Welcome to the Ondines Support Group website
Hello my name is Martina Yates
My personal experience with CCHS
I was born with CCHS but it was not undiscovered until I was 15, as a baby my mother had tried to get my doctors to realize that I had a breathing problem as I used to stop breathing while sleeping, so much so at night it got to the point she used to have lie next to me in bed and moved me everytime I stopped breathing. My health during childhood was erratic being susceptible to colds and infections plus was slow to heal if i got a cut or bruise. It was shortly after moving house at fifteen that I had a heart attack.
I was rushed to Aintree hospital in Liverpool being the best children’s hospital there is near my home, I was put on a life support machine and was not expected to survive,it was only due to the sheer luck of a visiting breathing Specialist Dr Peter Calverley who was visiting the hospital who had his son under the care of my heart specialist (Doctor Arnold) he asked the visiting doctor to look at my case, it was because of Dr Calverley that my unknown condition was diagnosed.It was therefore only left to tell my mother and family of my diagnosis and I was given a facial masked ventilator. I can’t say my life has been easy since being told I have CCHS I have been told I have a blood clotting problem and hypertension and i can’t have children for my own safety a 50\50 chance of either dying myself or death of the child I have had two strokes which have affected my memory but other than that I am more than lucky now I have a loving family,plus I am married to a wonderful man who is alway there for me plus two stepsons and a small bunch of friends who are very supportive so I can truly say I am blessed.
MY Personal GOALS
There is still much to be learnt about the CCHS and its associative disorders. my goal is to change this and bring it to the attention to existing breathing specialists, doctors, GPs but primarily it is for anyone who are unsure where to turn for information and support concerning the condition to share with you links to groups and organizations that will help you build a clearer picture of the disability also uniting you with others with the same condition who will share their stories and experiences ultimately giving you advice, friendship, support and hope for the future .
Ondine”s or CCHS is a breathing disorder which causes the person to stop breathing while sleeping or breathing on their own during the day depending on the severity of the apnea Ondine’s Curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hyperventilation, it is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine’s curse classically suffer from respiratory arrest during sleep. Persons who have CCHS get it at birth, or develop it due to severe neurological trauma/damage to the brain stem. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. This very rare and serious form of central sleep apnea involves an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
Ondines or CCHS in depth
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control. Patients with CCHS have difficulty breathing because the part of their brain that controls respiratory function is impaired, which results in the brain not telling the body how fast or how deep to breathe. Once a patient is diagnosed with CCHS, lifelong care is typically necessary. The level of care is based upon the severity of the case, with severe cases often requiring around-the-clock respiratory intervention. Patients with less severe cases may only need assistance while they sleep, due to the apnea that occurs because of the impaired respiratory function.
Living with CCHS
Congenital Central Hypoventilation Syndrome (CCHS) is a life-long disease. There is no known cure and treatment depends on its severity. Living with CCHS means living with respiratory support. All CCHS patients need ventilator support when they sleep. An estimated one third of patients currently require around–the-clock support.
Mechanical Ventilator Support and Its Drawbacks
A home mechanical ventilation may truly be a life-saving system for CCHS patients. It allows the patient to leave the hospital, grow up at home, and participate in activities such as school. But it has its disadvantages. There is an increased risk of infection and pneumonia with the ventilator’s tracheotomy tubes. Equipment for mechanical ventilation is typically large, cumbersome, and complicated. Packing up for a few nights away from home can be difficult. Similarly, it has a short battery life so one must always be close to an electrical outlet. A mechanical ventilator may restrict a patient’s smell and taste because air goes directly into the airway, rather than getting pulled through the mouth and nose.
A More Normal Lifestyle
Fortunately, for eligible CCHS patients, a respiratory support technique called diaphragm pacing via phrenic nerve stimulation may offer an improved quality of life.
- Most patients who utilize diaphragm pacing are able to participate in many “normal” activities.
- Some patients elect to remove the tracheostomy altogether.
The pacing system is small and compact. It can be carried as a backpack or a fanny-pack, allowing the patient to move around more freely. It is also quieter than a mechanical ventilator. Patients who have had a Diaphragm Pacing System successfully implanted report having a more normal lifestyle than they did when they were tethered to a mechanical ventilator.
