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Eight million people live in the East European ex-communist country of Bulgaria. Last year the National Gauchers Association of Bulgaria was founded to help five children and three adults already diagnosed with Gaucher disease obtain information and treatment. In April 2001, 45 well-known local artists donated 110 paintings for a charity exhibition to raise money for the Association and the following day a meeting covering the medical and psychological aspects of the disease was held for families and their medical advisers. Susan Lewis attended the meetings in the capital city of Sofia along with Fern Torquati, President of the Italian Gaucher Association and Prof Ari Zimran who heads the Gaucher Clinic in Jerusalem, Israel. Susan reports here:
Kristian lives in Bulgaria and is 12 years old but he looks half his age. His face is yellow and his stomach is grossly enlarged. He benefited from a year's treatment of Ceredase seven years ago and again in 1997.
After each year of treatment, no subsequent funding could be found and his health deteriorated dramatically. His physician Dr Brigitta Radeva says: 'The interruption of his treatment was dangerous and life-threatening.'
Last year he began three months of treatment which was again stopped until February this year when he began once more to receive Cerezyme.
Kristian is one of five children in Bulgaria who desperately needs enzyme replacement therapy to bring back their health and childhood.
He appeared in a Bulgarian television documentary two years ago and began to cry. 'Are you crying because you are frightened of the doctors or because you have no treatment?' asked the interviewer. 'I am crying because I am frightened I will not get the medicine,' he replied.
Kristian's mother revealed she would have been willing to have him adopted abroad if it had meant saving his life: desperate measures for a loving mother to have to contemplate. Kristian would like to become an architect when he grows up.
My visit to Sofia began with a press conference arranged by the Bulgarian Gaucher Association. Two television companies were present as well as ten journalists.
Prof Emil Simeonov who heads the Section of Clinical Genetics at the University Children's Hospital described the typical symptoms of the disease including nose bleeds, excessive tiredness, bone crises and anaemia but he stressed that the children were mentally very alert.
He and his colleague Dr Radeva explained how five children had received enzyme replacement therapy for up to 12 months on two separate occasions but each time this had stopped due to no funding.
They described the struggle with the Government and health authorities and their delight in the fact that these children had now obtained funding and could re-commence treatment.
Five children and three adults have already been diagnosed with Gaucher disease but more are awaiting confirmation of diagnosis. Although the children are now receiving Cerezyme, the adults remain untreated.
Improvement on Treatment
Prof Simeonov then described how Ianko, now 10 years old, had improved on therapy but deteriorated after the treatment had stopped.
Ianko is now the same size as Kristian, still small for his age, and he also displays the same enlarged stomach. His mother said his condition was worse than ever and she hopes that now treatment has restarted, he will quickly improve.
Ianko, bright as a button, took an immense interest in all the proceedings, including taking a front seat at the talk given by Prof Zimran the following day. He wants to be a footballer when he grows up.
Prof Simeonov said that although the treatment was expensive, the Bulgarian government did not refuse to provide other expensive medicines. However he stated that as the drug was now on the list of life saving medicines, he hoped there would be no further interruption in treatment.
Fern Torquati, President of the Italian Gaucher Association, spoke movingly about her own son and how the two boys she had met had looked similar to him. She said: 'I am not here as a representative of the Italian Gaucher Association but as a mother. My son also suffered from an enlarged spleen, nose bleeds and pain.'
She stressed: 'Children suffer pain in silence but are frightened.They need to see the same doctors and nurses who they can learn to know and trust.
'Enzyme replacement therapy is a life long treatment but the cost of the drug is counteracted by a child growing up to lead a healthy and independent life and not being disabled and dependent on the state for support.'
Meeting between Families and Doctors
A meeting between doctors and families was organised so that families could voice their concerns, hear a talk given by Prof Zimran (see page 11 for report), and learn from the experience of sufferers in the UK, Italy and Israel.
Prof Simeonov began by talking about the problems of obtaining a correct diagnosis.
He pointed out that Gaucher disease can be confused with other diseases where enzyme replacement therapy would not work. He said parents often want an immediate diagnosis when their child becomes ill but this is not always possible as the symptoms could be caused by a number of diseases and it was necessary to check if any one disease was responsible.
The fact that younger children could talk about their condition more easily than those in adolescence was discussed. Mrs Torquati said that teenagers don't want to know, and don't want it to be known, that they have Gaucher disease. They don't want to be seen to be different.
Speaking openly in public about a disease could be difficult for families. They might feel vulnerable and may not want to talk about someone amongst them having a genetic condition, even to members of their extended families. Publicity might stigmatise them and cause them distress.
However publicity might help other families know that they are not alone and that there is a treatment.
Prof Zimran pointed out that having Gaucher disease was not as bad as having many other life threatening conditions.
The importance of meeting, preferably annually, was stressed so that families and doctors could meet in an informal and friendly atmosphere
Plamen Zelenkov , Vice Chairman of the Bulgarian Gaucher Association summarised the two days of events by saying: 'Even the children are happy because they know that all this effort has been because of them.'
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Source: Gaucher News September 2001.
© Copyright Gaucher Association 2001