CCHS person laying in hospital bed with pipes up nose

CCHS and deadly sleep

What is CCHS?

Congenital Central Hypoventilation Syndrome (CCHS), often known as Ondine’s curse, is an uncommon and intricate neurological condition that impairs the respiratory system’s autonomic regulation. People with CCHS have a decreased need to breathe, especially during non-REM sleep phases, in contrast to the normal respiratory response during sleep, when breathing continues automatically. Breathing too shallowly or insufficiently may cause hypoxemia, or low oxygen levels in the blood, and hypercapnia, or excessive carbon dioxide levels in the blood.

PHOX2B gene mutations are often responsible for CCHS. This gene is essential for the growth and operation of the autonomic nervous system, which includes breathing regulation. Affected people may have a broad range of symptoms, from minor breathing problems to potentially fatal respiratory failure.

When signs like spells of apnea (brief stopping of breathing) or cyanosis (blue skin discoloration) during sleep become noticeable, the condition is often diagnosed in infancy or early childhood. Polysomnography (a sleep study) to analyse breathing patterns during sleep, genetic testing to find PHOX2B gene mutations, and autonomic nervous system function evaluation are examples of diagnostic studies.

A multidisciplinary team of medical experts, including paediatric pulmonologists, sleep specialists, geneticists, and others, is usually involved in the management of CCHS. Long-term ventilation assistance during sleep using mechanical ventilators or diaphragmatic pacing devices may be part of the treatment to guarantee appropriate oxygenation and avoid consequences related to respiratory insufficiency. To maximise the person’s quality of life and manage any developing respiratory or neurological problems, constant observation and routine follow-up care are also necessary.

CCHS person drowning not being able to breathe

Can CCHS be cured and what causes it?

An uncommon hereditary condition known as congenital central hypoventilation syndrome (CCHS) is characterised by a malfunction in the body’s natural respiratory regulation. Mutations in the PHOX2B gene, which is essential for the autonomic nervous system’s development and operation—particularly for controlling breathing patterns—are the cause of it.

Involuntary body processes such as breathing, heart rate, digestion, and temperature regulation are all under the direction of the autonomic nervous system. PHOX2B gene mutations cause abnormal growth and function of certain brainstem neurons, or nerve cells, which control breathing during sleep and rest periods in people with CCHS.

The afflicted people, especially during sleep, exhibit diminished or nonexistent respiratory responses to variations in oxygen and carbon dioxide concentrations due to these genetic abnormalities. This causes shallow or insufficient breathing (hypoventilation), which may lead to blood levels of excessive carbon dioxide (hypercapnia) and low oxygen (hypoxemia).

Since genetic abnormalities are the cause of CCHS, it is typically present from birth and is considered a chronic illness. The fundamental genetic origin of the condition does not change, despite individual differences in intensity and particular symptoms. There is no known cure for this disease. 

Still, further investigation into the genetics and underlying processes of CCHS may increase our knowledge of the condition and help us create novel treatment strategies. The current approaches to managing people with CCHS concentrate on providing supportive care and therapies to correct respiratory insufficiency, maximise oxygenation, and enhance quality of life.

Why is CCHS called Ondine's Curse?

CCHS is also known as “Ondine’s curse,” a word that originated in mediaeval European folklore and refers to a legendary story. The water nymph from German legend who falls in love with Hans, a mortal man, is the source of the name “Ondine.” The story goes that Ondine’s love for Hans was contingent on his loyalty, and that if he betrayed her in the future, he would never remember to breathe when he went to sleep.

Within the framework of CCHS, “Ondine’s curse” refers to the involuntary and sometimes fatal character of the respiratory impairment that afflicted patients endure. Similar to the curse in the story, people with CCHS have a lower desire to breathe during sleep, which puts them at risk for respiratory failure. To avoid problems and maintain appropriate oxygen levels, these people need continuous ventilatory assistance.

Because of the connection to “Ondine’s curse,” people with CCHS have a profoundly impaired ability to regulate their breathing while they sleep, underscoring the vital need for medical intervention and care. It is crucial to remember that “Ondine’s curse” is a slang phrase for CCHS and not a medical or scientific word.

CCHS woman under water

What are the Early Symptoms of CCHS?

Individuals with Congenital Central Hypoventilation Syndrome (CCHS) may have a broad range of first symptoms, some of which may not be evident right away. While some babies may display symptoms as soon as they are born, others may not until later in infancy or childhood. The following are a few typical early signs of CCHS:

  1. Breathing difficulties during sleep: Babies may have short, erratic breathing fits while they sleep. Caretakers may see episodes of shallow, sluggish breathing or pauses in breathing (apnea).

  2. Cyanosis: Inadequate blood oxygen levels may cause periods of blue skin discoloration, especially when you are sleeping.

