2023-04-27 08:22:49
James and Stephanie are regarding to become parents for the second time. The pregnancy and delivery are going well. But, when leaving the maternity ward, the nurses are alerted by a sign. Stéphanie, the mother explained it to our colleagues from Entre Nous: “ the nurses noticed that Casper was a little cold during their routine checks. Suddenly one said, he don’t look good and we saw thathe was not breathing as it should and that it was flaccid. »
No more question of leaving the maternity ward before their baby passes a check-up. Casper must have been intubated because he was not breathing. Doctors diagnose several illnesses: meningitis, neuroblastome. But this does not explain the fact that the infant does not breathe.
Ondine syndrome
In fact, their baby suffers from a rare disease: the syndrome d’Ondine or congenital central hypoventilation syndrome.
This pathology affects one baby in 200,000 births. The disease results in a central dysfunction of the autonomic nervous control responsible for automatic breathing. Result: the body forgets to breathe at night.
The syndrome d’Ondine appears from birth. It is transmitted by autosomal dominant mode. That is to say that if one of the two parents carries the gene, the newborn 50 % risk of suffering from this disease.
No existing treatment
RespiFil, the Rare Respiratory Diseases department at Bicêtre Hospital, AP-HP, explains: “a ventilatory support is vital and required at any age and for life: a mechanical fan is put in place day and night from birth, often by tracheotomy. In older children, it is possible to use non-invasive assistance: a mask to wear during sleep and in situations where vigilance is reduced (fatigue, stress, drowsiness following meals, etc.).
beating parents
If their son is happy despite his illness, his parents are not fatalistic. They refuse to accept that their child suffers from Ondine’s syndrome without doing anything.
This is why James retired from his work and as a couple, they created an association: Keep Me Breathing. As they explain on the association’s website, “the effects of being born with the congenital central hypoventilation syndrome are devastating, with no cure or treatment options available to patients while they sleep beyond artificial survival.”
They are developing a respiratory stimulator. This device, as Stephanie explains, made it possible to “not have to carry heavy fans everywhere or worry that he would doze off in his car seat. He might play with friends, have a normal school life, and sleep through the night safely. »
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