Fast-tracking the diagnosis of neurology patients with Inherited White Matter Disorders through an enhanced service
NHS has launched a new service that aims to fast-track the diagnosis and specialist care of hundreds of people with rare genetic conditions affecting the central nervous system. The service will primarily benefit patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, which can be degenerative and life-limiting.
IWMDs refer to genetic disorders that predominantly impact the white matter of the nervous system including the brain, spinal cord, and peripheral nerves. While not all IWMDs are progressive, many are, causing a gradual decline in neurological function that can affect movement, speech, feeding, vision, hearing, and cognitive abilities. In some cases, this can lead to a shorter lifespan. The severity and manifestation of IWMDs vary depending on the specific cause of the white matter disease, and they can affect individuals of all ethnicities, ages, and genders.
There are three centres for children and one for adults. Our Children's Hospital is one of the three centres for children. The centres are working in partnership with several other sites across England. The new service offers a combination of virtual and face-to-face care with access to a multidisciplinary team and range of experts, as well as early genetic testing and virtual clinical reviews to provide a more specific diagnosis and clearer path to specialist treatment.
The service is expected to review more than 300 patients a year and will register patients with the new IWMD clinical registry, giving them better access to new treatments and clinical trials as they become available. The launch of the service follows the recent launch of the England Rare Diseases Action Plan 2023 by the Department of Health and Social Care, with input from NHS England.
Dr Evangeline Wassmer, Paediatric Neurology Consultant from our Children’s Hospital Neurology team said: “The new service helps us to provide a greater quality of care to our patients by providing them with better access and knowledge to possible treatments for those challenged with IWMDs. Genetic testing allows us to better understand the challenges of our patients earlier on in life so that they can harness greater support from clinical communities. We can personalise pathways to a greater extent for our patients to ensure optimal care.”