Rare Disease Day 2015: SBI researcher's efforts to raise awareness of rare genetic disorder
Saturday 28th February was Rare Disease Day, a global event that aims to raise awareness among the general public and decision makers about rare diseases and their impact on patients’ lives. Rare diseases or disorders are classified in Europe as those that affect 1 in 2000 individuals; patients face a range of challenges including a lack of scientific knowledge and quality information on the disease, often resulting in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
Susan Kennedy, a Postdoctoral Research Fellow here at SBI is involved in organizing a 5km fun run along with three friends to raise funds and awareness for a rare disease called Prader Willi Syndrome (PWS). Diagnosed in infants, PWS is a rare genetic disorder that occurs at, or near the time of conception when a spontaneous genetic error occurs for unknown reasons. It causes low muscle tone, cognitive disabilities, problem behaviors, a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity amongst other features. In Ireland, PWS affects just over 100 individuals. Children with PWS must be put on a strict calorie controlled diet and cannot be left unsupervised in areas where there is food available. Living with PWS involves a lifetime of challenges, physiotherapy, occupational therapy, speech and language therapy, dietician and medical visits. The Prader Willi Syndrome Association of Ireland (PWSAI) offers support and information to families with PWS children and hosts annual PWS Family Weekends.
The PWS 5km inaugural run began last year and was such a success it is scheduled to take place on 21st June 2015 in the grounds of NUI Maynooth, Co. Kildare. So take the challenge, learn about PWS from the PWSAI website or another rare disease, or lace up your runners and get training for the PWS 5km run in June. For more details on the PWS 5km run please see their Facebook page or contact Susan directly.
