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Neuronopathic Gaucher Disease
Dr Ed Wraith is Consultant Paediatrician at the Royal Manchester Children's Hospital. and he has been Director of the Willink Biochemical Genetics Unit since March 1993. He is also in charge of the Gaucher's Clinic there. Dr Wraith's expertise lies in inborn errors of metabolism and he has a keen interest in research into metabolic disease. The following is a summary of his talk at the Conference on 25 April 1999.
There are two Gaucher's Centres in the UK specialising in children with Gaucher's disease, our Centre at the Willink and one at Great Ormond Street Hospital, London. However both the Centres speak with one voice.
At the Willink, we hold our Clinic downstairs and have a laboratory upstairs. We have 15 biochemists and 3 consultant paediatricians as well as nurses and dieticians. Children cared for as inpatients are taken into one of the childrenµs wards in the main hospital. The Unit is named after Colonel Francis Willink who gave the money to start it.
Between 1993 to 1996, we diagnosed 40 patients with having Gaucher's disease: 28 from the UK and 12 overseas. They range from new-born to 60 years old and 27 are under 16 years old.
At the moment we see 20 children aged from 1-18 years old. Sixteen are Type 1. Four are Type 3 all of whom have the L444P/L444P gene mutations. All the children are receiving Cerezyme and 12 have an in-dwelling device to aid infusions.
Our patients are managed on a share care basis: the majority of time they are seen by their local doctor but they are assessed and managed by us regularly. Ten adults also visit our Centre although all are managed by the Cambridge Centre.
Children are not Small Adults
The health needs of children differ from those of adults. Children are not
small adults. They are immature and vulnerable - this they share with the very
old. They depend on adults and are not able to make their own decisions.
In children, Gaucher's disease tends to be more severe and the time scale is different. There is usually an early acute onset rather than the steady progression seen in adults. There may be more than one child in the family affected and this causes more stresses and strains on the family especially if there are two children aged under 10 years affected.
Children also need attention to other aspects of their lives: they are continually developing, physically, emotionally and cognitively. Schooling and education are important and their emotional needs may be different from their peers.
Philosophy of Care
We have a philosophy of care which has been developed by Lorraine
Burnett, our specialist nurse. We only admit children into hospital as a
last resort. We try and co-ordinate different specialists to minimise the time
spent at the hospital. Investigations such as cardiac, ear, nose and throat and
X-rays are all done on the same day or the day after. A lot of hard work goes
into making this possible. It is a nonsense to admit well children into
hospital as in-patients just for tests. All this can be done at the Clinic as a
day care procedure,
No child likes injections so we try to make access for infusion into a vein as easy and straightforward as possible by using an in-dwelling device. Needle phobia is quite common and can come on quickly. We aim to get home treatment established as quickly as we can.
Some people still go to hospital for infusions; maybe it has not occurred to them to have their infusions at home. It is good to have home treatment. To do this home visits and phone contacts need to be available and accessible.
The educational needs of the children are just as important as their health. The majority of our telephone calls are not on health issues but other aspects affecting the children's lives.
National Paediatric Workshop
In October 1996 Dr Ashok Vellodi from the Great Ormond Street Hospital
Gaucher's Centre and I set out guidelines for the management of children with
Gaucher's disease. This was revised in July 1997 and then again in December
1998. We meet twice a year to discuss issues.
We recommend that all children with Types 1 and 3 should be on therapy and that all dosages and amendments should be prescribed by Dr Vellodi or myself.
Treatment for Type 2 Gaucher's disease is not recommended - there is no evidence that enzyme replacement therapy works for Type 2.
Type 1 We recommend a dose of 60 units per kilogram of weight every two weeks because it is important for children to have less frequent infusions.
It is also important to monitor the children according to our set protocol. We have found that some doctors donµt seem to notice that children grow and their dose falls as their weight increases. In some children their growth may have been inhibited but after treatment they often have a growth spurt.
There should be no reduction in dosage for at least six months when the following is considered:
Type 3
We have increased the dosage to 120 units per kilogram every two weeks as there
is no evidence of enzyme replacement therapy getting into the central nervous
system on less.
A bone marrow transplant should be considered if the child deteriorates, despite this high dose, showing signs of respiratory disease or increased central nervous system symptoms which can be life threatening. How-ever this is a risky procedure with a 15% mortality rate, this means that 1 in 6 children may not survive.
Paediatric Audit 1998
All the children from both the centres were reviewed in detail including what
genetic mutations they had, their level of enzyme replacement therapy and their
clinical, biochemical and radiology responses. We found a number of the
children were doing well and we took no further action. However a few patients
were not fully satisfactory. In their cases, we decided to revise our protocol.
We also decided to scrap a number of investigations that we had been routinely doing. We felt the dosage review every six months was effective.
We hope in the future to find someone, perhaps from overseas, to audit our results.
Problems
Growth Gaucher's disease inhibits growth and some children are very
small. Children grow most in the first year of their life and during
adolescence. It is in adolescence that enzyme replacement therapy can do most
good so the dosage must be right.
Bone disease Many adults begin having bone disease as children. It is important to avoid the problems in adulthood by giving adequate enzyme replacement therapy in childhood and monitoring their bones.
Type 3 children can get spinal complications. Lung disease is also a serious problem but some respiratory problems do respond to steroid treatment.
Many problems to do with Gaucher's disease in children are also seen in adults but don't regard children as small adults. They are a separate group in society.
Neuronopathic Gaucher's News
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Source: Gaucher's News July 1999. © Copyright Gauchers Association 1999.