The South West Regional Metabolic Department based at the
Bristol Royal Hospital for Children is one of five national
Paediatric Specialist Centres. We provide comprehensive high
quality multidisciplinary care to children and their families
affected by metabolic disease across the South West.
The team
Consultants: Dr Germaine Pierre and Dr Effie
Chronopoulou
Specialist nurses: Gillian Alexander, Bethan
Clinton, Chloe Poole, Katie Raven, Samantha Mather and Anja
Keating
Specialist dietitians: Camille Newby, Abbie
Robotham, Georgina Dunning and Victoria Wilkins
Specialist pharmacist: Sam Whiting
We work closely with the specialist biochemists based in
laboratories at UHBW and NBT: Luke Hibberd (UHBW) Rebecca Hopkins
(UHBW), Dr Victoria Warburton (UHBW), Maryam Khan, Emma Smith, Dr
Helena Kemp (NBT).
The service
We see patients from 0-16 years with suspected or diagnosed
metabolic disease including those identified from newborn
screening.
Clinics we offer:
- Weekly clinics in Bristol which include multidisciplinary
consultant led clinics, dietetic clinics and nurse led
clinics.
- Outreach multidisciplinary clinics in Truro, Plymouth, Exeter,
Taunton and Bath.
- A transition clinic and service to support the transfer of
older children to adult services.
Mondays to Fridays 9am to 5pm, the on call consultant manages
acute admissions to the paediatric wards, NICU or PICU and
transfers from other hospitals. They carry the on call mobile phone
for clinical advice and management. Specialist nurses and
specialist dietitians also provide telephone support for patients
and telephone advice to other professionals.
Out of hours on weekdays and weekends a metabolic consultant is
on call for provision of specialist advice
CLN2 Batten Disease service
We provide a dedicated CLN2 Batten Disease service to patients
across the South West who are receiving treatment as part of the
managed access agreement for intraventricular infusions of
Cerliponase alfa. Infusions are administered every two weeks by the
Metabolic Clinical Nurse Specialist on Puzzle Wood
(E518).
New diagnoses of CLN2 Batten Disease in the South West region
should be referred to the Metabolic Consultant for discussion on
care management and treatment options.
