21st July 2023

Genomics England: Owen’s Story

Life since getting a genetic diagnosis for a rare thyroid condition

Owen lives with a rare genetic thyroid condition.

In this film, Owen’s parents Sarah and Rob share how life has changed for their family in the nearly 5 years since the diagnosis through whole genome sequencing and the 100,000 Genomes Project.

The diagnosis meant the ability to find a treatment that works for Owen. He’s also been able to remain in mainstream school and his development has improved.

Rob and Sarah share how it’s taken away so much uncertainty and stress for them and allowed them to get in contact with other families whose children have similar conditions to Owen’s. As Rob says, ‘It’s not like “click your fingers” and everything’s fixed, but it’s an answer and it’s a way forward.’ Genomics can provide hope for the future, and Owen is a powerful example of that.

You can read more about Owen here:


We also meet with Rachel who has been living with rare, incurable sarcoma for over 20 years and hear the story of Chris Martin who lived an incredible life, tragically cut short by a rare soft tissue sarcoma in 2015 – just 2 years after he first visited the doctor for a lump under his right arm.

You can read more about Rachel and Chris’s stories here:



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