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The three Type 3 sessions were attended by a small number of families and medical staff. Dr Ashok Vellodi paediatric consultant in charge of the Gauchers Centre at Great Ormond Street Hospital, gave information and advice at two of the sessions. He manages 17 children with Gauchers disease. Tanya Collin Type 3 representative for the Gauchers Association and mother of a 3 year old little girl with Type 3, facilitated the sessions, and reports:
Dr Vellodi explained the symptoms of Type 3 and how children are diagnosed. Neurological involvement is normally identified by the presence of an eye condition called oculomotor apraxia (limited horizontal eye move-ment). Other signs of neurological involvement are ataxia (unsteadiness) and loss of skills.
Treatment for Type 3 patients involves high doses of Cerezyme/Ceredase at 60 units per kilogram of body weight. If neurological involve-ment presents itself, enzyme therapy levels are doubled and a search for a bone marrow donor is put into place. This level of enzyme therapy is a national guideline for Type 3 Gauchers disease in the UK.
Monitoring of Type 3 patients is carried out with regular development and neuropsychometric testing (for verbal and motor responses), brain stem evoked response tests (these evaluate the hearing pathway in the brain) and MRI scans.
A number of new tests are also being developed.
The only other opportunity for patients with severe Type 3, who do not respond to enzyme replacement therapy, is a bone marrow transplant. However this procedure is very risky and there is no guarantee that the patientµs body will accept the trans-plant. In addition, if a bone marrow transplant is given, the whole spleen has to be removed. If the patient then rejects the transplant, the removal of the spleen in Type 3 patients increases the disease in the brain.
Members of the group asked why it took so long for patients to be diagnosed and in many cases were initially diagnosed as having cancer. Dr Vellodi said that due to the disease being rare, the lack of awareness in the medical profession and the presentation of an enlarged liver and spleen, a diagnosis of cancer was often first given
Another topic highlighted was the involvement of the lungs and how this could be managed. This is a common symptom with Type 3 and oral steroids are prescribed to help. Unfortunately lung involvement does not respond well to enzyme replacement therapy.
The group then discussed some of the neurological issues and how they can affect learning and present difficulties at school.
Dr Vellodi informed the group that the children's development tests are available to educational psychologists to assist with practical issues such as reading and writing with limited horizontal eye movement.
Dr Vellodi ended the session by highlighting the fact that the management of Type 3 patients was difficult and criteria for early diagnosis of neurological involvement should be developed. This would look to ensure that the opportunity of a bone marrow transplant was identified as early as possible to limit any neurological deterioration that could not be reversed by enzyme replacement therapy.
The session started with a motherµs story of how she discovered her daughter, aged 15 months at the time, has Type 3 Gauchers disease. She spoke of how she has slowly come to terms with what has happened, about her struggle to get her daughter diagnosed and how she is slowly building up her life again with her daughter and all her needs; in addition managing life on a day to day basis with going back to her studies which she had to put on hold when her daughter became ill.
Others in the group spoke about their experiences as aunts and grandparents and how they want to help their family cope. They wanted to understand the disease, what it means in practical terms and be supportive when needed.
The difficulties with treatment of enzyme replacement therapy and practical tips on how to minimise distress and anxiety, both in terms of the patients and the parent administering the treatment, were discussed. Hints such as moving the site of where the infusion is administered and letting someone else do the infusions were given.
Many members of the group felt that there was not enough information and advice on practical issues such as schooling and support for learning.
The group was fortunate to contain a number of experienced members who live or work with children or teenagers with Gauchers disease or a disease with similar neurological symptoms.
Practical issues concerning visual impairment were discussed and solutions including the child being statemented (given extra educational help) and the involvement of an occupational therapist were suggested which would ensure that any needs were identified at an early stage in order to minimise any difficulties that would affect their learning.
Dr Vellodi gave a brief explanation of how, if both parents have one copy of the faulty gene, this would result in a one in four chance of having a baby with Gauchers disease.
There is a total of about 100 different mutations but there are only a few common mutations. A total of 60% of non-Jewish sufferers have three of the common mutations and a total of 90% of Jewish sufferers have four of the most common.
When providing genetic counselling, tests look for the four common mutations in the unborn child. If both of the parentsµ mutation can be identified, then carrier detection among their other children is easier. In the past this has been difficult but now with DNA analysis, there is a very reliable indication.
Prenatal diagnosis is offered to sufferers and carriers of the disease.
Two tests can be carried out to identify if the unborn child has any of the common mutations. Both of the tests however carry the risk of miscarriage. The tests cannot provide a 100% yes/no because of the large number of mutations and the procedure is costly.
The group then went on to discuss the decision to have future children, fearing another child with Gauchers disease or some other condition (although the latter was thought unlikely). Fear remained an issue.
Dr Vellodi explained that there is some question over whether or not all brothers and sisters should be tested. Some doctors think they should, others think that testing should only be given if asked for.
The subject of Type 3 patients becoming pregnant was raised and whether or not treatment with enzyme replacement therapy would continue during pregnancy. This was unknown and there were implications with treatment and breast feeding. It was felt however that treatment could cease and the management of patients would be carried out to measure blood plasma and levels of chitotriosidase (an enzyme which is raised in Gauchers disease) which would indicate any changes in the disease.n
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Source: Gauchers News July 1998
© Copyright Gauchers Association 1998