Familial Dysautonomia Symptoms of FD

A newborn with FD is typically "floppy," "skinny," and may have difficulty sucking. A newborn may experience frequent aspiration pneumonia (pneumonia causes by misdirecting liquid into the lungs) and may require an "NG" tube (a tube threaded down the baby's nostril into the stomach) for nutrition. Eventually, the baby's formula may need substantial thickening in order for the baby to coordinate a safe swallow.

The toddler with FD has difficulty gaining weight and growing . Toddlers with FD tend to wobble and stumble, falling frequently. Their eyes are often dry which may lead to numerous corneal abrasions. They don’t produce overflow tears. Often, they drool and they may need to wear a terrycloth sweatband to wipe their chins dry. Most toddlers receive physical, occupational and speech therapy for developmental delays. The toddler may pass out if belly-laughing or crying, especially following a startle. Many parents find themselves dialing for emergency care only to watch their child regain consciousness and then go about playing as if nothing occurred.

Children and adults with FD have difficulty regulating their blood pressure so they will often feel dizzy and will simply collapse when rising from bed or sitting in a chair. Due to the decrease in pain sensitivity, those with FD are unaware that they are hurt so, for example, cuts, bruises, insect bites, broken bones, cracked teeth, and other forms of physical distress often go unnoticed. Most alarming is when individuals with FD enter a state of "autonomic crisis", usually triggered by illness, intense stress or certain chemicals found in food or medication. During the autonomic crisis, they will experience skyrocketing blood pressure and heart rate and will endure uncontrollable and violent retching.

Additional indicators of FD include a smooth tongue which may decrease taste sensations, slow digestion, swings in body temperature, cold hands and feet, scoliosis (curved spine) and kyphosis (head thrusting forward and hanging low).