A mysterious disease

What is ROHHAD?

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation is an extremely rare childhood disorder that?s difficult to diagnose and treat. There are 75 known cases worldwide. Most patients begin life as healthy babies but in early childhood start to rapidly gain weight. Nearly all develop serious breathing problems.

How does the disorder affect the body?

The disease strikes the pearl-sized part of the brain called the hypothalamus, which sends signals to the rest of the body to regulate automatic functions such as breathing, heartbeat, body temperature and digestion.

How does ROHHAD put children at risk?

Children with ROHHAD typically have shallow breathing that, if not addressed, deprives the brain of oxygen. That can lead to neurological disabilities, seizures or cardiac arrest. Rapid obesity can also cause heart disease.

What are other symptoms?

Sudden weight gain of more than 20 pounds in six to 12 months is the most noticeable symptom. Some patients plateau in weight years later. Other common signs are benign tumors, trouble metabolizing food, gastrointestinal problems, excessive or diminished thirst, decreased sensitivity to pain and poor circulation, leading to abnormally cold hands and feet.

Is it preventable?
No one knows what causes ROHHAD, and there?s currently no way to prevent it. There?s no cure.

Does any other disorder resemble ROHHAD?

ROHHAD is a disease of the autonomic nervous system and is similar in some aspects to Congenital Central Hypoventilation Syndrome, a genetic condition that appears at birth and causes breathing problems.

Source: Center for Autonomic Medicine in Pediatrics at Children?s Memorial Hospital