Treatment of CCHS of Diaphragm Pacing
Today, patients with CCHS may receive respiratory support with a technique called diaphragm pacing. Diaphragm pacing uses the patient’s own diaphragm as a ventilator. The pacing system requires the surgical implantation of an electrode behind the phrenic nerves. An external device uses electrical energy to stimulate the phrenic nerves causing the diaphragm to contract which then draws air into the body. Diaphragm pacing is an alternative to positive-pressure ventilators in which the patient needs permanent tracheotomy tubing. Unlike a ventilator machine, a diaphragm pacemaker can be carried in a small backpack or fanny pack allowing the CCHS patient to participate in everyday activities.
The Avery Breathing Pacemaker System
The Avery Breathing Pacemaker System is the only diaphragm-pacing device with full pre-market approval from the FDA. In addition, its system of using small implanted radiofrequency receivers rather than electrode wires that pass directly through the skin may decrease a patient’s risk of infection and ongoing wound care management issues.
The Avery Breathing Pacemakers are the only device with full PMA FDA approval and are CE marked under the European Active Implantable Medical Device Directive. Also it is the only device approved for both pediatric and adult patients. The youngest patient ever implanted was 56 days and the oldest was 84 years. In addition, using fully implantable receivers, the Avery System does not have wires protruding through the skin which may result in chronic infection and ongoing wound care. Moreover, the Avery system is not contraindicated for patients with cardiac pacemakers. Learn more about the Avery Breathing Pacemaker System.
The thoracic diaphragm, or simply the diaphragm, is a large flat muscle positioned within and across the bottom of the rib cage. Shaped like an open parachute, it separates the lungs from the stomach area. The diaphragm performs an important function in respiration. When it contracts, air is drawn into the lungs. Then, the muscle relaxes and air is expelled.
Diaphragm paralysis is the loss of control of one or both sides of the diaphragm. This causes a reduction in lung capacity. Patients with diaphragm paralysis may experience shortness of breath, headaches, blue lips and fingers, fatigue, insomnia, and overall breathing difficulty.
Causes of diaphragm paralysis include, but are not limited to:
- Direct trauma to the phrenic nerve (the nerve that controls the function of the diaphragm), either from surgery, radiation, or tumor
- Central neurological disorders such as a brain or brainstem stroke
- ALS (commonly known as Lou Gehrig’s Disease), multiple sclerosis, muscular dystrophy, or other neuromuscular diseases
- Spinal cord disorders and quadriplegia
Patients with a paralyzed diaphragm who have functioning phrenic nerves can seek treatment with the Avery Breathing Pacemaker System.
The breathing pacemaker uses surgically-implanted electrical impulses to rhythmically stimulate the phrenic nerve which helps restore breathing function. The surgery is performed by placing an electrode around the phrenic nerve, either in the neck or in the chest.
Phrenic nerve stimulation, also known as diaphragm pacing, is the electrical stimulation of the phrenic nerve using a surgically implanted device. This device contracts the diaphragm rhythmically, improving breathing function in patients with respiratory insufficiency.
How Does It Work?
The external transmitter and antennas of the phrenic nerve stimulator send radio frequency energy to the implanted receivers just under the skin. The receivers then convert the radio waves into stimulating pulses. These pulses are then sent down the electrodes to the phrenic nerves, causing the diaphragm to contract. This contraction causes the patient to inhale. When the pulses stop, the diaphragm relaxes and the patient exhales. Repetition of this series of pulses produces a normal breathing pattern.
Who Is Eligible?
Patients with partial or complete respiratory insufficiency who have an intact phrenic nerve and diaphragm may be eligible for phrenic nerve stimulation. Common diagnoses include patients with spinal cord injury, central sleep apnea, ALS, and diaphragm paralysis.
How Is It Implanted?
A phrenic nerve stimulator is implanted surgically by placing an electrode behind the phrenic nerve, either in the neck or in the chest. This electrode is connected to a radiofrequency receiver which is implanted just under the skin. The surgery can be performed at a hospital close to the patient’s home by the surgeon of their choice. The procedure averages two to four hours, and the patient is typically discharged from the hospital after one or two days. Some procedures can be performed on an outpatient basis. Find out more about the surgical details.Avery Biomedical Devices, Inc. is the leading provider of phrenic nerve stimulators in the United States. Learn more about the Avery Breathing Pacemaker System.
