A new specialist service for patients with rare brain and spinal cord conditions has been launched in London.
The service, at Evelina London Children’s Hospital, will allow patients with rare genetic conditions to be fast-tracked to earlier diagnosis and specialist care.
Support will be available for children with Inherited White Matter Disorders (IWMDs), genetic disease that affect the brain and spinal cord. These can cause symptons including impaired mobility, vision, speech and hearing.
Patients will have rapid access to expert teams, increased virtual support to reduce unnecessary travel to distant face-to-face appointments and improved support from nearby clinics providing local testing and symptom management.
Mila Sarig, 5, was diagnosed with Alexander disease, a very rare form of an IWMD when she was just two years old. Her mother Nared had initially noticed delays in her development after her birth which became progressively more pronounced.
A subsequent MRI scan revealed white matter changes in Mila’s brain and she was referred to Evelina London Children’s Hospital where she was treated by Dr Rahul Singh, a consultant paediatric and neonatal neurologist.
Ms Sarif 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 Singh 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.”
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.”
