NHS patients with rare genetic disorders to be fast-tracked to earlier diagnosis and specialist care

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.

IWMDs are diseases which usually affect the white matter of the brain and spinal cord, causing symptoms such as impaired mobility, vision, speech and hearing, inability to swallow and loss of cognitive skills. These conditions are estimated to affect thousands of adults and children of all ages and ethnic backgrounds in the UK.

IWMDs can present at any age, leading to all levels of disabilities. For most patients, symptoms progress over time, although some may have a largely inactive form of the disease or one that is relapsing-remitting, with episodes of worsening symptoms.

Children with IMWDs tend to have a low average life expectancy of up to five years from diagnosis, while adults may have a more slowly progressing condition.

The new service, which expects to review more than 300 patients a year, provides a specialist multi-disciplinary team where those with a suspected IWMD can be referred by local neurology and genetics services as well as other specialist services.

To enable faster diagnosis, the service includes access to new nationally-designated molecular genetics laboratories with expertise in next-generation sequencing, and, in particular, in IWMDs.

Following a rapid diagnosis, a care plan will then be designed in conjunction with the local team. Offering tailored care more quickly will help improve patient outcomes through a better understanding of their condition and improved symptom management.

The new service will also include registering patients with the new IWMD clinical registry, which means eligible patients will have better access to new treatments and clinical trials as and when they become available.

A month ago, NHS England announced that the first child in the UK – a 19-month-old baby girl call Teddi – had received life-saving gene therapy (Libmeldy) on the NHS for a fatal form of leukodystrophy called metachromatic leukodystrophy (MLD).

The launch of the NHS’s new Inherited White Matter Disorders Diagnostic and Management 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.

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”.

Health Minister Helen Whately said: “This pioneering new service means people with rare IWMDs will be diagnosed earlier and treated faster.

“It’s thanks to the NHS successfully harnessing research and joining up specialist services.

“Our Rare Diseases Action Plan committed to reducing health inequalities and improving the lives of people with rare diseases. This is an important step towards fulfilling those commitments”.

Mum Nahed Sarig knows how crucial this will be for families. When her daughter Mila was born, she 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. Mila had a genetic test which diagnosed Alexander disease, a very rare form of an IWMD.

Nahed 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”.

Doctors initially adopted a wait and see approach, but Mila was then placed in the care of specialist Dr Rahul Singh, consultant paediatric and neonatal neurologist, and his team at Evelina London Children’s Hospital in London.

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”.

Sara Hunt, CEO 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”.