What is Familial Dysautonomia?

Familial dysautonomia is a rare condition found in some Jewish infants. About .03 percent of people who have Eastern European Jewish ancestors are carriers of the gene responsible for it. This means parents can carry the gene and pass it on to their children, without having the condition themselves. It affects both female and male infants.

Dysautonomia affects two systems of the body: the autonomic nervous system and the sensory nervous system. The autonomic nervous system is responsible for controlling certain processes in the body, such as blood pressure and temperature regulation, tear overflow, swallowing, digestion, and stress response. It even helps control breathing when oxygen levels are less than optimal. The sensory nervous system controls things like temperature perception, tasting, and reactions to pain that serve to protect the body. In people with familial dysautonomia, these systems don’t function as they should.

One of main symptoms of familial dysautonomia is the lack of tears. Infants with the condition may also have poor muscle tone, difficulty sucking, blotchy skin, problems maintaining temperature, and congestion that results from trouble with swallowing. In older children, symptoms include delays in walking and speaking, poor balance, extreme drops in blood pressure that depend on posture, vomiting, drooling, excessive sweating, and abnormal temperatures. Many children also experience episodic vomiting, which is a condition marked by periods of severe vomiting, and scoliosis, which is an abnormal curvature of the spine. Some children also have cold, swollen feet and hands, dry eyes, decreased sense of taste, and frequent infections of the lungs.

Some children with this condition experience something called dysautonomic crisis, which occurs when an affected child has an extreme physical reaction to stress. In such a case, the child may feel nauseous and vomit. Her blood pressure may drop, she may drool, her heart may race, and her skin may become blotchy. She may also become irritable or have other personality changes. Unfortunately, some children with familial dysautonomia experience these episodes every day, without a stressful occurrence to trigger them.

Doctors often perform genetic testing and physical examinations to diagnose familial dysautonomia. In physical examinations, doctors examine the appearance of the tongue, the child’s deep tendon reflexes, tears during emotional crying, and other factors. They also note whether the child's parents are of Eastern European Jewish descent.

Treatment for this condition includes artificial feeding, physical and occupational therapies, respiratory care, medication, and special feeding methods as well as other treatments. Sometimes surgical treatments are used to manage eye-related issues, fix spinal problems, and handle digestive issues. The prognosis depends on a number of factors, including the severity of the condition and how quickly it is detected. At this time, there is no cure for the condition. Many with familial dysautonomia die at young ages, and only about half of patients live to be 40 years old.