The MRC Centre for Neuromuscular Diseases provides a whole of life service to patients with neuromuscular conditions. Patients who attend paediatric clinics and eventually go on to attend adult clinics will still been seen by the same specialists. This continuity of care helps deliver a smooth transistion from one clinic to another.
We regularly hold a number of clinics in ten locations across the North East and Cumbria.
Clinics include:
NSCT new presentations and new diagnoses
Adult Muscle
Children’s Muscle
Myotonic Dystrophy Clinics
Congenital Myaesthenic Syndrome Clinics
Some of the responsibilities of the Specialist Nurse in Neuromuscular Genetics include:
• Being present in new diagnosis consultations
• Arranging Home Visit 2 weeks after diagnosis to provide support and help family understand what the next steps will be and where they can find help
• Arranging further follow up home visits to provide support to the family
• School , nursery and college visits to educate staff about the needs of the child/young person
• Teaching and presenting to multidisciplinary professionals about neuromuscular conditions
• Attending patient reviews and school reviews
• Preparing reports for LEA for Statements of Special Educational Need
• Genetic Screening
• Preparing a family pedigree
• Genetic Counselling and liaising and working closely with Genetic Counsellors
• Carrier testing
• Attending multidisciplinary meetings in hospitals for inpatients
• Assist with discharge planning
• Providing advocacy for patients children and adults when they attend meetings relating to their cares
• Providing bereavement support
• Advising on the next steps for PGD
• Providing a point of contact for advice regarding any aspect of cares in relation to neuromuscular conditions
• Providing a Nurse Consultant Service for patients with Myotonic Dystrophy
• Running Myotonic Dystrophy Clinics
• Home visits and school visits and multidisciplinary meeting attendance for the whole of the old Northern Region from Barrow in Furness to the Scottish Border in the West and from the Scottish Border to Middlesbrough/North Yorkshire in the East.
• Attending and presenting at Conferences worldwide and local
• Taking blood samples and skin biopsies on patients and other nurse screening assessments
• Contributing to development of guidelines and publications for the team and working alongside MDC to provide relevant up to date information on our practices
• Most importantly providing ongoing support to affected patients and their families for the whole of their lives
• Working with multiple professionals through the transition to adult services and indeed adulthood.
• Involved in palliative care networks and working closely with all hospices in the northern region
• Assisting research colleagues in identifying patients who may be eligible, providing printed information to patients, assisting research colleagues to obtain samples for research purposes
Clare Pickthall
25th March 2014
