The first place you turn to is Dr Google

"At first, it's all a big whirlwind and you can't process the big bombshell that you've been given. Suddenly, it turns out the life you had mapped out is not going to be like that at all. Almost overnight, you become a geneticist, you become a physiotherapist, you become a nurse, you become a dietitian. You are now the expert."

Shelley is mum to Fraser, whose medical journey has been tough because he didn't have typical symptoms for any known conditions. But genetic testing found he had an alteration in one of his genes, leading to his diagnosis of Duchenne Muscular Dystrophy (DMD). As a family they later joined the 100,000 Genomes Project to find out why Fraser's non-textbook symptoms meant he didn't fall neatly into a faster DMD diagnosis.

In this episode, Chris and Shelley talk about the lived experience of families managing a rare disease, climbing Snowdon, and being active in supporting disability rights.