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By Disabled People for Disabled People

Thursday, 6 April, 2023

Diagnosis fast-tracked by NHS for rare genetic disorders

Hundreds of people with a range of rare conditions primarily affecting the central nervous system will be fast-tracked to diagnosis and specialist care, thanks to the launch of a pioneering new NHS service.

Patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, 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.

Early genetic testing and ‘one-stop’ virtual clinical reviews will help provide a more specific diagnosis and clearer path to specialist treatment for children and adults affected by the disorders, which can be degenerative and life-limiting. This means patients will be diagnosed more quickly and can receive support to manage their symptoms sooner, to help ensure the best possible quality of life.

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