ROHHAD stands for Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation. It is an extremely rare and complex pediatric disorder that typically affects previously healthy children between the ages of 2 and 9.
Key Features
Rapid-onset obesity beginning in early childhood
Hypothalamic dysfunction, affecting growth hormone levels, body temperature, fluid balance, and sleep regulation
Hypoventilation, primarily during sleep, often requiring assisted ventilation
Autonomic dysregulation, which can impact heart rate, blood pressure, body temperature, and digestion
Behavioral and emotional issues, such as mood swings or autistic-like behaviors
Potential development of tumors, especially neural crest tumors (e.g., ganglioneuromas or ganglioneuroblastomas)
The exact cause of ROHHAD remains unknown, though it is not inherited in most cases. It is often misdiagnosed or diagnosed late due to its overlap with other syndromes such as Prader-Willi.
There is currently no known cure for ROHHAD, and management focuses on addressing the various symptoms through a multi-disciplinary care approach.
Despite our efforts during Rare Disease Awareness Month, we were unable to establish contact with an active organization specifically supporting ROHHAD at this time.
If you or someone you know is affected by ROHHAD and would like to connect, we would be very glad to hear from you. We are committed to doing our best to:
Provide information and visibility
Share relevant resources
Help build connections within the rare disease community
Identify partner organizations that may be able to offer targeted support
Please feel free to reach out to us. Your voice matters, and together, we can help raise awareness and build a stronger support network for those affected by ROHHAD.
SUPPORT GROUPS AND PAGES(This is for signposting purposes only)
ROHHAD SUPPORT GROUP (Facebook)
This private Facebook group is a support group for families with ROHHAD. We will support and fight for Life on this site. Over 170 members.
ROHHAD FIGHT Inc. is a 501c3 nonprofit organization. Our mission is to expand knowledge of the rare syndrome called ROHHAD, advance treatment, discover a cure, enhance the quality of life of the ROHHAD children and ease the financial burden of families who have children suffering from ROHHAD.
ROHHAD Association Belgium has several objectives: – To make the general public and the medical profession aware of the ROHHAD syndrome in order to detect future patients as soon as possible and increase their chances of survival. It is very likely that many children around the world die from ROHHAD syndrome without doctors having been able to make the right diagnosis and therefore to offer the child an appropriate medical follow-up. – To financially support medical research in order to first understand the origin and causes of the syndrome and then to support the development of a treatment.
ROHHAD Nordic, founded and based in Denmark 2024, is a non-profit association. It can be very difficult to be alone with such a rare disease as ROHHAD, and the association therefore was founded to create a community for everyone affected by the diagnosis. Our association is in the process of preparing the first (hopefully of many) annual gathering for ROHHAD patients and their relatives. In addition, the association will focus on seeking financial support for medical research into the disease.
This Facebook group provides information regarding ROHHAD and to help raise awareness for families struck by ROHHAD.
We as parent’s are looking to spread awareness and to help other families struggling to find a diagnosis for there child. Many children are going un-diagnosed and are not getting the correct treatment
For French speakers the Orphanet website is useful for all rare diseases including ROHHAD. Via this link all French speaking people have access to a brief overview of the disease and links for anaesthesia recommendations and the abstract is also translated to Hebrew.
Is a collaborative global network of clinicians, researchers, charities, and families dedicated to advancing understanding, care, and ultimately finding a cure for ROHHAD syndrome It manages the International ROHHAD Registry and leads cutting-edge projects—including epigenetic studies, hypothalamic cellular models, neural crest research, and investigations into neuro-inflammatory mechanisms—to drive progress in diagnosis and treatment rohhad.org+4
I would like to start by telling you Caoimhin’s story.
Caoimhin Adams was an 8 year old, caring, fun and loving young boy. Caoimhin was born at 26 weeks gestation and consequently suffered from mild cerebral palsy as well as epilepsy and chronic lung disease.
In January 2022, Caoimhin started to gain weight at a rapid pace with no obvious reason as his diet and levels of exercise had stayed the same and there was no reason for him to gain such a significant amount of weight in such a short period of time. As Caoimhin was always a healthy weight and active young child, everyone was so confused as to how he could have gained so much weight. Multiple tests were carried out to find a reason for the increase in weight gain however they all found no signs or evidence of any weight related conditions.
In April of that same year, Caoimhin got a 24 hour ambulatory EEG, which showed that his brain waves were much slower than normal and would be expected in patients that are in a coma however Caoimhin was sitting up asking for his tablet and eating his onion rings, so this left the healthcare professionals with only more questions as this was something they had never encountered before.
