What does Familial Dysautonomia mean?
Dys-auto-no-mia literally means the dysfunction of the autonomic nervous system. The autonomic nervous system controls involuntary functions, such as swallowing, temperature and blood pressure regulation. Individuals with FD cannot regulate these autonomic functions. In addition, they have problems in perceiving various sensations, such as pain and heat. One of the most striking manifestations is the inability to produce overflow tears with emotional crying. Severe eye problems are common because of the resulting dry eye and the absence of corneal response to foreign objects in the eye. Many infants have an abnormal suck at birth and feeding difficulties may persist, resulting in poor weight gain, as well as repeated pneumonia due to misdirected swallows. Other common manifestations are indifference to pain (including minimal or no response to bone fractures), inappropriate perception of heat and taste, excessive sweating, fluctuating blood pressures, gastrointestinal problems, poor sp