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'Jon was diagnosed with Gauchers disease at 5 1/2 after having been admitted to hospital unable to walk and in severe pain', writes Gill his mother. 'He had an enlarged spleen and a low platelet count; a bone marrow test showed Gauchers cells. The outlook was grim.'
Gauchers - for a long time that word haunted our lives. Refusing to accept the philosophy of 'no cure', we began to chase glimmers of hope. With patience, attentiveness, listening and reading everything in sight, we watched as one shard of light shone that bit brighter, gaining strength month by month until at last overcoming the final obstacle, doors opened and we ran as fast as we could to bathe ourselves in the brightness: Ceredase. For a long time now, that word has spelt health in Jon's life who is now 11 years old.
The Start of Treatment
9am, 10 January 1992: Jon and I spent the day in our regional hospital in Cumbria undergoing the baseline tests necessary before starting Ceredase treatment. By this time, Jon had had a number of major bone infarcts which had been very painful, distressing and disabilitating, resulting in a loss of mobility for weeks at a time. His spleen had grown bigger and he had a low platelet count which made him bruise easily; sleeping and infections gave him tummyache. It was thought he was about a year away from necessary splenectomy. He had had his nasal vessels cauterised to reduce nosebleeds. I had been giving him multi mineral and vitamin tablets and he had had occasional iron supplements. He had to avoid all contact sports and heavy impact situations.
At 4.10pm that same day, the Senior House Office Neil entered the playroom on the children's ward in Whitehaven, armed with needles, dripstand, monitors and a bag of colourless fluid labelled with Jon's name: Ceredase. By the time his hand had been prepared, I was shaking badly and as the first units of Ceredase entered his body, tears spilt from my eyes and I beat a hasty retreat. Later as other parents sympathised about how they felt when needles were inserted into their children, I tried to explain that what I felt was the emotional relief of having at last started my son on the road back to health. It seemed hard for them, parents, doctors, nurses, to understand the impact of this straightforward medical routine. But I wonder how many of you reading this can empathise with my feelings?
My son Jon had just turned nine and he, true to his nature, placidly accepted what was happening, being intent on when he could eat next. Those early day infusions were well monitored: blood pressure, heart and brain waves. He certainly was 'special' for a while until everyone was satisfied that there were no side effects. In many ways he enjoyed the novelty of being waited on hand and foot.
The initial settling-in to the infusion routine was for my part traumatic and I found it very difficult to cope. Life seemed a series of arrangements: hospital transports, time on the ward, who to look after my younger children aged 1 1/2 and nearly three, teatime, etc, etc. I remember this change to our routine of twice weekly visits to the hospital, each taking four hours, very difficult but surprisingly look back how quickly it all became part of our lives. Thank goodness those early feelings didn't last for ever. Talking about them at the time was the easiest and quickest way of handling things. Getting them out in the open. I remember clearly the relief I felt in talking, just for five minutes, to the ward social worker. So it was that very soon we had come to terms with this, as a part of our new lives.
I can't remember when it was decided to train me to infuse Jon. What I do remember is the instant recoil, rejection and fear that Jon felt and rebelled angrily against. For a short while, it was very personal. I couldn't do it. He wouldn't let me. A doctor or nothing. He didn't trust me. It seemed to me, just when I needed all the support and encouragement to attempt this, I was being undermined and in no uncertain terms! I wonder now with hindsight if Jon was angry with a Mum who now wanted to hurt him?
We talked. I listened. I cajoled. He took about two weeks to come to terms with this new challenge and from then on we started to learn. From the start, we worked as a team. I had to support Jon as he tried to do everything for himself: putting up monitors, driplines, in fact he even had a go at siting a needle into a vein on his foot. Anything he couldn't do on his own, he had to support me and that included siting the needles! Between us we had agreed on a working contract that worked for us: together, we won over the issue of trust.
In June 1992 we started home infusions. We took home the support of the doctor, nurses and importantly our GP. For every infusion I was to be allowed three attempts of siting the needle. After that our GP would try, then the hospital. This failsafe backup has been important to both of us as we knew we had the support should any difficulties arise: to know that made us feel secure.
After Easter in 1993 we went from infusing two to three times a week. Again I experienced the same 'I can't cope with this' hump and the same looking back 'what was all the fuss about?' acceptance. It is not pleasant, not easy, sometimes hurting my son, sometimes failing, but I feel good to be able to help keep him health. For us, home infusions are our best option, given our family and geographic situation. We return to the hospital for an outpatient visit every two months.
Jon's blood platelets and haemoglobin have shown a sustained increase back into a more normal range. His spleen is now hard to find and he has had no major bone infarcts since starting treatment. His growth is following a 'normal' line and he has much more energy and confidence.
For Jon, he is in no doubt: ''I'm a lot stronger and fitter, much better at sport since being on the Ceredase''. Praise indeed from my 11 year old son.
For me, well, I have difficulty in finding the words to express adequately how I feel. Those of you whose lives and loves have been touched by Gauchers and Ceredase may well share my dilemma. To all of you: a toast to life.
Gill's touching story shows how a mother's love and determination to seek out the right treatment for her son helped him back to health. She searched and found help through the RTMDC (Research Trust for Metabolic Diseases in Children, the NGF (National Gaucher Foundation), medical journals and doctors who cared.
Source: Gauchers News February 1994
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