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Israel has about 400 sufferers of Gauchers disease compared with about 170 known sufferers in the UK. However in a small country of only five and a half million inhabitants (there are about 56 million people living in the UK), the percentage of people there with the disease is much higher. Despite this greater burden on the State medical insurance , 88 patients were receiving Ceredase (or Cerezyme) treatment by the end of December 1994. In addition another 13 are due or have started treatment by this summer. Susan Lewis visited Israel in June 1995 and reports.
Dr Ari Zimran runs the Gauchers Clinic at the Shaare Zedek Hospital located on one of the southern hills of Jerusalem. It is here that 275 patients, the majority of Gauchers sufferers in Israel, are looked after. 'The Clinic is like a home,' said Carmit, one of his patients, a beautiful young woman aged 21, who spoke warmly of the care she has received there.
'Gauchers has been part of my life since I was four years old. To start with I had minor bone pain but gradually the bone crises became more severe. I had immense pain. Two years ago after one of these crises, I decided I wanted to do something about it.
'Before then I was afraid to go on to Ceredase. I was also worried how exactly I would be able to get it. I knew I wanted to have the infusions at home. I did not want to have them at the hospital. I would have had to live near the hospital or travel long distances each time. I did not feel like a sick person and wanted to keep away from hospital as much as possible. I wanted to be my own boss, do the infusions in my own room with the TV and telephone nearby. My friends could visit me during the infusions.'
Carmit's persistence paid off. In November 1993 she received her first infusion of Ceredase at the Shaare Zedek Hospital. The subsequent three infusions also took place at the hospital where she was taught how to infuse herself keeping the equipment sterile and preparing the Ceredase. From then on she infused herself once every 3 days at home. In November 1994 she started receiving Cerezyme, the recombinant version of the enzyme replacement therapy, which she in-fuses once a week. Carmit now looks well and happy, in control of her life. She is studying and working part-time.
Dr Zimran also carries out research into Gauchers disease at his Clinic, which includes looking for different mutations of the gene which causes the deficiency of the enzyme glucocerebrosidase.
'It is a very good time for Gauchers patients now.' he said. 'I find the work very rewarding.'
'The Israeli Gauchers Association was formed six years ago,' explained Margalit, Carmit's mother and founder member of the organisation. 'Originally 200 people came to the Tel Aviv meeting, all Gauchers families, but the association was low key until the medicine, Ceredase, came along. Then we had the problem because it was so expensive. Originally the Government would only pay 80%, the remaining 20% had to be found by the family. But now the Government pays the full 100%.
'It is very important for patients and their families to meet.' stressed Margalit. 'There is a need for more information.' Margalit lives in a small village near the border with Lebanon. She, together with Raul a doctor and father of a 12 year old boy with Gauchers (see Raul's story), organise monthly meetings for families living in the North of Israel. 'When we ran our first meeting, nobody thought anyone would turn up. But 20 families came. The meetings are a great success.'
During my stay, Raul invited David and me to one of their support meetings. The proceeding were conducted in Hebrew but fortunately a member was able to provide a simultaneous translation.
The meeting took place late afternoon on a hot Tuesday in the air conditioned community hall of the village where Raul, chairman of the local support group, lived. Raul, his wife Anna, and three children prepared the room, putting plastic chairs in a wide circle and setting out cold drinks and snacks. The temperature outside was 95 degrees. The first person arrived just before 5pm and shortly the representatives of 15 families were seated, many having travelled considerable distances.
Each person introduced themselves and said a little about why they were there. An Ethiopian immigrant spoke about his son who was finally diagnosed as having Gauchers: 'The diagnosis took a long time as some doctors could not believe that an Ethiopian Jew could have Gauchers.' His son then had to wait another two years before obtaining funding for Ceredase treatment.
Dorit, Chairman of the Israeli Association and founder member, spoke about the Newsletter they were producing and hoped that it would reach more sufferers. She also explained the change in the way funding was being granted. 'The committee in charge of treatment has changed and there is now a national committee made up of three doctors knowledgeable about the disease. The Minister of Health is very helpful.
Raul explained that everyone who the national committee accepts will get Ceredase (or Cerezyme). 'The issue now is what is best for the patient,' he said. 'In the past many patients had to go a different route to be able to obtain treatment. Now nearly 100 patients are receiving treatment. Perhaps another 100 will need it in the future.'
Raul pointed out that without Dorit's committed work, they would still be a small group talking about getting treatment. Dorit had argued many cases, some at a very high level.
Some patients complained about their doctors and hospitals. One mother said that a doctor asked her child while being examined 'Are you really sick or is your mother just dragging you around?'. Dorit asked members to write to her about their experiences in hospital so they could be included in the Newsletter.
One man said that only in the last few years had he had symptoms. 'Since starting Ceredase, I look 10 years younger. My doctor was very nice.'
One lady, who suffered from Gauchers disease as well as her sister and brother, complained of the problems of having a portacath fitted. (This is a device inserted under the breast skin with a tube which goes into a vein. It enables enzyme replacement therapy to be infused without having to find a vein each time.) She claimed it had been fitted in the worst place and had made her depressed. It had been very painful although her doctor had said the pain was not caused by it. It was removed 10 months later and she was now infused in her veins. She said that other patients had also complained about their portacaths.
Raul pointed out that there were different types of portacaths and his own son successfully had one. Later Dr Zimran commented that the use of portacaths made a big difference to the quality of life of most of his patients and that the experience heard at the meeting did not reflect the experience in his clinic.
(Only a few children in the UK have portacaths fitted. Although theoretically easier to site a needle for infusion, the technique requires additional procedures and can cause complications.)
The concerns about the disease, its future and its treatment were written on many of the faces of those at the meeting. The support group appeared to give a tremendous amount of help to those who attended. The similarities between the hopes and worries of patients and their families in both Israel and the UK were striking. Raul said: 'Some people need to talk, others just to listen but some people still wish to keep these matters private.
Source: Gauchers News September 1995
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