How does ROHHAD syndrome impact children and families?

ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and life-threatening condition affecting children. It can develop very suddenly and leads to rapid and extreme weight gain.

Those who have the condition can also be affected by central nocturnal hypoventilation (a sleep-related breathing disorder) and problems with their hormones and temperature control. In some cases, ROHHAD syndrome is also linked to the development of certain types of cancer.

It is a condition that is difficult to diagnose, as well as being progressive and associated with a risk of sudden death.

We don’t understand why ROHHAD syndrome develops and we do not currently have a definitive treatment for it. This means that young people and families living with someone affected by ROHHAD syndrome face a constantly changing and uncertain future.

Project aims

There is currently no research exploring the lived experiences of children with ROHHAD syndrome and their families.

During this study we will look at the experiences of 10-12 families to understand:

• How they got a diagnosis and how they reacted to it
• Their fears and concerns about the diagnosis
• How ROHHAD syndrome affects a child’s schooling and daily life
• How ROHHAD syndrome affects family dynamics, work and quality of life
• Patient and family centred wishes for future research and treatment avenues
• Family wishes for information and health care resources for future patients

What we hope to achieve

We hope this research will allow us to establish what services, treatments, and medical and social support is needed by those living with ROHHAD syndrome.

Our aim is to produce guidance which could be adopted by the British Society for Paediatric Endocrinology and Diabetes.