New specialist service for patients with rare neurological conditions

Last updated: Wednesday, 29 March 2023

Children's models

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.

NHS England have announced there will be 3 paediatric centres across the UK, one of which is at Evelina London Children’s Hospital - delivered with Great Ormond Street Hospital.

Leading the southern hub, Evelina London Children’s Hospital will provide support for families across the south of England.

Children and young people with genetic diseases that affect their brain and spinal cord, known as Inherited White Matter Disorders (IWMDs), will now have rapid access to expert teams, increased virtual support to reduce unnecessary travel to distant face-to-face appointments, and improved local support from nearby clinics providing local testing and symptom management.

IWMDs can cause symptoms such as impaired mobility, vision, speech and hearing, inability to swallow and loss of cognitive skills.

Mila Sarig, age 5, was diagnosed with Alexander disease, a very rare form of an IWMD when she was just 2 years old.

When Mila was born, mum Nahed began to notice small delays in her development. Nahed assumed her daughter would catch up, but the delays became more pronounced in terms of Mila’s speech, movement and cognition.

Mila was diagnosed with global developmental delay, but when Nahed told doctors her daughter’s leg was also shaking, a subsequent MRI scan revealed white matter changes in her brain. Mila had a genetic test which diagnosed Alexander disease.

Nahed Sarig said: “I’d never heard of IWMDs before so it was obviously heart breaking and difficult, I didn’t know what was going on and I had to do my own research.”

Mila’s care was transferred to Evelina London Children’s Hospital and she saw Dr Rahul Singh, consultant paediatric and neonatal neurologist.

Nahed said: “As soon as we were under the care of Dr Singh, it made all the difference. Patients with an IWMD need targeted specific inputs and each child needs to be treated differently. There will be a lot of heartaches for families going through this diagnosis, but with the new service they will have doctors who really understand it and they will have the most up to date information and support which will greatly improve quality of life.”  

Dr Rahul Singh, paediatric and neonatal neurologist at Evelina London Children’s Hospital, said: “Our Inherited White Matter Disorders service will help children and young people across London, and south east and south west England, to have a more specific diagnosis of their condition and specialist treatment. The virtual clinic review will provide a ‘one-stop-shop’ for families and save them time in travelling long distances for face-to-face appointments. We’re also pleased to be sharing our expert advice to keep patients’ care close to home.”

Evelina London will also host a national IWMD registry service, led by Dr Rahul Singh.

Dr Rahul Singh continued: “The national IWMD registry service is unique, it’s available for patients of all ages, and we aim to identify all patients across the UK with suspected or confirmed IWMD. This registry will help to provide more data and analysis which will improve clinicians’ understanding of IWMDs, and offer patients better access to clinical trials and new treatments.”

John Stewart, Director for Specialised Commissioning at NHS England said: “This new service is a pioneering model of NHS care, with a combination of virtual and face-to-face care with access to a range of experts.

“This means hundreds of children and adults will see IWMD specialists and get a genetic diagnosis sooner. The new clinical registry also provides opportunities for clinicians to learn more about the condition, identify patients likely to benefit from trials of potential new treatments and will enable patients to share information about how they are feeling.”

Leukodystrophies are a group of rare, genetic conditions that affect the white matter of the brain.

Sara Hunt, Chief Executive Officer of Alex TLC, The Leukodystrophy Charity, said: “The need for improved access to care and treatments for the leukodystrophy community are well known to Alex TLC. This new service and registry will help to alleviate these health inequalities, improve patient outcomes and provide invaluable data with which to promote vital research. 

“As patient voice representatives for this project, it has been inspirational to see how valued and influential our community’s priorities have been within development and implementation of the Service and Registry. The impact for patients, and those that care for them, will be significant and we look forward to our continued involvement.”

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