UK National Gaucher's Centres: How They Work and Their Link With Your Local Doctor

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Questions and answers about the four national Gaucher Centresm which look after over 270 patients with Gaucher dissease.

If I attend a Gaucher's Centre, how often do I need to visit it?

At your first appointment you will have a full examination and undergo a number of tests to ascertain how severe your Gaucher disease is, whether Cerezyme treatment is likely to benefit you and if you need any other care such as vaccinations or regular antibiotics to avoid infection.

Sometimes you may need tests which will involve staying at the hospital for a day or so (if you live far away) although this is avoided if possible. After the doctor has a full picture of your condition, he or she will want to see you again to fully discuss all aspects and once the management of your condition is satisfactorily established, you will be invited to return regularly so that your progress can be monitored.

Does this apply to Children as well?

Yes: all the questions and answers given here apply equally to children. Children are seen at either one of the two paediatric (children's) Gaucher's Centres at Great Ormond Street Hospital, London or the Royal Manchester Children's Hospital whilst adults are seen at Addenbrooke's Hospital, Cambridge and the Royal Free Hospital, London. Extra clinics are now taking place where a doctor from an adult centre can see patients at a paediatric centre after they have turned 16 years of age.

What are the benefits of going to a Gaucher's Centre?

Without extensive experience and knowledge of Gaucher disease, few doctors no matter how good or kind they are, can advise you fully about the disease. Although your local doctor may be an experienced specialist in his field eg haematology, gastro-enterology, hepatology, rheumatology or orthopaedic surgery, he or she is likely to have seen no other or only a very few people with Gaucher disease whilst the experts at the four Centres see 80% of the known sufferers of the condition in the country. Together they see over 270 patients.

Staff from the Gaucher's Centres attend regular national and international conferences which cover every aspect of Gaucher disease, its treatments and scientific research, and are able to meet other experts on the disease from around the world, including the USA and Europe.

Will the Centre keep my local doctor up to date with my details?

After each visit, the doctor at the Gaucher's Centre will write to your GP and, where you have one, your local hospital doctor so that at all times, your condition and treatment is known by everyone who looks after you. This is known as a shared care protocol which is the system preferred by the Department of Health.

Is the Service free?

If you live in England or Scotland, your care and treatment, including cost of Cerezyme, is paid for by the National Health Service. The Centres receive special funding from the Department of Health which covers all tests and assessments. Your local PCT (Primary Care Trust) covers the cost of the drug and also ancillary equipment, eg saline bags, needles etc. PCTs have recently taken over from local health authorities.

What if I live in Wales or N Ireland?

If you live in Wales or Northern Ireland, the funding to pay for you to be assessed and managed at one of the Gaucher's Centre must be requested by that Centre from your local PCT with the agreement of your local physician who refers you. The Centre will organise this for you.

What happens if I live abroad or in the Eire? You can consult with one of the four Gaucher's centres if you live abroad or in Eire but must pay private consulting and hospital fees.

What if I have to travel a long way to the Centre. Is there help with costs?

People receiving disability allowances or other government benefits, may be able to receive help with travel costs. The specialist nurse at the Centre will be able to advise you.

What if I have an urgent question about my condition?

You will always be able to reach a doctor or specialist nurse at your Gaucher's Centre at short notice. A phone call may be sufficient but if necessary the Centre will arrange a visit for you at short notice. In addition the Centre at Addenbrooke's Hospital operates a Helpline on 01223 216 295 during office hours (discussions are presently taking place to extend this to out of office hours).

The Centre at the Royal Manchester Children's Hospital has its own helpline on 0161 727 2137 between 9am-5pm and out of hours you can ring 0161 794 4696 and ask for the metabolic consultant on call.

What happens if I need a hip operation?

This can be carried out by an orthopaedic surgeon of your choice. The operation can be performed by one of the surgeons at the hospital where you attend the Gaucher's Centre as he or she will already be working with the Gaucher's team and have considerable knowledge of Gaucher disease. Alternatively the operation can be carried out at a local hospital by a orthopaedic surgeon of your choice who can liaise and get advice directly from the Centre which you attend.

What about any other operation?

The same will apply as with a hip operation. You will have a choice, whether or not the operation is directly as a result of your Gaucher disease, eg knee, shoulder or other joint replacement, a splenectomy (which fortunately is rarely performed now) or say a gall bladder removal. However any operation should be carried out with the knowledge of and in consultation with your Gaucher's centre as people with Gaucher disease may be at a greater risk of bleeding and infection may occur which needs to be carefully managed.

I have my Cerezyme infusions at home. What if I cant get the needle in and need urgent help?

If you fail to get the needle in, you should store the already mixed Cerezyme carefully in your fridge. Cerezyme which is already reconstituted with water for injection and diluted into a saline bag should remain active and safe to use for up to 24 hours provided it has been maintained in a chilled state at 2°C to 8°C without access to light and handled using sterile techniques.

You then have a variety of options:

My Gaucher disease isn't that bad. I feel well and don't want to bother anyone. Is it necessary to see a specialist at the Centre?

If you have never consulted a doctor at one of the Centres, it is sensible to be assessed at one even if you are feeling well. Some people don't realise that the tiredness they feel, the bruising or nosebleeds they have, or the bone pain or their arthritis may be caused by their Gaucher disease.

If you have few signs or symptoms of the disease (or even none), the doctor at the Centre may wish to see you less frequently than once every six months although if you suddenly feel unwell, you can return at short notice.

But I don't want to have Cerezyme.

No doctor would wish to force you to do anything you don't want but they will want to evaluate your condition if you have been referred to them and provide you with up-to-date advice. If they believe that Cerezyme may not be of particular benefit to you at this stage, they will discuss with you the reasons why and make plans to keep the matter under review. This is because Gaucher disease does not usually remain static over a period of time and symptoms may get worse.

The doctors will only recommend treatment if they feel on balance that it would be to your benefit but they will respect your wishes either way. Enter into a full debate about this with the doctors if it is of concern to you.

Will I meet others with Gaucher disease at the Centre when I attend?

Usually there will be a few others with Gaucher disease waiting to see the doctor. Mostly you won't realise they have Gaucher disease unless you get into conversation. If you start to chat, you will suddenly realise that you have a lot in common and this can be very comforting. Several patients and families visit regularly on the same day and they say that its like meeting old friends. Details of the Centres are given here.

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Source: Gaucher's News October 2002.
© Copyright Gaucher's Association 2002