At six months, Alexander rarely smiled or moved on his own. With little known about his syndrome, his parents charted their own course.
FOR THE FIRST SIX MONTHS of Alexander’s life, I wanted to believe he might get well on his own. I would often lie down on the floor and make faces at him, trying to tease out a smile. Sometimes, after lots of effort, it worked. But mostly, my son was motionless and silent, his eyes focused on nothing in particular.
It was fall 2009 and my wife, Ashley, and I had only just moved into a new home in downtown Calgary, Canada. We had a vivacious four-year-old daughter named Sloane, a grouchy Siamese cat and an infant son who was a mystery. Alexander had been born hypotonic—floppy, basically— with an abdominal hernia, a heart murmur, strange folds on his ears and a V-shaped birthmark in the centre of his forehead. The geneticist assigned to us in intensive care, Micheil Innes, knew these were markers of a genetic disorder, but he couldn’t place it.
Even after Alexander was healthy enough to come home, he remained undersized and underweight, hardly able to hold up his head. Amid the blurry rush of feeding and diapers and getting Sloane off to school, I could pretend he was just a little quiet and weak for his age. But the truth is, we often wondered if there was any awareness inside him at all.
The first tentative answer arrived on a dark afternoon in December. We were called to a small room at the Alberta Children’s Hospital where Innes explained that a piece of our son’s genetic coding simply wasn’t there. He showed us the lab results: rows of striped squiggles like some ancient alphabet and a red dot indicating the location of the missing material—near the end of the ‘q’ branch of the ninth pair of chromosomes. The precise spot, in technical terms, was 9q34.3.
Diese Geschichte stammt aus der January 2017-Ausgabe von Reader's Digest India.
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