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Fern founded the Italian Gaucher Association in 1992 after travelling to Israel and Holland for information about the disease. Her son, Davide, now 15 years and pictured below, was diagnosed aged eight after many years of difficulties. Fern tells their story:
Davide was always different from his older brother Luca - softer, not as sturdy. He was born by Caesarean section and two days later developed bronchitis. He had to sleep sitting up. From that time I always worried about him, perhaps it was a sixth sense.
When he was two years old, he suffered from pain in his knees. He was also black and blue all over but my doctor said it was normal and I was being fussy. The child was tired climbing the stairs but my doctor said he was a spoilt brat. I even smacked him and told him not to be lazy.
At three years old, his hands, knees and feet swelled up. One day he was so bad, I took him to the hospital. He was kept in for three days of tests and I was told he had an enlarged spleen.
I got no support from my husband's family where I was staying, despite the fact that my brother-in-law is a sur-geon. My mother-in-law said she could not look after my older son, Luca, while I was in hospital with Davide, and after leaving the hospital, the doctor said that I was the meanest mother that ever was for having kept him in hospital since there was nothing wrong with him at all.
Meanwhile Davide was slowly deteriorating. His legs had turned purple and that summer he had glandular fever. My doctor said it was mumps but I called another doctor who took him into hospital again. Later we were sent home and all summer, the doctor came three times a day. Davide got bruises from the slightest knock and my doctor asked if I beat him.
When Davide was eight, he started to complain of back pains. On holiday at the beach, two doctors noticed him and asked to examine him. They said we should return home as he was very ill.
More tests were taken but the doctors argued about his care. The expert who took his enzyme levels and diagnosed Gauchers disease was told by the haematologist not to go near Davide. The haematologist told me there was nothing to worry about, just take out his spleen. Later he said Davide should have a bone marrow transplant, otherwise he would die. We began to think about the idea as Luca, his brother, was compatible and would be suitable in a couple of years.
I was fortunate to have a friend, a neurologist Prof Edwin Kolodny, in America who told me to contact experts in Israel. In 1990 when Davide was nine, I took him to Israel for DNA testing by Prof Mia Horowitz and he was examined by Dr Zimran who said there was an experimental drug which might help Davide but that it was not available to the public since it was still being tested.
However Davide had to have a partial splenectomy. His condition was life threatening and he had difficulties with his circulation. It was also to prepare him for the bone marrow transplant. The operation took four hours and went well. Four-fifths of his spleen was removed and weighed 1.200 kilogram (about 3lbs). A net of pigs tissue was used to seal the remaining spleen. He was in terrible pain and given no painkillers. But he has said subsequently that this pain was not as bad as the bone crisis still to come.
Davide had his first bone crisis when he was ten and a half. He slipped and bumped his knee. He was in terrible pain and could not walk. We lived up four flights of stairs. He had a constant temperature day and night. My doctor said it was rheumatoid arthritis and gave him nothing for the pain. He spent a whole month in bed.
Davide would ask why he had such pain. Had he been bad as a baby for God to do this to him? When I told him, it was not God's fault, he said: 'Then it must be your fault.' We are Catholic and he was due to take holy communion but he refused to take it.
Davide had become a tiny, skinny boy with crooked legs. I had told a school teacher about David's condition and she had gossiped. Other children would not play with him. They said: 'Go away, you are going to die.' He had no friends and after school travelled round town on the bus and went to supermarkets because he was so alone.
Enzyme Replacement Therapy
When Davide was in the hospital with his bone crisis, the doctors said they had written to a hospital in Trieste which was prescribing the enzyme replacement therapy for Gauchers disease but that Trieste had replied that Davide was too ill to be treated there. So Davide would get Ceredase locally but it would take a long time. I was told not to contact other special-ists because if I did, my hospital would not help us in time of need.
I had been informed by a doctor from Pavia (where Davide was to have his bone marrow transplant) that I should contact Dr Bembi in Trieste immed-iately as his was the only hospital authorised to prescribe Ceredase. The doctor also said she was sending another four children there.
So I went with Davide and there I met Dr Bembi. I had become very suspicious and sceptical of doctors but fortunately my fears were unfounded. I had been told Dr Bembi did not want to see me. This was not true and I was shown a letter in which he had said he would be delighted to see Davide.
I was petrified but I left the hospital treating my son and made an official request for Ceredase to my Regional Health Authority, explaining the situation. Davide was transferred to the main hospital and there the doctor said he would be happy to send Davide to Trieste for treatment.
Davide started Ceredase in June 1992 aged 11 years. He had become very sick and was running a temper-ature every day. This was a turning point. He began to feel better. He started to play the piano and attended a music school. He is very gifted.
Now he is a perfectly normal boy of 15. He has girl friends and recently went horse back riding. Dr Bembi said he could choose any sport he wanted.
Illness Affected All Family
Davide's illness has affected all our family. My husband and I separated before the diagnosis. My elder son, Luca, has felt abandoned and feels I have not cared about him since Davide's birth. He hates anything to do with Gauchers disease. Recently I wrote a letter to Luca. Had I tried to convey my feelings by talking to him, he would have interrupted me but he read the letter and put it away. His attitude has changed somewhat; he seems more attentive to me, to the needs of the family. It has been a difficult time for us. My own mother and family live 100 miles away so I often felt alone.
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Source: Gauchers News September 1996
© Copyright Gauchers Association 1996