In the previously mentioned textbook by Jerry J Zimmerman, MD, PhD, he wrote, “Diagnostic metabolic laboratory studies are most likely to provide definitive information if performed on clinical samples obtained at initial presentation and before any therapy is initiated. Failure to obtain the necessary specimens at this time may miss an important diagnostic window of opportunity.” The SCH PICU delayed the specimen timing to be four hours after the treatment to hide the diagnosis.
Incorrect Specimen Used
1. SCH used a specimen taken NOT during the critical event at 5:00 AM, but at 10:25 AM by nurse Talia Osurman when the glucose had been corrected for 4.5 hours. (Order information above)
Specimen Destroyed
2. There was a blood specimen from the critical event, but this was not used and later destroyed.
Lab Fraud
3. SCH withheld the urine organic acids and acylcarnitine profile reports from the patient’s family and Best Doctors –a review service- for 8 months (PDF), telling the parents that both results were normal.
Although the glucose had been corrected, the C16, still elevated, pointed to the patient’s primary fatty acid oxidation disorder (FAOD): either CPT-II or CACT deficiency.