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What is Gaucher's disease?
Gaucher's disease is an inherited enzyme-deficiency disorder.
Its symptoms range from mild to severe and can appear at any time,
from infancy to old age. They can include anaemia, fatigue, easy
bruising and a tendency to bleed. An enlarged spleen and liver
can also occur in Gaucher's disease, as well as pain, degeneration
and fractures of the bones. The most common form of Gaucher's
disease (Type 1) affects 1 in 100 000 of the general population,
although it is thought that not all of those who have Gaucher's
disease will have symptoms. Neurological problems occur in the
rarer Type 2 and Type 3 Gaucher's disease.
Gaucher's disease at Addenbrooke's
Addenbrooke's NHS Trust is one of four centres funded by the
UK Department of Health to provide an enhanced management and
advisory service for patients with Gaucher's disease and their
families. In most cases, your local doctor will retain responsibility
and develop a shared care arrangement with one of the designated
specialist centres.
The other centres include:
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Great Ormond Street Hospital for Sick Children
(in London, a service for children, see below),
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The Royal Manchester Children's Hospital
(in Manchester, a service for children, see
below),
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The Royal Free Hospital
(in London, a service mainly for adults, see
below).
The service at Addenbrooke's includes:
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Full clinical assessment of patients with Gaucher's disease;
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Clinical advice on general medical and specialist needs, eg
during pregnancy and surgical procedures;
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Reviews of patients (following their initial assessment), to
ensure optimum management of the disease;
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The emergency admission of patients with Gaucher's disease
for the stabilisation of their condition;
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The Gaucher's National Service Helpline Tel: 01223 216
295 (further information);
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Maintenance of a national register of affected patients.
The Gaucher's Outpatients Clinic at Addenbrooke's
We have an Outpatients Clinic solely for patients with Gaucher's
disease. This is held on Tuesday afternoons at Clinic
12, which is also the Diabetic and Endocrinology Clinic. Clinic
12 is on Level 3 of Outpatients. If you are coming up the
stairs in Outpatients, the Clinic is second on the right; if you
are using the lift in Outpatients, it is second on the left (Getting
to Addenbrooke's; Other
maps).
Before your appointment
You might need to have some investigations (tests) done the
morning before the Tuesday afternoon clinic or on the
previous day (Monday). If needed, overnight accommodation
can be arranged on the Hospital site at Pemberton
House.
If required, the Outpatient Play Service can look after
any young children while you are in clinic; it is preferable if
you book this in advance (more
information).
Finding your way around the Hospital
To get to the Magnetic Resonance Imaging (MRI) Scanning Department
(in F&G block on Level 2) and the wards, follow the signs
to the main concourse and then the signs from there. In the main
concourse, there are many shops,
services and catering outlets, which all patients and visitors
can use.
What happens at Gaucher's Outpatients?
When you arrive at the Gaucher's Disease Outpatients Clinic,
please report to the receptionist, who will confirm your details.
You will then meet the specialist nurse (Katy Posey), who will
record your weight and blood pressure. Your appointment will be
with one of our three consultants (Professor Cox, Dr Schofield
or Dr Deegan). After your appointment, some blood samples will
usually be taken, and you can discuss any problems (or arrangements
for your next appointment) with our specialist nurse.
Remember, this is your opportunity to ask us questions, and we
will all be pleased to help.
We look forward to meeting you in clinic. The Gaucher's team (who
we are)
Other useful information and links:
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Gaucher's Association UK
An association for patients, which provides clinical information,
descriptions of patients' experiences and further links to useful
information. Contact them at: 25 West Cottages, London NW6 1RJ;
Tel: 020 7433 1121 (website;
Living with Gaucher's
disease; Simple
guide to Gaucher's disease by Dr Schofield).
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The Willink Biochemical Genetics
Unit, The Royal Manchester Children's Hospital, Pendlebury,
Manchester M27 4HA; Tel: 0161 727 2137 or 727 2138; Fax: 0161
727 2137; E-mail: Ed@Willink.demon.co.uk
This has a diagnostic laboratory for enzyme diagnosis and studies
of DNA mutations. The Consultant Paediatricians (Dr JE Wraith
and Dr JH Walter) specialise in the diagnosis and treatment
of inherited metabolic disease in infancy and childhood. Sister
Gill Moss is the Clinical Nurse Specialist Tel: 0161 727 2147.
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Dr A Vellodi, Consultant Paediatrician (he
has a specialist interest in Gaucher's disease), Great Ormond
Street Hospital for Sick Children NHS Trust (research
website), Great Ormond Street, London WC1N 3JH UK; Tel:
020 7405 9200; Fax: 020 7813 8258; E-mail: a.vellodi@ich.ucl.ac.uk
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Dr AB Mehta, Consultant Haematologist
(responsible for the care of Gaucher's patients), The Royal
Free Hospital (website),
Department of Medicine, Pond Street, London NW3 2QG;
Tel: 020 7794 0500 extension 4608; Fax: 020 7830 2313. Clinical
Nurse Specialist: Sister Linda Richfield Tel: 020 7830 2709.
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Gaucher Disease Treatment Program at Harvard/Massachusetts
General Hospital (website)
Useful US and international links and information (including
about the National
Gaucher Foundation USA, Living
with Gaucher's disease).
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Online Mendelian Inheritance in Man (OMIM):
High-quality clinical and research information on Type
1, Type
2 and Type
3 Gaucher's disease, from Victor McCusick and colleagues
at Johns Hopkins via the US National Centre for Biotechnology
Information (NCBI).
For further information contact: The Gaucher's Disease Clinic,
Specialist Medicine (Box 135), Addenbrooke's Hospital, Hills Road,
Cambridge CB2 0QQ; Tel: 01223 274 634; Fax: 01223 256 172; or the
helpline: 01223 216 295 (during office hours or leave a message
on the answerphone).
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