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.

ROHHAD

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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