred to as "floppy babies," meaning that they have very poor muscle tone and they frequently have a very weak or non-existent sucking ability.

Babies that have FD often tend to have a greater risk of respiratory congestion and pneumonia because of swallowing difficulties. They may have difficulty maintaining their body temperature and, in some cases, their skin may appear very splotchy. As they grow, children with Familial Dysautonomia tend to fall short of many of their developmental milestones, often being slower to walk or talk than other children of their age. When they do walk, they often show signs of poor balance and unsteadiness on their feet, and children with FD usually show a poor growth rate and weight gain.

During their early years, parents may discover that the FD child has a tendency to hold their breath (often to the point of passing out) and they will often have very dry eyes and can be prone to corneal scratches and abrasions. Respiratory infections are common and the child may have cold, puffy extremities and suffer from a condition known as Orthostatic hypotension, where the blood pressure drops suddenly with a change in posture (this can cause additional fainting spells, particularly if they sit or stand too quickly).

Also interesting to note is that 90% of children that suffer from Familial Dysautonomia also show signs of Scoliosis (a curvature of the spine) before the age of 13.

Who is at Risk?

FD strikes people of Eastern European Jewish ancestry and it's believed that one in every 27 individuals may carry the gene that is responsible for Familial Dysautonomia. In many cases, parents have no idea that they are a carrier until they have a child that is diagnosed with FD. Fortunately, there are now both prenatal and carrier tests that can tell people of Ashkenazi Jewish backgrounds whether or not they are a carrier or if their child will be born with this condition.

Diagnosis and Treatment of Familial Dysautonomia

There are many tests that can be run in order to determine if a child suffers from FD. The first is a clinical diagnosis, during which the pediatrician will look into the child's background as well as checking the tongue for the absence of fungiform papillae on the tongue and examining the eyes and tear ducts for signs that the child has no overflow of emotional tears. Additionally, a definite diagnosis can be made with a simple blood test which can show mutations in the IKBKAP gene.

While there is no cure for FD, there are ways of treating this inherited condition. By mixing preventative treatment measures with both symptomatic and supportive measures, treatment can be tailored to the patient's individual needs. At different stages of the FD patients' life, there will be new challenges and obstacles to overcome, so it's very important to work closely with your pediatricians, specialists and care support team.

Sources:

The Familial Dysautonomia Foundation - http://www.familialdysautonomia.org/ - The latest information on FD, treatments and studies