Von Hippel Lindau syndrome

Improving care for people with rare diseases

Today (28 February) is Rare Disease Day – a chance to raise awareness of these conditions and to highlight the fact that most have no cure and often go undiagnosed.

At Salford Royal, our experts care for and treat many people with rare diseases, including neurological conditions, kidney diseases and metabolic and endocrine disorders. Although each disease is rare, collectively as many as one in 20 people will live with a rare disease at some point in their life.

Our care doesn’t just cover the physical symptoms – we also have a team of clinical psychologists who help patients and their carers deal with the emotional effects of having a rare disease. Both medical care and psychological support are areas where we aim to improve services by carrying out research.

One example of this is a recent review of the rare hereditary condition Von Hippel-Lindau syndrome (VHL) by clinical psychologists and neuropsychologists.

This lifelong syndrome affects one in 53,000 people in Europe and those affected have a higher risk of developing tumours in different parts of the body. Currently there’s no preventive treatment for the tumours. If they are detected early, they can be removed, but otherwise they may become cancerous and spread.

Dr Abigail Methley is one of the co-authors of the review and worked with former patient Christine Morris and her husband Howard, who gave a nine-point guide on how to help people living with (VHL).

Dr Methley said: “People with VHL will have fluctuations in their symptoms over the years but it’s likely to affect them and their families for their lifetime. They may have a lot of uncertainty about how their condition will progress and sometimes they will have to accept situations that can’t be changed, such as loss of sight.

“As well as the physical problems, people with VHL may experience psychological distress. It’s very important that psychological support is available to families affected by VHL but more research is needed to see what interventions are the most effective ways to help.

“We are really grateful to Christine Morris and her husband for their insights and guidance, including the advice that healthcare professionals really need to focus on person-centred continuous care and be aware of the psychological and cognitive symptoms of VHL.”

The paper from Dr Methley and her colleagues Dr Benjamin Dawson and Dr Alistair Teager  was published in the European Journal of Palliative Care.

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