Taboo Talks Ep.4: Jessica’s Story

Jessica Stephens is a 30 year old mum from Middlesbrough, United Kingdom (UK) who is affected with Ornithine Transcarbamylase Deficiency, shortened as OTC. 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 bear the thought of him suffering in pain like his older brother. He was born silently on 16th Jan 2022, his family called him Blake Arthur Stephens. This is her story.

Listen to her full story on collectively coeXisting.

Taboo Talks

We launched our “Taboo Talks” series on the Remember The Girls Podcast, collectively coeXisting. Throughout this series, we will be highlighting different issues X-linked carriers face that are rarely discussed due to the stigmas and controversies that surround them. We hope that in doing this that we can emphasize that there are people, families, and loved ones behind these decisions. These conversations may be uncomfortable, but they must be heard, and we must respect the voices of the carriers and female patients who share their journeys. These are not tales – these are their lives, their journeys and their personal recollections of who they are in this world. These personal stories are meant to be shared and used as support for future women who may go through similar situations and come face to face with some tough decisions. As a disclaimer, this podcast series features sensitive topics. Understand that the opinions and topics do not express or represent the organizations personal feelings but are here to solely share the guest speaker’s journey and life’s experiences. These opinions and stories are theirs and theirs alone. Please also consult your doctor or a mental health professional regarding your own personal care.

For our first collection of episodes, The Stories Behind TFMR, we will be speaking to X-linked carriers who have experienced a TFMR, or termination for medical reasons. A TFMR occurs when a pregnancy is terminated due to a chromosomal, genetic or structural fetal anomaly, or where continuing the pregnancy would risk the health or life of the mother. We share these conversations to give a glimpse into the complicated world of family planning as an individual with an X-linked mutation. Please know that TFMR for X-linked conditions is not available in all US states or countries.