Stroke and dementia are linked in people’s minds to the aging process, but there are a number of genetic diseases that can cause these conditions – and sometimes in much younger patients. These genetic diseases are relatively rare, but they do cause significant suffering for thousands of patients around the UK. The most common of these inherited disorders is CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL patients are usually diagnosed following multiple small strokes, but they also often suffer from migraines and depression - plus vascular dementia as they grow older. CADASIL is a genetic condition caused by a small mutation in a gene called NOTCH3 which results in progressive damage to blood vessels in the body.

One of the difficulties with a rare disease is that patients are often referred to a specialist clinic many miles from their home. CADASIL patients are referred to the national service based in Cambridge and led by Professor Hugh Markus, Professor of Stroke Medicine at the University of Cambridge and Consultant Neurologist at Addenbrooke’s Hospital. Professor Markus and his team have been caring for these patients for many years, but recognised that some found the regular journeys to Cambridge long, arduous and expensive and it was agreed that a trial of telemedicine might be the answer. 

“Telemedicine is the use of online video communication for medical diagnosis and monitoring. I had been impressed by the use of telemedicine that I’d seen in Australia, where of course the distances between a patient and the service they need can be many hundreds of miles. With widespread internet access and improvements in software, we felt the time was right to see if telemedicine could reduce the need to travel, without significant impact on the quality of follow-up consultations. With generous funding from the Evelyn Trust, we started a two-year trial in late 2015 and the results so far have been very encouraging, with most patients reporting that telemedicine is an effective tool,” explains Professor Markus. 

Patients are seen in person for their first consultation and then the team use Skype for follow up appointments. Patients are offered help to install Skype and test their systems, then they are encouraged to complete a questionnaire about their experiences after each half hour consultation. Professor Markus also completes a structured questionnaire from the clinician’s point of view after each consultation.

“This telemedicine trial will complete in late 2017 and then the data will be fully analysed. The key to success will be clinical efficacy, combined with patient enthusiasm for the new approach. We’re very hopeful that the early indications of a very positive impact on patient experience will continue throughout the trial,” adds Professor Markus.

To find out more about CADASIL and the national service, visit www.cadasil.co.uk