CIPA is the acronym for Congenital Insensitivity to Pain with Anhidrosis. CIPA belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). Another name for CIPA is HSAN IV. Individuals affected with CIPA have impaired autonomic, sensory and motor functions.
Anhidrosis, the inability to sweat, predisposes affected individuals to high fevers.
Insensitivity to superficial and deep pain results in mutilation (e.g., of tongue and cheek), neuropathic joints, risk of unrecognized injury (burns, fractures), and corneal ulceration. Inheritence is autosomal recessive meaning an affected individual must receive two copies of the mutated gene, one from each parent. No cure for this disorder exists.
At the age of 3 months old (He weighed 12 pounds) Roberto refused to eat, he would sleep 23 out of 24 hours a day and he never cried. He was diagnosed with Failure to Thrive.
When he was 8 months old he weighted 12 pounds and the physicans after much prodding by his mother placed a feeding tube. At the same time they did oral surgery and removed multiple teeth. Roberto began to gain weight well. He had difficulty focusing on anything for more than a split second. At the age of 11 months he was hospitalized for heat stroke, his core body temperature was 108.
Over the next year and a half there were multiple hospitalizations for infections is joints and his mouth. At the age of 2 ½ he was hospitalized with a broken foot that he walked on for days before we knew anything was wrong. This finally led us to New York University where Roberto was diagnosed with CIPA. Was this a relief (finally after 2 ½ years a diagnosis) or was it your worst nightmare?
At least now we knew what we were up against and it was nice hearing it from people who had experience. No one prior to this time ever mentioned that Roberto might he hyperactive, yet at NYU they stated that he was the most hyperactive child with CIPA that they had ever seen.
Roberto is now 5 ½ years old. His baby teeth are all gone. Several of his permanent teeth have been removed, 4 teeth remain but they serve no function when it comes to chewing. His hands are wrapped most of the time to prevent him from chewing on them. He continues to mutilate his tongue and has lost the entire front left section. Eating is one of his least favorite activities.
He takes multiple medications for hyperactivity and behavior and medication to help with sleep. He still has his feeding tube, which all medications are given thru. When Robertos body temperature starts to elevate he becomes very fussy and doesnt understand what is happening to his body. We must act quickly to administer both tylenol and motrin thru the feeding tube to aid the body in cooling down.
Robertos dark eyes and big smiles bring joy to everyone he meets. Our hope is that people will aquire a whole new appreciation for pain after hearing about his diagnosis and realize that pain is a very important part of their life.