March 24, 2025
A Critical Oversight: Hours in the ER
When Kate’s son was born, everything seemed normal—until day 4, when Etan suddenly stopped nursing. She immediately sensed something was wrong. Despite her concerns, his symptoms, including hypothermia, were initially misdiagnosed as sepsis and dismissed as “not a priority.”
A Rare and Overlooked Condition
After pushing for further medical attention, Kate and her son endured 12 agonizing hours in the ER. The real issue—dangerously high ammonia levels—was not detected until Etan was transferred to another hospital in critical condition. He was only 5 days old at the time. Blood tests quickly pointed to a metabolic disorder, and it was suspected Etan had a form of a urea cycle disorder, specifically Ornithine Transcarbamylase Deficiency (OTCD).
A targeted genetic panel confirmed the diagnosis. OTCD is a rare genetic condition, which usually impacts boys more severely than girls because it is X-linked (boys only have one copy of the OTC gene). Standard genetic tests like Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) would have captured the condition, if OTCD was routinely screened for in the newborn test in Canada. Unfortunately, it is not.
Living with an Ultra-Rare Mutation
Etan’s specific OTC gene mutation—one of over 500 known variations (there are over 500 mutations identified in patients but 1,500 possible mutations were studied in a yeast model) —is ultra rare. Only about a dozen people are impacted by this variant worldwide, limiting the patient’s ability to process protein. As a result, Etan can only consume 5 grams of protein per day from food.
From Diagnosis to Advocacy
Determined to turn grief into action, Kate founded a non-profit, CureOTCD and became a leading advocate in the rare disease community, pushing for greater awareness, more research and improved treatment options for this rare condition, particularly for the pediatric population where there is a greater need.
Fighting for Change in the Rare Disease Community
Her journey has connected her with key figures in the field – researchers, clinicians and other rare disease advocates – as she continues working toward better outcomes for families facing similar challenges.
Find out more about her story at: https://www.patientvoice.io/shorts/life-with-otc-deficiency-etan
