Spotlight on Patient Association: The Freya Foundation

The Freya Foundation was founded in 2014 by Kelly and Dave after their daughter Freya was diagnosed with PDH deficiency a month before her first birthday in 2012.  There was very little information about PDH at this time, and Kelly wanted to try and do something to help bring families together and try and get more information about PDH deficiency by improving the understanding of the condition and hope for a better future for those affected.

Freya celebrated her 13th Birthday in July; an age Kelly & Dave were told that Freya would never reach.

We are currently the only known UK charity that has commissioned a research project into PDH deficiency, in 2023 we became affiliated with MetabERN who are the European Reference Network for Hereditary Metabolic Disorders and at our meet up last November we announced a groundbreaking gene therapy research project which is the first of its kind in the UK and Europe for PDH Deficiency. We work closely with doctors and dieticians around the both the U.K. and Europe and have completed the first UK Natural History study for PDH deficiency.  

Each year we hold a family meet up bringing together families from across the U.K. These meet ups have become a vital source of support and give families the opportunity to share advice stories and just be together with other families that are going through the same.  For more information about The Freya Foundation please visit www.thefreyafoundation.co.uk