A fax arrives from Paris.
It is short and merciless.
The tests confirm Congenital Central Hypoventilation Syndrome (CCHS).
A mutation has occurred in Leo’s PHOX2B gene
20/26.
The curse has been cast.
In practice this means
that Leo will never be able to breathe on his own while asleep
and maybe even while awake – time will tell.
That’s not all.
He will undergo a tracheostomy,
which will allow the boy to be connected to a ventilator—a machine,
on which Leo will depend for the rest of his life.
That’s not all.
The disease is linked to various complications.
It’s often accompanied by epilepsy, autonomic nervous system dysfunction,
dysphagia, esophageal motility disorders, abnormal gastric motility, heart beat abnormalities leading to vasovagal syncope, asystole (a state of no cardiac electric activity), incorrect reactions of pupils to light, incidents of excessive sweating, decreased body temperature, impaired thermoregulation, problems with sight and hearing, hyperinsulinism, facial deformities (…)
and neuroblastoma, a very aggressive abdominal cancer.
That’s not all.
The ventilator will continuously and irreversibly harm Leo’s lungs,
shortening their life.
That’s not all.
Not everyone with a tracheotomy is able to speak
The procedure can destroy the vocal chords.
Leo may be mute.
That’s not all.
There are only 200 or so people living with this disease globally.
No one pays attention to orphan diseases.
Medical progress will not help Ondine’s Curse.
That’s not all.
The disease is linked to lower thresholds of pain and fear,
which lead to a heightened risks associated with impulsive behavior.
That’s not all.
Leo can never be without professional care,
he will never be able to go to camp, he won’t be able to snorkle,
travel, sleep under the open sky, go kayaking.
He won’t be able to fall asleep during a boring class
(assuming he even goes to school),
or in a traffic jam on the bus,
or during a movie that’s just a little to long.
Because he will die.
