Children with rare genetic diseases will get speedier diagnoses and specialist care thanks to a new service at Evelina Children’s Hospital.
It’s not a physical facility, but one of three paediatric services NHS England has set up across the UK where families can get rapid access to expert teams and improved virtual support.
Five-year-old Mila Sarig, who was diagnosed with Alexander disease, a form of an inherited white matter disorder (IWMD), affecting the brain a spinal cord, has already benefited from the service.
When Mila was born, mum Nahed noticed her daughter’s speech, movement and cognition were developing slowly.
Mia was diagnosed with global developmental delay but further tests revealed she had Alexander disease.
Nahed Sarig said: “I’d never heard of IWMDs before so it was obviously heartbreaking and difficult, I didn’t know what was going on and I had to do my own research.”
Mila’s care was passed 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 heartache 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 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.”