National Healthy Sleep Awareness Project
DARIEN, IL – A neuroimaging study is the first to show that white matter damage caused by severe obstructive sleep apnea can be reversed by continuous positive airway pressure therapy. The results underscore the importance of the “Stop the Snore” campaign of the National Healthy Sleep Awareness Project, a collaboration between the Centers for Disease Control and Prevention, American Academy of Sleep Medicine, Sleep Research Society and other partners.
Results show that participants with severe, untreated sleep apnea had a significant reduction in white matter fiber integrity in multiple brain areas. This brain damage was accompanied by impairments to cognition, mood and daytime alertness. Although three months of CPAP therapy produced only limited improvements to damaged brain structures, 12 months of CPAP therapy led to an almost complete reversal of white matter abnormalities. Treatment also produced significant improvements in nearly all cognitive tests, mood, alertness and quality of life.
“Structural neural injury of the brain of obstructive sleep apnea patients is reversible with effective treatment,” said principal investigator and lead author Vincenza Castronovo, PhD, clinical psychologist at the Sleep Disorders Center at San Raffaele Hospital and Vita-Salute San Raffaele University in Milano, Italy. “Treatment with CPAP, if patients are adherent to therapy, is effective for normalizing the brain structure.”
The study results are published in the September issue of the journal Sleep.
“Obstructive sleep apnea is a destructive disease that can ruin your health and increase your risk of death,” said American Academy of Sleep Medicine President Dr. Timothy Morgenthaler, a national spokesperson for the Healthy Sleep Project. “Treatment of sleep apnea can be life-changing and potentially life-saving.”
The “Stop the Snore” campaign was launched recently to encourage people to talk to a doctor about the warning signs for sleep apnea, which afflicts at least 25 million adults in the U.S. Sleep apnea warning signs include snoring and choking, gasping or silent breathing pauses during sleep. Pledge to stop the snore at www.stopsnoringpledge.org.
The study involved 17 men with severe, untreated obstructive sleep apnea who had an average age of 43 years. They were evaluated at baseline and after both three months and 12 months of treatment with CPAP therapy. At each time point they underwent a neuropsychological evaluation and a diffusion tensor imaging examination. DTI is a form of magnetic resonance imaging that measures the flow of water through brain tissue. Participants were compared with 15 age-matched, healthy controls who were evaluated only at baseline.
A previous study by Castronovo’s research team found similar damage to gray matter volume in multiple brain regions of people with severe sleep apnea. Improvements in gray matter volume appeared after three months of CPAP therapy. According to the authors, the two studies suggest that the white matter of the brain takes longer to respond to treatment than the gray matter.
“We are seeing a consistent message that the brain can improve with treatment,” said co-principal investigator Mark Aloia, PhD, Associate Professor of Medicine at National Jewish Health in Denver, Colorado, and Senior Director of Global Clinical Research for Philips Respironics, Inc. “We know that PAP therapy keeps people breathing at night; but demonstrating effects on secondary outcomes is critical, and brain function and structure are strong secondary outcomes.”
The study was supported by the Respironics Foundation and performed in collaboration with the Center of Excellence in High-Field Magnetic Resonance Imaging at Vita-Salute San Raffaele University.
To request a copy of the study, “White Matter Integrity in Obstructive Sleep Apnea before and after Treatment,” or to arrange an interview with the study author or an AASM spokesperson, please contact Communications Coordinator Lynn Celmer at 630-737-9700, ext. 9364, firstname.lastname@example.org.
The monthly, peer-reviewed, scientific journal Sleep is published online by the Associated Professional Sleep Societies LLC, a joint venture of the American Academy of Sleep Medicine and the Sleep Research Society. The AASM is a professional membership society that improves sleep health and promotes high quality patient centered care through advocacy, education, strategic research, and practice standards.
About the National Healthy Sleep Awareness Project
The Healthy Sleep Project addresses the sleep health focus area of Healthy People 2020, which provides science-based, 10-year national objectives for improving the health of all Americans. The sleep health objectives are to increase the medical evaluation of people with symptoms of obstructive sleep apnea, reduce vehicular crashes due to drowsy driving and ensure more Americans get sufficient sleep. For more information, visit www.projecthealthysleep.org.