Over the last few months, we have been working with the Specialised Healthcare Alliance (SHCA) on their report on reducing the diagnosis time of rare disease. This is part of our 2022-25 strategy to reduce the diagnosis time for pituitary conditions. Some of our staff and community members provided comment for this

The SHCA has produced a new report exploring the impact of long delays for rare disease diagnoses on those affected. ‘Navigating the labyrinth: reducing delays to a rare disease diagnosis’ was developed in recognition that a person’s rare disease journey begins not at the point of diagnosis, but possibly many years before.

The title of the report is inspired by the experiences of one member of the SHCA, who believes that their personal journey to their rare disease diagnosis is best described as a labyrinth: a complex maze filled with wrong turns and dead ends which is challenging to navigate. The journey to a rare disease diagnosis is commonly described as a ‘diagnostic odyssey’, but an odyssey is a story with a definitive beginning, middle and end. For many people living with a rare disease, their journey is not so linear and may never reach its conclusion.

The SHCA report seeks to reduce delays to receiving an accurate and timely diagnosis. The report explores the places in the policy landscape where there is opportunity for improvement and sets out a series of 10 recommendations for where policymakers can go beyond their existing commitments to deliver real change for people living with a rare disease in the UK. 

“We are so pleased to have been able to contribute to this report. Thank you to our members who got involved. The report gives really tangible actions for policymakers, and we hope that these recommendations will bring real change to the diagnosis time for rare diseases.”

Ren Renwick, CEO of Pituitary Foundation

You can read the report on the SHCA website.