Cushing’s syndrome was the focus of a TV programme shown yesterday (February 28) that aimed to raise awareness of over 6,000 rare, genetic and undiagnosed medical conditions as part of Rare Disease Day 2022.

The film, which was supported by HRA Pharma Rare Diseases in association with Genetic Alliance UK, formed part of ITN Productions’ ‘Shining a Light on Rare Conditions’ initiative. It featured Dr Kate Scoffings, who is both a GP and former Cushing’s disease patient.

Cushing’s syndrome is a rare endocrine condition that often goes undiagnosed as its symptoms, such as weight gain and thinning skin, can be vague and overlap with those of more common conditions.

Kate, alongside the consultant endocrinologist Professor Mark Gurnell, who first diagnosed her, discussed the difficulty of identifying Cushing’s syndrome, and the importance of a timely and accurate diagnosis.

The interview with Kate can be found by clicking here.

The link to the full Shining a Light on Rare Conditions programme is here.