The misdiagnosis.

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.