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Niemann-Pick Annual Family Conference

Care & Support - NCG Centres - Addenbrooke's Hosptial

Addenbrooke's Hospital

The Paediatric LSD team provide a family centred service for the diagnosis, treatment and management of all lysosomal storage diseases/ disorders. This service is a national designated centre for Lysosomal storage diseases and provides multidisciplinary clinics, admission for diagnosis, investigations, management and ongoing long term care and assessments.

The team work closely with the family and an extensive multidisciplinary team both hospital and community based. These include paediatric sub-specialities: ophthalmology, audiology, cardiology, nephrology (visiting consultant from Nottingham), neurology, dermatology, genetics, endocrinology, ENT, neurosurgery, orthopaedics, general surgery, and child development centre. We are also supported by paediatric radiology and imaging, nuclear medicine, haematology and biochemistry. We liaise closely with the adult metabolic team to provide support during transition from children's services to adult services which usually occurs between 16-18 years of age.

Dr Uma Ramaswami provides a paediatric LSD outreach clinic at the Royal Free Hospital, London.

Patients are closely monitored throughout their lives and attend regular visits to clinics for investigations and assessments, these are carried out six to twelve monthly or more frequent if clinically indicated or should the family request more frequent appointments. 

The Paediatric LSD team also works very closely with patient and family support groups and value greatly their patient and family advocacy support service. 

The Paediatric LSD Team:  

Consultant Metabolic Paediatrician - Dr. Uma Ramaswami
Metabolic Secretary - Janet Fox

Tel: 01223 216878

Fax: 01223 586794

Paediatric Metabolic Clinical Nurse Specialist - Clare Taylor
Tel: 01223 256277

Bleep 154 540

Paediatric Metabolic Clinical Nurse Specialist - Greta Lyons
Tel: 01223 257286

Bleep 152 910

Paediatric Metabolic Clinical Nurse Specialist - Alison Hough
Tel: 01223 257285

Bleep 152 968

Metabolic Dietician - Helena Champion
Tel: 01223 216790

Paediatric SpR (Metabolic)

Tel: 01223 245151

Bleep:154 287

Paediatric Metabolic Unit
Children's Services
Box 181
Addenbrookes Hospital
Hills Road
Cambridge
CB2 0QQ