Series 3 Episode 13: Abby Gardener and Tim Barrett. Wolfram syndrome / WFS1 Spectrum disorder

Released 1 April 2025

Abby Gardener describes how she was diagnosed with Wolfram syndrome after developing both insulin-treated diabetes and diabetes insipidus (when the urine cannot be concentrated) and how this has impacted her life. Professor Tim Barrett talks about how, throughout his career, he has been researching and providing care for patients with Wolfram syndrome. He explains that it is now recognised that there are a range of features that can result from the genetic change (WFS1 spectrum disorder) and that not every patient will have all the severe changes previously described in Wolframs syndrome.

Abby Gardener describes how she was diagnosed with Wolfram syndrome after developing both insulin-treated diabetes and diabetes insipidus (when the urine cannot be concentrated) and how this has impacted her life. The final diagnosis was given to her when she was 12, 8 years after she was first diagnosed with diabetes. This diagnosis preceded her loss of vision 11 years later. She has not been held back by her multiple medical conditions travelling throughout the world with the scouts, being an accomplished dancer, getting a degree in psychology, and training as a teacher and a councillor.

Professor Tim Barrett, throughout his career, has been researching and providing care for patients with Wolfram syndrome publishing over 30 papers.
This is the paper he published in the Lancet in 1995 from the research he did during his PhD studies about the most severe form of this clinical condition. https://pubmed.ncbi.nlm.nih.gov/7490992/

It is now recognised that there are a range of features that can result from the genetic change, WFS1 spectrum disorder, and that not every patient will have all the severe changes previously described in Wolframs syndrome. This is a review he wrote about WFS1 spectrum disorder:
https://pubmed.ncbi.nlm.nih.gov/20301750/

His present trial which is testing if an antiepileptic drug Sodium Valproate can delay visual loss is described in this paper:
https://pubmed.ncbi.nlm.nih.gov/40010822/

Tim set up the Birmingham multi-disciplinary clinic for patients with Wolfram syndrome and WFS1-spectrum disorder that Abby has attended since her diagnosis was made. Information about the paediatric and adult clinics are provided here:
https://wolframsyndrome.co.uk/clinic-dates-information/

The charity Wolfram Syndrome UK is a key partner these clinics and provides a lot of information and support for WS patients and their families. They organise an annual conference where families can meet each other and hear from experts in the condition. The website of the charity is here:
https://wolframsyndrome.co.uk/