Jessica Stephens is a 30 year old mum from Middlesbrough, United Kingdom (UK) who is affected with Ornithine Transcarbalmalyse, shortened as OTC Deficiency. Jessica lost her second baby, August, tragically to OTC deficiency when he was 3 days old in September 2020. It took around 9 months until she was diagnosed as a “carrier” of OTC. Jessica knew she still wanted to continue her family but with a 50% chance of passing on the gene variant again, she was unsure what to do. When she found out she was pregnant again in November 2021, she had a blood test to determine the sex of the baby, which confirmed he was a boy. She proceeded with a CVS to test the amniotic fluid and determine if her son was affected by OTC. Unfortunately, it was determined that her son did in fact have OTC deficiency as well. She decided that the kindest thing to do would be to end the pregnancy, as she couldn’t bare the thought of him suffering in pain like his older brother. He was born silently on January 16, 2022, his family called him Blake Arthur Stephens. This is their story.

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