Back to the Beginning

We got the complete autopsy results yesterday and it showed nothing more than the fact that Rachel died due to complications of her condition. Neither us or Dr. Koppell had heard from UCLA yet so he called them since it had been 8 weeks. Apparently their results were in the mail so he had them fax a copy to him. He called in the afternoon with their report. UCLA’s Cedar Sinai has a preliminary diagnosis of Uniparental Disomy 14 (UPD 14). They want tissue samples sent to them to confirm the diagnosis. I thought tissues had already been sent when she passed, but apparently it was just her x-rays. Ironically, it seems that UPD 14 has pretty much the same presentation at Jeune’s Syndrome, small rib cage, widened iliac bone and short limbs.   The only thing I haven’t been able to see about UPD 14 is Kidney problems, which Rachel had at birth. She also didn’t show a short stature which UPD 14 can show, she just had short limbs.  She also didn’t have any cranial abnormalities in her bones nor did she have any hernias which is consistent with UPD 14.  I know in the end it doesn’t matter what she had because it doesn’t change the fact that she is not here anymore, but I am bothered by this possible diagnosis, I guess it just puts me back at square one with everything.

2 thoughts on “Back to the Beginning

  1. I have nothing to say but I am praying for you. I have no idea what it feels like to be in your shoes, but I do know God is watching out for you. ❤ Miss you.

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