Working to improve the lives of patients with rare diseases




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Video title: Working to improve the lives of patients with rare diseases
Released on: March 25, 2015. © PTV
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In This Episode:
    Niemann-Pick Diseases are a group of rare genetic diseases with similar clinical presentations, but quite separate causes.
  • Summary
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Niemann-Pick Diseases are a group of rare genetic diseases with similar clinical presentations, but quite separate causes. They are named after the two doctors who described the symptoms in the early part of the 20th century. They were later classified as A, B and C in 1958. You may also read about Type D – this refers to a certain Niemann-Pick type C mutation occurring only in Nova Scotia. Niemann-Pick Diseases are classified as genetically caused Lysosomal Storage Disorders (LSD’s).
Niemann-Pick UK is a charitable organisation offering care, support and information to families affected by Niemann-Pick disease and the professionals involved in their care. We give emotional, as well as practical support and have developed a strong family support network, helping to reduce feelings of isolation and despair. From our Central Office, located in Washington, Tyne and Wear, we provide support and information regarding all aspects of Niemann-Pick Disease, via a 24-hour help line, educational literature, regular newsletters and e-bulletins. Our website provides information on all aspects of the Niemann-Pick diseases, plus practical advice for daily living. Our Clinical Nurse Specialist provides expert care and practical advice, plus home visits whenever necessary. Genetic counselling and advocacy services are also provided. Our Families Officer provides non-clinical advice and information, offering an individual advocacy service which includes home visits and assistance at clinic appointments. In addition we promote relevant research, raise awareness and offer education and information to carers, associated professionals and the general public. We hold an Annual Family Conference, comprising of adult and children’s programmes, and incorporating our Annual General Meeting. The Conference highlights the most recent advances in research, and provides an ideal opportunity to strengthen our family support network.
Niemann - Pick UK
Niemann - Pick UK