 
 Society for Mucopolysaccharide © 2009
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  Birmingham Children's Hospital
Birmingham Children's HospitalWe currently have over 1500 patients that have various metabolic diseases at Birmingham Children's Hospital and we receive referrals from all across the UK, including those with MPS diseases and other LSD's (Lysosomal Storage Disorders). They are seen within the department for diagnosis, out-patient visits, enzyme replacement therapy (ERT), specialist education, support and follow up. The team provide a family centred service for the diagnosis, treatment and management of all Mucopolysaccharide and related lysosomal storage diseases. This service is a national designated centre for Lysosomal Storage Diseases and provides multidisciplinary clinics, admission for diagnosis, investigations, management including newer investigational treatments and ongoing long term care and assessments which includes palliative care. Multi-disciplinary teamThe team work closely with the family which includes home visits and an extensive multidisciplinary team both hospital and community based. These include various paediatric sub-specialities: including ophthalmology, audiology, cardiology, nephrology, neurology, dermatology, genetics, endocrinology, ENT, neurosurgery, plastic surgery, dental, respiratory, radiology, orthopaedics, general surgery, neuro-surgical and haematology services. We are also supported by our own speech and language therapist, LSD dietitian, psychologist, psychiatrist. Treatments such as enzyme replacement therapy (ERT) are started in hospital and given according to the national guidelines. When it is considered safe and in agreement with the family and all parties concerned, the treatment can continue at home allowing the family to be more independent, giving the child and family a better quality of life, this service is provided by a home care company. ResearchWe are actively involved in research and have our own dedicated Wellcome research facility which is where the MPS IV clinical trial is currently being conducted. Other research projects include non-invasive investigation of brain chemistry in patients with neurometabolic diseases using MRI scanner and development of a method for speedy genetic diagnosis in metabolic disease. The introduction of this method into clinical use will occur in several stages with the first batch of diseases, which includes Niemann Pick type C disease DNA testing will be available in 2010. Working with Patient Support GroupsWe also work very closely with patient and family support groups and value greatly their patient and family advocacy support service. Further InformationFor more information please contact one of the metabolic consultants (Dr Hendriksz, Dr Chakrapani, Dr Vijay and Dr Gissen) on 0121 333 9907/8 or fax 0121 333 9909 Or contact: Nurse Specialists Support Worker
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