What is CCHS For Patients and Parents

CCHS for Patients and Parents

WHat is CCHS? The Basics.

Congenital Central Hypoventilation Syndrome (CCHS) is an extremely rare genetic condition which causes sufferers to lose their automatic control of the most basic living function. Breathing. This is always the case when asleep but for some sufferers when awake too. It is caused by mutations in the PHOX2B gene and currently requires lifelong artificial ventilation as life support. There is no cure and no therapeutic treatment beyond artificial life support via ventilation through a mask or tracheostomy. That is why we are building The Breathing Pacemaker.

CCHS affects the autonomic nervous system and can additionally come with a range of additional consequences. It is important to be aware of these too so they can be treated as quickly as possible. Ventilatory support is life support for patients with CCHS.

What is CCHS Question and Answer Videos

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About CCHS - Not just a respiratory disease

CCHS is a rare genetic condition affecting 5000+ people worldwide. This is a sizeable under-estimate as some cases of sudden unexplained death may in fact have been caused by CCHS. The estimated incidence rate of CCHS is approximately 1 in 120,000 live births, meaning since 1970, over 40,000 babies with CCHS have been born. Genetic sequencing to identify a confirmed case of CCHS was only available post 2002.

CCHS is caused by a genetic mutation affecting a particular gene named PHOX2B. This gene is responsible for the development of nerves early in pregnancy to form specific types of nerve cells, especially in the autonomic nervous system. As the nerve cells do not work as they should, messages between the body and brain are not passed on correctly.
CCHS can come with additional consequences. Approximately 20 per cent of children with CCHS will also have a condition named Hirschsprung’s Disease. For 50% of NPARM CCHS Patients, Neural Crest Tumours will be present or develop. Many CCHS children have gut issues, eyesight problems, non adequate blood sugar regulation and some require a cardiac pacemaker because their heart can stop beating. An essential screening checklist is available below.
In the majority of people, this only happens while asleep, but for people with severe CCHS, it occurs all day every day and may be particularly evident when feeding (particularly in infancy) or when concentrating.

Ventilatory support is life support for patients with CCHS.

Below is a table of guidelines to screen for depending on the specific CCHS genotype.

Adapted from Weese-Mayer et al [2010] and Weese-Mayer et al [2017] For the full article please click here

CCHS is a dominant genetic condition, meaning only one PHOX2B gene needs to contain a mutation to result in the phenotypic presentation of CCHS.
Although most genetic diseases are inherited from parents, the majority of CCHS cases are spontaneous in nature. The rate of inheritance of CCHS from a parent who has CCHS is believed to be 50%.
Mosaic parents (who may have some ‘normal’ Phox2b gene cells and some abnormal but are typically asymptomatic or have a much milder version of CCHS) have been identified within the CCHS population, but these are still rare. Parents who wish to have additional children after having a child with CCHS are encouraged to seek genetic counselling.
PHOX2B mutations are stable in transmission from one generation to the next, but penetrance and phenotype can still vary significantly. Along with early recognition of the clinical features of CCHS, the gold standard test to diagnose CCHS is genetic testing to identify mutations in the PHOX2B gene, including PARMs, NPARMs, or deletions and duplications.

CCHS – Types of Ventilatory Support

The vast majority of CCHS patients will be supported via a Tracheostomy and is often the first choice of trusts. However it is important to be aware that other types of ventilation such as mask ventilation can be successful, even in early infancy. (For evidence of this, please see here and GOSH guidelines here). Please also see our more detailed comparison of ventilation types in the chart below but also on this page:
This will depend on a range of factors including severity of you or your child’s specific phenotype. It is important to consider the advantages and disadvantages of each type of ventilation support including secondary factors. For example a Tracheostomy can result in issues with speech and smell while mask ventilation can increase the risk of midfacial hypoplasia. Phrenic Nerve Pacing is currently not offered in some countries or health systems, for example it is not yet available on the NHS.
Different hospitals have different protocols with CCHS patients. Some will be much more pro certain ventilatory options than others.

What We Know.

Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition affecting 5000+ children

worldwide. However, these figures may be an underestimate due to a lack of understanding around the condition. For example in some cases CCHS can cause a sudden infant death syndrome (SIDS).

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We Are Working Relentlessly To Make Breakthroughs In CCHS Research, Get Treatments Faster And Find A Cure For CCHS.

Active Research Projects
Global Collaborations
Drug Development Research
Drug Repurposing Research
Development of a truly implantable biofeedback diaphragm pacer system to remove the need for mechanical ventilation
Development of new technology capable of automatic adjustments to breathing rates and tidal volume while asleep

Ride for Rare BBC Radio Sussex Interview with Keep Me Breathing Founder James Oakley

From charity to MedTech innovator: Keep Me Breathing launches 1,000-mile ‘Ride for Rare’ validation challenge for wearable CO2 monitor

KMB News.

Our blog combines the latest news from various sources on the fight against CCHS.

Our single mission is to drive forward, discover and utilise treatments and cures for CCHS sufferers.