Familial Dysautonomia

FD is a genetic disease that affects males and females, primarily causing dysfunction of the autonomic and sensory nervous systems. These control bodily functions which are often taken for granted, such as:

  • Regulation of blood pressure and body temperature.
  • Normal swallowing and digestion.
  • Ability to respond to stress.

Children with FD may drink fluids and be unaware that abnormal swallowing is misdirecting the fluid into the lungs, rather than the stomach, causing lung problems. Sensory abilities are needed to protect the body from injury by ensuring prompt recognition, so that proper treatment can be given. Children with FD often do not feel pain and may break a bone, or burn themselves, without any awareness of the injury. This is due  to  the severe depletion of peripheral neurons.

PHYSICAL SYMPTOMS

  • Crying without tears is one of the most striking symptoms of FD. Other symptoms possibly present are:
  • Poor suck at birth, drooling or feeding problems.
  • Hypotomia (poor muscle tone) or “floppy baby” signs.
  • Delayed developmental milestones such as walking or speech.
  • Inappropriate temperature control with very high fevers or very low temperatures.
  • Wide swings in blood pressure.
  • Episodic vomiting.
  • Frequent lung infections or pneumonias.
  • Decreased reaction to pain, or no reaction at all.
  • Poor weight gain or growth.
  • Excessive sweating.
  • Blotchy reddening of skin with excitement or eating.
  • Cold hands and feet.
  • Smooth tongue (diminished number of taste buds).
  • Early spinal curvature i.e. scoliosis.
  • Intelligence is normal despite delays in walking and speech