  3. Eating difficulties: Due to respiratory problems, some newborns with CCHS may have difficulty eating or show poor feeding tolerance.

  4. Slow weight gain: An infant’s inability to feed itself well due to respiratory issues may result in sluggish weight gain or failure to thrive.

  5. Frequent respiratory infections: Because of their impaired respiratory health, children with CCHS may be more vulnerable to respiratory infections.

  6. Excessive sleepiness: Some kids with CCHS may be overly tired or sleepy during the day, which might be the consequence of respiratory issues keeping them up at night.

  7. Difficulty waking up: Lacklustre sleep quality may be the cause of children with CCHS’s trouble getting up in the morning or their unusual grogginess upon rising.

  8. Poor growth: Children with CCHS may show poor overall growth and development in addition to delayed weight gain. This is likely due to respiratory impairment and persistent hypoxia, or low oxygen levels.

It is crucial to remember that each person with CCHS may experience symptoms differently, both in terms of intensity and appearance. Moreover, a delayed or missed diagnosis may occur sometimes since some of these symptoms might be mild or vague. It is crucial to seek medical attention and proper testing, such as a polysomnography (sleep study) and genetic testing, to confirm or rule out CCHS or other respiratory problems if a child’s breathing patterns raise concerns or if any of the aforementioned symptoms happen. For those with CCHS, early identification and intervention are essential to maximising results and enhancing quality of life.

What is the treatment?

In order to manage respiratory insufficiency and optimise oxygenation to enhance quality of life, congenital central hypoventilation syndrome (CCHS) therapy usually entails a multidisciplinary approach. Although there is no treatment for CCHS, there are treatments and therapies that may help people with the illness have happier, healthier lives. The following are some essential elements of CCHS treatment:

CCHS baby sleeping and mother holding its hand
  • Mechanical ventilation: To maintain appropriate oxygen levels and avoid respiratory problems, many people with CCHS need long-term ventilatory assistance, especially when they sleep. Continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) devices are examples of non-invasive mechanical breathing techniques. Tracheostomies and mechanical ventilators are examples of invasive techniques.

  • Oxygen therapy: To increase oxygenation and lessen the symptoms of hypoxemia (low blood oxygen levels), more oxygen may be administered either alone or in combination with mechanical breathing.

  • Diaphragmatic pacing: Diaphragmatic pacing, a surgical treatment that includes implanting electrodes on the diaphragm to promote contraction and enhance respiratory function, may be beneficial for certain people with CCHS.

  • Medication: Doctors may give certain drugs to address problems like gastroesophageal reflux disease (GERD) or respiratory stimulants to improve respiratory drive in order to control the symptoms of CCHS.

  • Regular monitoring: Frequent medical monitoring and follow-up care are necessary for people with CCHS in order to evaluate respiratory function, modify therapy as necessary, and handle any new difficulties or comorbidities.

  • Sleep hygiene: Creating a pleasant sleeping environment, adhering to a regular sleep schedule, and avoiding stimulants just before bed may all contribute to better sleep and general wellbeing.

  • Lifestyle changes: a healthy weight, regular physical exercise, abstaining from tobacco use and other respiratory irritants, and maintaining a healthy weight are all examples of lifestyle changes that may help enhance respiratory health.

  • Psychosocial support: Coping with a chronic illness such as CCHS may have major effects on one’s mental and social well-being. Psychosocial support services may assist people and families in dealing with the difficulties brought on by CCHS and enhance the quality of life in general. These services include counselling, support groups, and instructional materials.

Personalised care for CCHS patients may need continuing modifications over time, depending on their unique requirements and circumstances. In order to create a thorough treatment plan that is specific to their requirements and objectives, patients with CCHS must collaborate closely with a multidisciplinary team of medical experts, including pulmonologists, sleep specialists, respiratory therapists, and other specialists. For people with CCHS, early intervention and proactive care are essential to optimising outcomes and maximising quality of life.

In Conclusion,

Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare genetic condition characterised by decreased respiratory regulation, especially during sleep.

Although there is not a cure for CCHS, there are a number of therapeutic options that may help control respiratory insufficiency and enhance the quality of life for those who are afflicted.

In addition to medicine, frequent monitoring, oxygen therapy, diaphragmatic pacing, mechanical breathing, lifestyle changes, sleep hygiene, and psychological support are some examples of these therapies. To create customised treatment regimens that are suited to the unique requirements and circumstances of each patient, a multidisciplinary approach combining medical experts from different specialisations is required.

Even though having CCHS might present difficulties, people with the illness can live longer, healthier lives with the support of proactive treatment, early intervention, and continued assistance.

Prospective investigations into the fundamental processes of CCHS, together with developments in diagnostic and treatment modalities, are expected to provide better results and elevate the standard of living for those impacted by this intricate illness.

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