Over the summer, the podcast team met Dr. Lydia Green, a leading expert in the treatment of patients with Leukodystrophies (Inherited White Matter Disorders, IWMD). These disorders typically affect the transmission of nervous impulses throughout the body, negatively impacting patients’ development, communication, cognitive and motor skills.
This NHS England highly specialised service for adults and children aims to fast-track patients with these rare, often life limiting disorders, to expert teams across four centres in the UK (1 adult, 3 paediatric). From there, advice and guidance can be given through virtual MDT and clinic reviews, reducing travel time for families and bridging the gap between expert-led care and local teams.
As well as steering the paediatric service for the North of the UK within Leeds Teaching Hospitals Trust, in collaboration with Royal Manchester Children’s Hospital, Lydia is also working to develop pathways for genome-negative patients, where NHS testing has thus far failed to find a genetic diagnosis.
Though currently finding a diagnosis might not mean a cure, it does allow a degree of ‘closure’ for families, enables screening for known associated problems, reduces the on-going burden of tests, scans and investigations and allows access to genetic counselling.
The knowledge and expertise brought by Lydia and the IWMD team means that, even at the worst part of a family’s journey, they can be supported to find their way through, focusing on quality of life, family priorities and building a support network in the present and for the future.