Congenital Central Hypoventilation Syndrome CCHS - Ondine's Curse
Congenital Central Hypoventilation Syndrome, more commonly referred to as Ondine's curse or Hirschsprung disease, causes people to take shallow breaths (hypoventilate) while sleeping resulting in inadequate oxygen in their blood supply and excess carbon dioxide build-up in their system. This results in low levels of oxygen being available for bodily processes.
CCHS is caused by a mutation in the PHOX2B gene and often runs in families.
Symptoms
Autonomic nervous system disorders occur when part of the autonomic nervous system that regulates involuntary bodily processes fails to trigger breathing at night, leading to oxygen deprivation and carbon dioxide buildup in blood. People suffering from chronic chronic hypercapnic syndromes (CCHSs) typically rely on mechanical ventilation (a ventilator), as well as devices which stimulate normal breathing patterns (diaphragm pacemakers); some may need these supports throughout the day while others require support only at night.
Symptoms may include difficulty breathing, episodes of breath-holding and rapid changes to heart rate and blood pressure. People living with CCHS are at increased risk for seizures as well as neuroblastomas and ganglioneuroblastomas; both tumors that target nerves.
Mutationss in the PHOX2B gene cause Congenital Central Hypoventive Syndrome. This gene produces a protein which aids the formation of neurons during fetal development; those affected with this syndrome have defects in their neural circuits that control breathing, making life very difficult indeed.
Genetic testing and counseling services are available for those at increased risk for Chronic Cholestasis High Saturation Syndrome due to family history or symptoms associated with it, or both.
Counseling provides opportunities to discuss health status with family, consider prenatal testing/diagnosis/planning future pregnancies accordingly and potentially avoid hospital admission or emergency intervention due to lack of oxygen in their blood supply during periods when there may not be enough. Having such knowledge could prevent hospital admission and emergency intervention due to periods when there's too little oxygen in their blood supply resulting in low or no oxygen in their blood supply during periods when blood oxygen content/oxygen levels become deficient enough.
Diagnosis
Congenital Central Hypoventilation Syndrome is a rare genetic disorder characterized by failure to prompt breathing (like that experienced during a heart attack). A mutation in the PHOX2B gene appears to be responsible, leading to symptoms including difficulty with breathing and difficulty controlling their blood pressure or heart rate. People affected may also exhibit breathing difficulties as well as hand or foot cyanosis as well as difficulty controlling their blood pressure or heart rate. Most commonly found shortly after birth; it can also appear during gestation or later on; complications including Hirschsprung disease or tumors as well as difficulty swallowing.
Diagnoses for autonomic nervous system disorders or pediatricians typically depend on symptoms and history to establish diagnosis of CCHS; confirmation can be achieved with PHOX2B gene analysis to detect mutations that cause it.
Early diagnosis and careful ventilation management can reduce complications for people living with CCHS. Family members are strongly encouraged to ask their physician about genetic counseling for affected individuals as the mutations they carry have a 50% chance of passing down through sibling lines; screening tools to identify at-risk family members may be effective but further research must be completed on their effectiveness.
Treatment
CCHS is caused by a genetic mutation in PHOX2B that hinders production of protein that controls nerve cells that control breathing. Individuals born with it will remain affected throughout their lives; symptoms include problems in their eyes, lungs and gastrointestinal tract.
Symptoms of CCHS include reduced or shallow breathing (hypoventilation), particularly while sleeping. People suffering from the disease may also have low levels of oxygen in their blood (hypoxemia), leading to confusion, blue skin tone and purpling lips; ultimately this condition can prove fatal without treatment.
Treatment options may include using a ventilator to assist the patient's breathing. This could be necessary at any time of day or only when sleeping; to monitor oxygen levels and heart rate while using this treatment option.
Other treatments may include medications to manage acid reflux or poor upper gastrointestinal motility, both of which can contribute to difficulty swallowing. Some patients may need a tracheostomy tube installed so as to make breathing easier.
Families of people living with CCHS should also receive extensive training in CPR, airway management and equipment handling. Although their loved one may rely on technology for daily activities, living at home with good care should enable as normal of an experience as possible.
Prevention
CCHS may be congenital at birth or acquired later in life; either way it results in you breathing too shallowly or slowly when sleeping, which prevents enough oxygen being taken in and can result in serious health complications. Its cause is believed to lie with abnormalities in early embryonic cells that form the spinal cord.
Caused by genetic mutation in the PHOX2B gene, which disrupts nerve cell development and function - particularly those governing autonomic nervous systems such as breathing. When these nerves don't function normally they do not send proper messages to prompt normal breathing patterns in your body.
Prevention of chronic obstructive pulmonary syndrome (CCHS) can be achieved in several ways. Vaccinations, good diet, and regular physical activity are all effective. Furthermore, those living with CCHS should be closely followed by an expert familiar with treating it, equipment service support services available locally as well as contracts with an CCHS Family Center that oversees home ventilation systems.
This condition gets its name from a mythological tale about an angry water nymph who cursed her unfaithful husband to stop breathing while sleeping, an extreme form of central sleep apnea that can prove fatal if left untreated. Symptoms include low oxygen levels in the blood (giving skin a blue hue known as "cyanosis") seizures, and heart conditions.
