Specialist service for rare neurological conditions

Evelina London Children’s Hospital, part of Guy’s and St Thomas’ NHS Foundation Trust, will host a specialist service for patients with rare genetic conditions so they can be fast-tracked to earlier diagnosis and specialist care.

This service will focus on children and young people with genetic conditions affecting brain and spinal cord, known as Inherited White Matter Disorders (IWMDs). These rare conditions can lead to significant neurological difficulties, including problems with mobility, vision, speech and hearing, swallowing difficulties, and loss of cognitive skills.  

Through this service, patients and families will benefit from rapid access to specialist multidisciplinary teams, enhanced virtual clinic reviews to reduce the need for long distance travel, and stronger links with local hospitals to support investigations, monitoring, and symptom management closer to home. 

NHS England has confirmed that 3 paediatric centres across the UK will deliver this new model of care. Evelina London will lead the southern hub, working in partnership with Great Ormond Street Hospital to support families across London, the south-east, and the south-west of England.  

In addition, Evelina London will host a national IWMD registry service, led by Dr Rahul Singh, to capture data on patients of all ages with suspected or confirmed IWMDs across the UK. 

Dr Singh, paediatric and neonatal neurologist at Evelina London’s children’s neurosciences service, said: 

“Our Inherited White Matter Disorders service will help children and young people across London, and south-east and south-west England, to achieve more precise diagnoses and access specialist treatment sooner. The virtual clinic model offers a ‘one-stop-shop’ for families, reducing the burden of travel while ensuring expert input. We are also pleased to be able to share our specialist advice so that care can remain as close to home as possible.” 

He added: “The national IWMD registry service is unique. It is open to patients of all ages and aims to identify all individuals in the UK with suspected or confirmed IWMDs. By improving data collection and analysis, the registry will enhance clinical understanding of these rare conditions and help patients access clinical trials and emerging therapies.” 

Read the full story on the Evelina London website.