Rare Disease Report

7-Year-Old Enters Triathlons to Treat His Own Rare Disease (ROHHAD)

MARCH 30, 2017
RDR Staff
On the small island of Malta, a small media outlet captured a 7-year-old boy running, swimming, and biking.
That video has been seen over 5 million times and has garnered awareness of a rare disease called ROHHAD [rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD)].
The 7-year-old boy is Jake Vella and because he has ROHHAD, he enters triathlons to keep is weight under control. 

ROHHAD is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions) and the endocrine system.
Jake grew up a healthy and happy child. Then suddenly, when he was 5-years old, he gained over 20 lbs in just 6 months. Through some research, his parents suspected he had ROHHAD, a rare condition that about 75 people in the world have.
At present, it is unclear how to best manage Jake’s condition but the family is hoping a strict diet and a regular exercise routine will help. As such, Jake has joined his father in training for triathlons.


The pathophysiology of ROHHAD is currently not know and patients with the condition show a wide range of symptoms. Signs and symptoms tend to occur in the first 10 years of life and may include:
  • Dramatic, unexplained weight gain
  • Hypothalamic dysfunction such as inability to maintain normal water balance in the body; hypothyroidism; early or late puberty; growth hormone deficiency; and/or high prolactin levels
  • Dysregulation of the autonomic nervous system such as inability to regulate body temperature, slow heartbeat, excessive sweating, altered pupil response to light, strabismus (crossed eyes), and/or intestinal abnormalities
  • Alveolar hypoventilation with very shallow breathing during sleep.
There is currently no cure for ROHHAD and treatment is designed to control signs and symptoms presented, including:
  • Children may be referred to nutrition services to help prevent additional weight gain
  • Hypothalamic dysfunction is often managed by an endocrinologist who may recommend hormone replacement therapy (such as growth hormone), a strict fluid intake regimen, and/or other measures
  • Children with alveolar hypoventilation will be referred to a pulmonologist and/or a respiratory therapist
  • Due to an increased risk for certain tumors children should be screened periodically for these tumors.

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