A world sans pain is……..painful

Roberto is one of rare 17 people in the United States with "Congenital Insensitivity to Pain with Anhidrosis," referred to as CIPA by the few people who know about it. CIPA is an autonomal recessive disorder included in a group of rare diseases termed as hereditary sensory-motor neuropathies. The diagnosis is made usually in early childhood period as most of the children present with recurrent unexplained hyperpyrexia.

Roberto was born in July 2001 and according to his parents was a perfect baby. "Roberto was wonderful. He never cried. He would sleep 23 out of 24 hours a day. He never cried to eat, never cried that his diaper is itching," said his mother, Susan Stingley-Salazar.

But when he was 3 months old, he refused to eat and started loosing weight. His parents tried to feed him with an eyedropper and then a feeding tube was attached to his stomach at 8 months. Roberto was severely susceptible to heatstroke on hot summer days. His parents soon noticed he did not sweat.

"You can't carry Roberto because he sucks your heat from your body. You're hot, sweaty. His body can't sweat like yours so he's just absorbing all of your heat," Stingley-Salazar said.

Meanwhile, Stingley-Salazar, a registered nurse with a degree in molecular biology was looking for specialists who could tell her about her son’s problem. Then came Dr. Felicia Axelrod of the New York University Dysautonomia Treatment and Evaluation Center.

Axelrod has studied this family of "no-pain" diseases for more than 35 years. These genetic disorders affect the autonomic nervous system -- which controls blood pressure, heart rate, sweating, the sensory nerve system and the ability to feel pain and temperature.

CIPA is the most severe and fatal type of the seven types of hereditary sensory and autonomic neuropathy, or HSAN. Overheating kills more than half of all children with CIPA before age 3, Axelrod estimated.

According to Axelrod, levels of pain vary. "For some children it's a mild degree such as breaking a leg, they'll get up and walk on the leg. They feel that something is uncomfortable but they keep on moving," she said. "For other children, the pain loss is so severe that they can injure themselves repetitively and actually mutilate themselves because they don't know when to stop."

All HSAN disorders are recessive genetic disorders -- both parents have to carry the genetic mutation in order to pass it on to a child. But there is less than a 1-in-4 chance that the child will develop it.