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Name: Samantha Winney
  • DOB: 10/3/2002
  • Did Mother Have HELLP: Possible Mild Case
  • Gestational Age: 40 weeks
  • Reason for Premature Delivery: N/A
  • Date of Diagnosis: 3/1/2003
  • Medical Presentation When Diagnosed: Seizing and comatose.  Blood Sugar was 9
  • Current Doctor(s): Dr. Cary Harding OHSU, Dr. Ahart
  • Results of Molecular Analysis: The first, G1528C, in exon 15 is the common LCHAD mutation that alters glutamic acid 474 to glutamine.  The second, T1678C, in exon 16 alters the arginine codon at position 524 to a stop codon.
  • Siblings: Sister Rebecca Winney, carrier
  • Location: Kennewick, WA  

    • The following is an article written by Samantha's mother.  This is a Microsoft Word file so please send us an e-mail if you are unable to open it, we will send you a plain text version.

    Our Story of LCHAD and the Importance of Expanded Newborn Screening

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