A Parents' Story: Our Son has Gauchers Disease


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Sharon and Alan's 19 year old son Jamie was diagnosed with Gauchers disease last July. Prior to Jamie's diagnosis, he had been fit and well so the result was a shock to the family. They felt guilty and upset.


Prior to Jamie's diagnosis of Gauchers disease, he had been fit and well so this result was a shock to us all. We had never even heard of the disease but with the help of the Specialist Team at the Royal Free Hospital and the Gauchers Association, we have been offered a wealth of information and a great deal of support.

Jamie first became unwell while working abroad in the USA at Camp America, Georgia, where he was a Sports Counsellor teaching children for a nine week period.

After five weeks, he began complaining to the staff of a strange feeling in his head and generally not feeling well. He was taken into the Camp Infirmary but was finally admitted to Northside Hospital in Atlanta where he underwent numerous blood tests, brain scans (MRI), CT scans and other tests.

It was discovered that he had an enlarged spleen and there was concern about his low blood platelet count which was 60,000. (The average person has 140,000 plus).

Tests

At first, the doctors thought he had contracted Ehrlichia, an infection from a tick (insect) bite but they recommended that he return to England for further tests and that he undergo a bone marrow biopsy for further evaluation. This was carried out at Northwick Park Hospital in London and after one of the longest weeks of our lives waiting for results, it was discovered that he had Gauchers disease.

Jamie's initial reaction was that of anger at us for, as he put it, 'giving him a disease' and a feeling of isolation as this is such a rare disorder.

He had also been told he shouldn't smoke and only drink occasionally. How was he going to cope as a teenager partaking in a University education and social life? Would he be able to live a normal life?

There were such mixed emotions for all of us - feelings of guilt and upset although we were relieved that it was not worse and that it was treatable.

Treatment

Initially, the treatment with Cerezyme was understandably stressful for Jamie, as it was not easy for the nurses to find his veins for the infusions but fortunately as time goes by things have become easier for him and a matter of routine.

At the end of the Summer, Jamie had some exciting news which was the offer of a place at Birmingham University to study Social Policy. He is enjoying the course, not complaining about his head so much any more, has taken up badminton and is having a great social life.

He now has his infusions weekly and says: 'They go right first time now.' He has definitely become more accepting of the situation and is generally more relaxed.


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Source: Gauchers News April 2003.
© Copyright Gauchers Association 2003.