Julie's Story: Our son Sam has Gaucher Disease

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Sam was diagnosed when he was three years old in January 2002. The trauma that his mother Julie and father Steve went through until his diagnosis is told here by Julie.

Sam was three years old when he was diagnosed. I'm not really sure when we started to worry but there came a point when my husband Steve and I felt that Sam slept a little too much (he sometimes would fall asleep over his dinner), was falling behind in his growth, and my mum had expressed a concern as his tummy was very large. He also had very little energy, couldn't even climb the stairs at home and he had developed a pin prick rash.

Our GP examined Sam and decided it would be worth referring him to the hospital. The appointment was three weeks later. We were not too worried at this point and Steve did not come but it quickly became obvious Sam had a serious condition.

Serious Condition

The paediatrician examined Sam and discovered his hugely enlarged spleen and swollen liver. Sam had x-rays and an ultrasound that day but the doctor wanted to get together with other paediatricians to discuss his findings and we were to return two days later, when Sam would have a blood test.

Steve is a dentist and when I told him about Sam's liver and spleen, he looked up causes in old pathology books. The obvious cause was leukaemia and the only other one was something called a storage disease. The latter was simply described as terminal and untreatable (Steve's books are pretty old).

I think that was the point our world fell apart. We returned to the hospital two days later and after a long day, a blood test ruled out leukaemia. We were elated, I thought whatever it was, it would be easier to fix than leukaemia. That day was Friday and we had to return the next Monday to see the consultant paediatrician, Dr Heidi Northover.

Dr Northover told us that she thought Sam had something called Gaucher Disease. She explained that people with the disease were deficient in an enzyme called glucocerebrosidase and although it was incurable, there was a very effective treatment available.

More blood was taken and this would be sent to the Willink Genetic Unit to confirm Gaucher Disease. Steve had a telephone call at work on the Friday of that week that shook us. Sam's blood had shown that he was not deficient in glucocerebrosidase. Enzyme therapy was not an option.

We were to see Dr Ed Wraith the next week and Sam would have a bone marrow and skin biopsy taken, again to try to confirm Gaucher Disease, because although Sam had all the symptoms, with normal amounts of glucocerebrosidase and no evidence yet of Gaucher cells, no one could confirm the diagnosis.

The consultant haematologist took some bone marrow and a small piece of bone, along with a full thickness skin biopsy. He looked at the bone marrow under magnification and was surprised to find no evidence of Gaucher cells. This, along with many other test results, confused the doctors and they thought maybe Sam did not have Gaucher Disease after all.

More Tests It was nearly Christmas and we were to wait until the New Year and return with Sam for a liver biopsy. It was now thought that Sam could possibly have a discreet cancer of his liver. We felt optimistic. Dr Wraith had told us that we were better off with the oncologists than the metabolic team if they could offer no treatment.

The 2nd January arrived and we were about to leave for the hospital when Dr Wraith's nurse, Gill Moss, phoned. Gaucher cells had been found in the piece of bone that had been taken from Sam and we had a confirmed diagnosis.

Because Sam had normal levels of enzyme, it was believed that he lacked the activator protein which makes the enzyme work. This was extremely rare and had only ever been seen in a few cases around the world.

The only way to confirm this was to send blood to a lab in Sweden where the test could be done. These results would take two weeks. We were devastated. If Sam couldn't have treatment, the outlook was not good. He already had severe symptoms and things would only get worse. We feared for our little boy. Two weeks passed. Steve phoned Gill who said she would chase up the results. She later phoned to say that Sam's blood had not been looked at and it may be another two weeks before we had our results. We carried on but I am not sure how.

We were at work on 6 February 2002 (Steve and I work together) when a message came to say that Dr Wraith was on the phone. We were convinced it was about the blood test results. I felt sick. I watched Steve's face as he spoke to Dr Wraith but it was obvious from Steve's side of the conversation, that it was not bad news. Steve took a pen and a card as he was talking and wrote three words that changed our lives: enzyme replacement therapy.

Good News

The skin that had been taken from Sam at the time of his bone marrow biopsy had been grown in a lab and had reached a size sufficient for testing. This had shown that Sam was in fact deficient in glucocerebrosidase and he could be treated.

Dr Wraith felt that because Sam had had a virus at the time of his initial blood test, he had produced more enzyme than he normally would. That day was better than winning the lottery. Sam had his first infusion six days later.

His energy levels increased, his platelets almost doubled and two weeks later, he had a port-a-cath (a devise fitted under his skin to access a vein) to allow for his second infusion. Sam has gone from strength to strength and now is a lively, happy little boy. He started school last September and doing very well.

There was a point we did not know whether he would make it that far. We now do Sam's infusions at home and he deals with them well. We feel lucky to be able to look to our future. Thanks to Cerezyme and the dedication of Dr Wraith and people like him, we have our little boy.

Editor's Note: Julie's story is an abridged version of what she recorded during and after Sam's diagnosis. The full version can be read on the Association's website by clicking here.

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Source: Gauchers News October 2004.
© Copyright Gauchers Association 2004.