Royal Manchester Children's Hospital

Willink Biochemical Genetics Unit (WBGU) at the Royal Manchester Children’s Hospital

Services Provided

Gaucher Disease
Diagnosis and initiation of therapy where indicated for paediatric and adult patients
Currently we have two clinics per year with Professor Cox from Cambridge

Gill Moss- Clinical Nurse Specialist –Team Leader- Paediatric Gaucher Disease

Contact number: 0161 922 2147
Fax number:  0161 922 2303
Email: gill.moss@cmmc.nhs.uk

Mucopolysaccharide and Related Lysosomal Storage Disorders
Diagnosis and treatment of MPS I
Diagnosis and monitoring of MPS II, III, IV, VI, Mannosidosis, Fucosidosis, GM 1 Gangliosidosis
Clinical trial site for MPS II, MPS VI, Paediatric Fabry and Pompe disease

Fabry Disease (Hope Hospital)
Diagnosis, treatment and monitoring of Fabry disease
Monitoring of adult LSD patients

Fabry disease is managed at the Hope Hospital site where families are encouraged to attend together so that they can meet adult and children’s physicians and nurses at the same time. This has two major benefits: families have excellent continuity in care and doctors gain a unique understanding of the variation in symptoms across affected individuals, encompassing the natural history of diseases from childhood through into adult life within a seamless transition.

Niemann-Pick Disease
Diagnosis and Initiation initiation of symptomatic palliative treatment and follow-up
Clinical trial site for Niemann- Pick C

Other Disorders
Krabbe disease, Tay-sachs

What does NCG Designation mean?

The shared care management of children and adults with lysosomal storage disease (LSD) services are based at the Willink Unit, Royal Manchester (RMCH) and the department of LSD, Hope Hospital, Salford. Both sites are designated LSD centres by the National Specialist Commissioning Advisory Group (NCG). At the NCG centre the initial visit will include a discussion of the disease and its future management. Normally this visit is arranged after a diagnosis is made in the laboratory. Treatments, if available , such as enzyme replacement therapy and bone marrow transplant are organised at the site, and the Nurse Specialist involved will liaise with the family about the future care. We also are a resource for other health care professionals to contact us as these diseases are still rare. When a diagnosis is made it is often a shock for the families and they will require support and guidance throughout.

If treatment is not initiated here at the NCG site then the staff at the centre will arrange appropriate follow up and monitoring of the patients condition. Most patients attend clinic twice a year, but more frequently if needed.

Who are we and how do you contact us?

Royal Manchester Childrens Hospital
 Willink Biochemical and Genetics Unit
Royal Manchester Childrens Hospital
Hospital Road
Swinton
Manchester
M27 4HA
Tel:0161-922-2137/2138
Fax 0161-922-2303
Willink Unit: O161-922-2137/2138

Dr Simon Jones - Consultant
simon.jones@cmft.nhs.uk
Gill Moss - Clinical Nurse Specialist (Paediatric Gaucher/Metabolic) 
Gill.Moss@cmft.nhs.uk
Jean Mercer - Clinical Nurse Specialist (MPS I)
jean.mercer@cmft.nhs.uk
Jackie Imrie - Clinical Nurse Specialist (Niemann- Pick)
jackie.imrie@cmmc.nhs.uk