Manchester University, UK
Jacqueline Imrie, having qualified as a paediatric nurse obtained a Degree in Biochemistry and Genetics and MSc Genetic Counselling. She worked at the Willink Metabolic unit Manchester for 20 years seeing patients with many inborn errors of metabolism. In 1999, she started as the first Niemann-Pick nurse, funded by NPUK, setting up the national database and supporting families and professionals. Having retired from full time work for NPUK, she now does Consultancy work in the field of NPDs, which includes raising awareness to aid quicker diagnosis and contributing to scientific and clinical papers.
Niemann-Pick Type C is a rare neurovisceral inherited lysosomal storage disorder affecting children and young adults. NPC has an incidence of about 1;120,000 and there are around 80 affected patients in the United Kingdom aged from 1 year to 60 years, with approximately half being children . NPC is a life limiting disease and the main symptoms area vertical supra nuclear gaze palsy, ataxia, dysphagia, dysphasia and cognitive loss. Dementia is an inevitable symptom of the disorder that is even apparent in young children. This presentation will give more information about NPC, the links with NPC and Alzheimers, a few case studies and coping strategies used by families to cope with this symptom of the disease.