Between the months of April and June Caoimhins body temperature became extremely erratic whereby he could have a low temperature one minute and the next his temperature could be very high.
In May 2022 genetic blood tests were conducted to determine if Caoimhin had any rare genetic disorders which could be causing this strange array of symptoms.
By the time June 2022 came, Caoimhin required a NasoPharyngeal Airway (NPA) which is a small tube that was inserted into his nose with the hope that it could bypass the obstruction in his airway making it easier for him to breathe as over time he developed Sleep Apnoea. After 3 days the NPA was taken out for Caoimhin to be placed on a C-PAP machine which is a type of mask placed over the nose to help increase the amount of oxygen through pressurised air, on low levels as the NPA was no longer effective.
We noticed Caoimhins heart started to become affected. His heart rate would drop dangerously low in the low 20s then would begin beating up to 150bpm.
Caoimhin was referred to the endocrinology team in July 2022 as he began having what we referred to as unresponsive episodes where he would start profusely sweating, his heart rate would either go really low or really high, his oxygen saturation would drop, his skin colour would change and he would be completely unresponsive and not respond any time we tried to stimulate him. The endocrine team concluded that whilst in these episodes he needed to be given a Hydrocortisone injection to bring him back round out of these episodes. He would be in these episodes for hours on end and then just come out of them. There was one time in particular that I remember, and it was when Caoimhin was on his way up to the PICU after being assessed by the team of doctors, and while wheeling him up the corridor he sat up and started shouting for his crisps. The doctors were in complete disbelief as a few seconds before, he was about to get tubed.
October 2022 was when the RBHSC reached out to GOSH and Birmingham Hospital for a second opinion where they concluded that ROHHAD Syndrome was a very likely cause for all of Caoimhins symptoms. After concluding that he would need a few more tests before confirming the diagnosis of ROHHAD Syndrome, we were given a talk to tell us that Caoimhin was very likely now classed as terminal and to start preparing ourselves for the worst-case scenarios.
In November 2022 Caoimhin was admitted into Paul Ward in the RBHSC due to continuous infections which is where spent his last birthday and Christmas. The CPAP was no longer effective and providing the support Caoimhin needed so he was moved on to BIPAP.
It wasn’t until the end of January 2023 when Caoimhin was discharged from the hospital after spending several weeks there.
Eventually in April 2023, ROHHAD Syndrome was confirmed and the diagnosis was officially given to Caoimhin, after given the diagnosis a DNR was discussed and signed.
In May 2023 he developed even more stomach issues and his bladder ended up not functioning properly which meant he needed to be fully catheterised to go to the toilet. After this he developed multiple different infections however all of them were able to treated with IV antibiotics.
A CT and MRI scan was performed in June 2023 to check for tumours as all of his organs were beginning to slow down way faster than we ever expected. No tumours were found but it was through these scans that it was discovered that Caoimhin had Tortuous Bowel Syndrome and we were told Caoimhin was now Palliative.
The 16th June 2023 was the last day Caoimhin spent in his second home, the RBHSC, before arriving home to spend time with everyone of our friends and family to make our final memories with him and cherish all the time we had left. It was truly an overwhelming experience as we left the RBHSC, as the staff had all lined the corridors clapping him as he went up the hall which he was loving because he released just how special he was and was loving all the attention telling all the nurses he recognised to come on with him.
We decided as a family that we should do one final big thing for Caoimhin before he passed as it was becoming clearer every day that his health was only getting worse and our time with him was getting shorter and shorter, so we had ‘Caoimhins Fun Day’ on the 8th of July 2023. There were bouncy castles, face painters, an ice cream van, members from the Police, Fire Fighters and Ambulance Service all attended and showed all the kids how to do the sirens and they loved it. It truly was the most special and memorable day little did we know this would be Caoimhin’s last day on our earth.
Caoimhin passed away at 06:57 the next morning, peacefully in his sleep surrounded by me, his two brothers Dylan and Aodhan, our mummy and daddy.
It took several months for the official diagnosis to be given to Caoimhin with multiple different teams of doctors and specialists from the RBHSC, GOSH and Birmingham Hospital as Caoimhin was the first person to ever have ROHHAD Syndrome on the island of Ireland, North and South.
You may have noticed that the city hall is lit up orange. That is because the colour used to represent ROHHAD is orange so it is with great privilege that I can say that the city hall has lit up tonight in memory of Caoimhin and will continue to light up every year on 9th July for ROHHAD Syndrome to raise awareness of this condition and hopefully in the future there will be more awareness and knowledge of the condition and ways to help support patients with it.
