Monday, January 23, 2012

What She Has, Part II

And so...I studied the pictures of the kiddos with the syndrome I'd found on the internet, begging the Lord that this was not "it"and quietly knowing it was.

We went to the pediatrician the next morning and dealt with the constant health housekeeping of those days--adjustments of medicines and oxygen, coordinating services and physicians--and I was a nervous wreck the whole time, trying to get up the nerve to ask:

"So, about that genetic test you had run...have you heard?"


Our doctor said he was sure it was fine, but would call Children's and see if the results were in yet.

He came back in the room, nearly weeping, and said:

"Mr and Mrs Burch, I'm so so sorry.  Lilah has 1P36 deletion syndrome."


Paul, at that point was clueless about the implications of that diagnosis and I was, between sobs, sputtering an obscene amount of knowledge about this condition....rambling on about all the symptoms I had read about the night before.

Heart disease, heart deformities, seizures, hypotonia, loss of vision, scoliosis, loss of hearing, lung disease, significant gross motor impairments, fine motor impairments, inability to communicate, and...severe cognitive impairments.

By God's grace we were able to reassure our sweet friend and doctor that we weren't going to drive off the Henley Street Bridge.

Part III later....

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