It has been almost a year now since we received my son Ethan’s diagnosis, and as I sit here typing, and reliving the day, the tears are streaming down my face because it is still such a raw and difficult memory for me.
We planned to have the appointment in the morning so he could attend before he had to leave to go back to work. The appointment started like any other doctor’s appointment, with measurements and a physical exam.
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I remember the doctor and the medical student discussing Ethan out loud during the exam… like he was an object or a hypothetical study, rather than a person.
“Almost no muscle tone. Wide-set eyes. Internally rotated feet. Possible congenital vertical talus. Severe plagiocephaly.”
Each statement was like a punch to my stomach slowly taking away more and more of my breath. Every word that was spoken served to intensify my panic.
What was happening to my baby?
But the way they were treating him – mechanically manipulating him and verbally picking him apart like vultures, it enraged me.
After the physical exam, when we sat down with the doctors they said, “I’m very sorry to tell you this, but your son has a rare genetic condition called chromosome 18q deletion syndrome.”