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The congenital condition is forever, but with good control it does not shorten life.
We breathe constantly and we don’t even think about it.
We do it automatically for life after our first breath of air at birth. By innate reflex, the lungs breathe in and out automatically.
In very rare cases, this mechanism does not work properly. The disease is called congenital central alveolar hypoventilation or congenital hypoventilation syndrome. Around 1,500 cases have been reported worldwide. It is considered that
the frequency is
1 in 200,000
births
It affects men and women alike.
Diagnosis is difficult and the associated life support requires specific care. Only a few centers in the world specialize in the rare state. Thanks to advances in genetics, neonatology, and respiratory support technologies, people are living almost normally.
Such a syndrome was discovered in the “Home of the Mother” of a newborn girl and with the efforts of the entire team of neonatologist Prof. Boryana Slancheva, the 3-month-old girl was successfully transported to France with the military Spartan. In an inexperienced team or in underdeveloped medicine, the condition is associated with a high mortality rate from not recognizing the cause of breathing difficulties or inadequate care due to lack of equipment. Researchers believe that some cases of sudden infant death syndrome or sudden unexplained death in children may be caused by an undiagnosed congenital hypoventilation syndrome.
The experienced team of “Mother’s Home” faces the rare challenge. The girl is already in the best Reference Center in Europe for Rare Respiratory Diseases in Children of the Pediatric Hospital of the Robert Debre University in Paris. Dozens of caring people from the Ministries of Health, Defense and Foreign Affairs are assisting with the prominent medical mission. The baby travels in an incubator with special equipment and under the constant care of Dr. Aneta Popivanova and midwife Kamelia Spasova from the Intensive Care Unit of the Neonatology Clinic. In Paris, parents will receive training on how to address the specific needs of the baby and use non-invasive breathing techniques.
After birth, babies with the rare syndrome have
shallow breathing,
shortness of breath, weakness
saturation
of blood
with oxygen.The condition worsens until the complete cessation of spontaneous breathing during sleep. Symptoms usually become apparent shortly after birth, when affected babies become hypoventilated after falling asleep. Lack of oxygen in the blood causes
bluish lips,
pale skin,
lack of vitality.
In some milder cases, the problem may manifest itself later in life.
Early diagnosis and treatment are important to prevent serious complications caused by oxygen deficiency. Respiratory, cardiac, and neurological tests are done to rule out other disorders. A specialized sleep test is also done to determine how severe the shortness of breath is.
The disease is considered genetic and is diffuse damage to the autonomic nervous system. The genetic link was recently discovered after research by French and Spanish doctors in 2003. Although researchers around the world are working to study the condition and seek new techniques and methods to improve the lives of children with the syndrome, the Knowledge in this area is limited or unusable in countries with poor healthcare.
Transmission is believed to be autosomal dominated: one copy of the altered gene in each cell is sufficient to cause the disorder. A heterozygous mutation in the PHOX-2B (PHOX2B) gene is found in 90% of those affected.
The PHOX2B gene
is a key player
in the prenatal
development
of the nervous
system
The disorder is associated with the atypical development of the early embryonic cells that make up the spinal cord and the malfunction of the nerves that control the involuntary functions of the body.
The gold standard for diagnosis is genetic testing to identify mutations in a gene.
Thanks to multidisciplinary and coordinated efforts and the use of mechanical ventilation equipment at night or in critical conditions, most people with the disease can lead normal lives. This implies attention not only at night, but also in various activities such as swimming, as there are cases in which the body “forgets” to breathe underwater.
The condition is permanent, but with proper treatment it does not reduce life expectancy. The disorder is usually congenital. In some cases, it can develop later, especially after severe damage or trauma to the brain or brainstem.
Treatment focuses on providing respiratory support. In severe cases and the possibility of innovative therapies, successful attempts to
placement
implant in
the diaphragm
for electric
stimulus
muscle to control breathing.
The syndrome is known as the Ondin Curse, one of the most famous mythical tales in medicine. The nymph Ondin is an immortal water spirit who turns pink to become a man, captivated by the words of an earthly man in love with her, who swears he will love her as she breathes. Every breath of mine will be my promise of love and loyalty to you! These words turned out to be fateful, says the legend. The lovers marry and Ondin loses her immortality, gives birth to a human child, grows old and loses her mythological beauty. In the German fairy tale, Ondin catches his lover in adultery and cruelly suffers, so his beloved father and ruler of the immortal nymph kingdom curses him to stay awake forever if he wants to be able to breathe.
Autonomous breathing depends on the feedback mechanism of carbon dioxide and oxygen levels, as well as the pH of the blood and cerebrospinal fluid. In congenital hypoventilation syndrome, the mechanism is blocked.
The eponymous Curse of Ondin was ingeniously introduced to medicine in 1962 by Robert Mitchell and John Severinghouse of the University of California, San Francisco. The problem is most noticeable during the call. slow sleep: one of the phases of sleep, and rarely in a waking state.
Other names for the rare condition are congenital central hypoventilation, congenital insufficiency of autonomous control, Haddad syndrome, Ondin-Hirschsprung disease.
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