Posted on 2 March 2015
Taking place in the York Hospital foyer, information and research on rare diseases was displayed and scientists and clinicians from the University and York Teaching Hospital were on hand to talk to the public about their research and how they provide care for different conditions.
The diseases featured in the event included Cystic Fibrosis, Human T Lymphotropic Virus, Rett Syndrome, Lowe Syndrome, African Sleeping Sickness, Congenital Disorders of Glycosylation and Neuroblastoma. Research about Rett Syndrome, HTLV and Congenital Disorders of Glycosylation are recipients of funding from the Centre for Chronic Diseases and Disorders (C2D2), and scientists and clinicians, as well as patients and volunteers, were available for informal chats about these conditions.
Dr Fabiola Martin, Senior Clinical Lecturer in HIV Medicine and Consultant in Sexual Health and HIV at York Teaching Hospital, is a specialist in retrovirology and set up the North East Retrovirology Referral Clinic (NERRC) at York Teaching Hospital, where she and her team provide care for patients with HTLV infection. She said: “It can take years for a patient with a rare condition to be diagnosed. Some conditions don’t even have a name yet since the causative pathogen, toxin or gene defect is unknown.
“I believe that through better communication and awareness of rare diseases the time from onset of symptoms to diagnoses and treatment can be drastically shortened. In some cases better awareness gains patients speedy access to a national or international drug trial.
“Approximately 3.5 million people in the UK suffer from a rare disease. 75 per cent of rare diseases affect children and 30 per cent of rare disease patients will die before their 5th birthday. There are over 6,000 recognised rare diseases and collectively rare diseases are not, in fact, rare.”
International Rare Disease Day, on 28 February, recognised that one in 17 people will be affected by a rare disease at some point in their life. This is the second year the York Hospital event has taken place.