本文来自EURORDIS-Rare Diseases Europe的会员组织分享。ROHHAD（快速发作型肥胖伴下丘脑功能障碍、低通气和自主神经功能障碍）是一种严重的罕见疾病，通常在健康的儿童中突然发作。它始于不明原因的快速体重增加，随后出现呼吸衰竭和体温调节失常。
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October 2026| The below member comment article was shared with EURORDIS-Rare Diseases Europe by our member organisation, the ROHHAD Nordic |Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a serious rare illness that usually strikes previously healthy children.
It begins with rapid and unexplained weight gain, then failing breathing, unregulated body temperature, and misfiring hormones.
ROHHAD has no specific diagnostic test. Diagnosis rests entirely on clinical recognition, on recognizing the pattern before it is too late. And that is where the problem lies: you cannot diagnose what you have never heard of.
The Gap Between Knowledge and ConsequenceFor the families affected, the path to a ROHHAD diagnosis is exhausting. Children are seen by innumerable specialists over the years. Symptoms are treated in isolation so the bigger picture is missed.
Unfortunately, the cost of that delay is immeasurable. ROHHAD carries a high risk of cardiorespiratory arrest and tumors. Early recognition is lifesaving.
This is the reality that motivated ROHHAD Nordic. In our very first meeting, Julie Væver, chairperson at ROHHAD Nordic, brought up the great idea to create a brochure that helps clinicians recognize ROHHAD.
One Brochure, Many Voices and Many LanguagesIt began as an idea from a single organization, but quickly became something bigger.We contacted ROHHAD organizations around the world.ROHHAD Japan responded, offering collaboration.
ROHHAD Russia shared the painful reality that “the diagnosis is very complicated;few doctors know it—most hear of it for the first time.” ROHHAD Mexico, the ROHHAD Association and the International ROHHAD Consortium all joined.EURORDIS offered visibility.
The result was a truly international initiative that, even as an internationalist by training, I could have only dreamed of.A project built on the shared recognition that ROHHAD does not respect borders, so neither should awareness.
The international aspect has deeply shaped the brochure, now available in English, French, Spanish, and German.Language should never be the barrier between a child and a diagnosis.
What the Brochure ContainsIt starts with essential information: what ROHHAD is. It breaks down the acronym so each component (Rapid-onset Obesity, Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation, Neural Crest Tumours) is explained clearly.
It includes a section on what to do if ROHHAD is suspected. Because a clinician who does recognize the pattern needs to know what happens next.
But perhaps most importantly, the brochure includes real experiences from real people, the very reason why the brochure exists:
A physician in Denmark who treats a ROHHAD patient: “I’ve stopped trying to figure ROHHAD out—I can’t. I just keep up and treat the symptoms as best I can.”
A mother in Finland who fought long battles with healthcare and social services.
A mother in Spain who describes ROHHAD as “a daily battle” where “timely medical care can make all the difference.”
Creating this brochure taught us that in the rare disease community, the will to collaborate is very often there. What is missing is structure: a clear goal and initiative for organizations to collaborate around.
Julia Ioott, Volunteer, ROHHAD Nordic
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