Brothers Are One of Only Two Known Sibling Pairs with ROHHAD

Max Moore normally loved going on family walks with his mom Mandie, dad Devin, and brother Chase (age four at the time) throughout their neighborhood. But when he was eight years old, something shifted. Max’s legs would ache; his fatigue was extreme and sometimes debilitating. As the weeks and months passed by, Max’s condition seemed to worsen: sleep apnea, breathing and gastrointestinal difficulties, autonomic nervous system dysfunction. After gaining 100 pounds over the course of a year, his parents knew there was something serious going on. Mandie and Devin had taken Max to doctor after doctor, specialist after specialist—but nobody had any answers for the family. It wasn’t until Max was 10 years old and the family visited a rare disease clinic that doctors diagnosed him with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, a rare disorder called ROHHAD.

A Family Affair

According to Beth Galvin’s article in Fox 5 Atlanta, there are under 300 people worldwide diagnosed with ROHHAD. Of these, only four are siblings. Max and Chase fall into this group. They are one of only two sibling pairs in the world who were diagnosed with ROHHAD; Chase was diagnosed just a few months after Max. 

Since their diagnosis, Max (now 12 years old) and Chase (now 9 years old) are under the care of Dr. Ajay Kasi from Children’s Healthcare Atlanta. There is no cure for ROHHAD. In fact, there are no approved treatments either. But interventions such as immunoglobulin therapy and ventilators have shown benefit. Through these interventions, Max has lost weight and both boys have sustained oxygen levels, an important factor in ROHHAD treatment. 

Navigating an uncertain rare disease terrain is challenging, to say the least. But Mandie and Devin move forward with a commitment to support their sons no matter what. They have found a close-knit community on Facebook and also share their mantra: to live each day to the fullest and to never stop, no matter the obstacles.

What You Should Know About ROHHAD

ROHHAD is a rare disorder which affects the endocrine and autonomic nervous systems. The endocrine system helps to maintain metabolic activity, stress responses, growth, and sexual maturation. Alternately, the autonomic nervous system plays a role in temperature regulation, digestion, respiration, and heart and blood pressure management. When these systems are impeded, multiple health impacts can occur. 

Some physicians and researchers believe this disorder could have a genetic underpinning, but no cause has been discovered. What we know is that ROHHAD usually develops in otherwise healthy children after one and a half years old. The first sign of ROHHAD is usually rapid-onset weight gain of around 20-30 pounds over 3-12 months without an increase in hunger. Later signs of ROHHAD may include:

  • Hypothalamic dysfunction → diminished performance of the hypothalamus that can lead to low cortisol and thyroid hormone levels, abnormally high or low sodium levels, growth hormone insufficiency, high prolactin levels, and early or late puberty
  • Breathing abnormalities such as obstructive sleep apnea, even though the lungs are normal and functioning 
  • Hypoventilation leading to low oxygen saturation and elevated carbon dioxide in the body without shortness of breath
  • Autonomic dysregulation leading to:
    • Strabismus (lazy eye)
    • Decreased pain sensation
    • Low heart rate
    • Chronic constipation or diarrhea
    • Dysregulated temperature with periods of extremely high temperature or very low temperature 
  • Extreme fatigue 
  • Increased risk of neural crest tumors (ganglioneuromas, ganglioneuroblastomas, neuroblastomas) 
  • Seizures
  • Behavioral difficulties
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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