Hair- cartilage syndrome.
That was the childhood diagnosis.
The reason her hair is fine and thin. The reason why there is little hair
growth. The reason her nails, her bones
and her joints are weaker than others.
The reason she will be prone to arthritis. The reason she is short. The reason she can’t
tolerate the heat.
A gene. A mutated
gene.
Period. Genetic. Carry on.
When she was five she
looked like a beautiful toddler.
People mistook her correct gender from birth through to
puberty.
People mistook her correct age from puberty through to
present day.
Physically, she worked hard to keep up in gym, at dance
class and in life.
Mentally she grew stronger and stronger.
Emotionally she had to dig deep to survive.
It turns out, she was misdiagnosed.
Unfortunately, the geneticist she visited prior to becoming
pregnant did not catch the misdiagnosis.
She was given the green light in the world of
procreation. Her odds for any birth
abnormalities were in the same percentage as everyone else. He smiled upon announcing this information.
(Yep, I was there at that appointment)
When her baby was born, the true diagnosis was made.
I was shown a medical book with a picture of a patient with
the same diagnosis.
Creepy enough, a picture of my sister with dark hair smiled
at me. They were identical.
How did the geneticist miss that? She was a text book photo of a genetic
anomaly.
I did not know she had a diagnosis. I did not understand what she would be
diagnosed for.
I never thought there was anything ‘wrong’ with her.
Ever.
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