28 August 2014

Rare Disease UK (RDUK) role for Fabiola

HYMS Senior Lecturer in HIV Medicine and Honorary Consultant in Sexual Health and HIV Medicine, Dr Fabiola Martin, has become a member of the Rare Disease UK (RDUK) management committee.

RDUK is a national alliance for people with rare diseases and all who support them.

RDUK has been working to ensure the UK develops an effective strategy for dealing with rare diseases. It recently launched a landmark report ‘Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy’

To achieve the UK-wide vision for rare diseases, a UK Strategy for Rare Diseases has been launched by the Department of Health in England, making 51 recommendations, which all four countries of the UK have committed themselves to (https://www.gov.uk/government/publications/rare-diseases-strategy).

RDUK recognizes the fact that patients with infectious disease face a number of different issues to those affected by rare genetic conditions including fear of stigmatization and potential ostracisation of themselves and their families in their communities.

Fabiola Martin, senior lecturer at the Centre for Immunology and Infection, HYMS, Department of Biology at the University of York, who specialises in the rare infectious disease Human T cell Lymphotropic Virus (HTLV) said:

“I’m delighted to be part of RDUK and am looking forward to supporting the implementation of rare disease strategy for people who are affected by rare infectious, especially chronic diseases such as HTLV, leprosy and leishmaniasis.

“Lack of funding for medical education, drug development and prevention strategies are all too commonly observed in conditions that are rare, but even more so if there is a stigma associated with disease. Patients with infectious disease are often blamed for carrying it, especially if the infection is sexually acquired. Patients can find it difficult to voice their concerns publically.” 

In support of her membership of RDUK, Fabiola Martin is planning a nationwide patient survey exploring patients’ experience of living with a rare infection and to facilitate James Lind Alliance (http://www.lindalliance.org/) priority setting up partnerships for different rare infectious diseases in the UK to bring together patients, carers and clinicians together to identify and prioritise the top ten ‘unanswered questions’ about the effects of treatments they agree are most important.

Fabiola Martin also took part in a Rare Disease Day 2014 exhibition at York Teaching Hospital earlier in the year http://www.yorkpress.co.uk/features/health/11057035.Experts_put_rare_diseases_on_the_map/