The story of Nicole
I wanted to get in contact in view of rare diseases day 2016 on the 29th February. My name is Nicole Coleman , I am 23 years old and live in Plymouth. I work on special care baby unit at Derriford Hospital as a nursery nurse. Last September I was diagnosed with lysosomal acid lipase deficiency known as LALD. It is a genetic disease and is classed as ultra rare with only 49 known in the uk. LALD is a multi-system disease and common manifestations are liver, gastrointestinal and cardiovascular complications. The drug kanuma has just been rejected by NICE in their interim decision in treating LALD patients. The general public have until the 10th March 2016 to summit their views and feedback to NICE on the decision made before making their final decision on the 22nd March 2016. The rare disease day 2016 theme is ‘patient voice ‘. I as an individual am trying to get as much support and feedback as possible before the final decision is made. Also to raise awareness of this disease.