The full story of Sam's diagnosis written by his mother Julie.
We are fast approaching Christmas and I am looking forward to it, with excitement and anticipation. It's a magical time of year for myself, my husband Steve and the children in our family, William, Emily and Megan, Steve's children from his first marriage to Pam, and Samuel and Ellen our two children together.
Last Christmas, however, was not such a magical time. It was fraught with worry and fear for our little boy Sam. The story begins around the time of September 2001.
Sam was always such a good child, very quiet, slept a lot and was generally very low maintenance as kids go, he was a joy and so unbelievably beautiful. OK I'm biased but he was and still is gorgeous. Sam has always been petite, but as he was approaching three years of age Steve and I noticed that although Sam was one of the oldest children in his group at nursery, he was also the smallest. This didn't particularly worry us, but along with the enlarged tummy he had and the rash he had developed, we decided to take him to the Doctor's for an opinion as he really did appear to have stopped growing and gaining weight altogether.
The appointment was made for some time in October and Steve and I both believed Dr Hailwood would tell us not to worry and Sam would catch up as all kids grow at a different rate, but he didn't.
Dr Hailwood examined Sam's tummy, looked at his rash and agreed that he was very small and thin, added that he was also rather pale and suggested that a member of the paediatric team should have a look at Sam just to see if there was anything amiss.
Dr Hailwood sent in a routine letter of referral and told us not to worry and advised us the appointments usually came through about three weeks after the referrals were received. Sam's hospital appointment was on the 28th November and Steve and I still were still not overly concerned at this point.
In fact I went to this appointment alone with Sam, but we were glad to be getting things checked out, again I think we wanted the reassurance that Sam was OK, small yes, but still OK. The paediatric outpatient department was lovely, very bright and the waiting room was full of toys and Sam played happily until it was his turn and I still felt there was nothing to worry about.
When Sam was called, we were greeted by a lovely doctor, very friendly. He immediately made me feel at ease and he began by asking me questions about Sam's general condition and when we had begun to notice him falling behind in growth. He then asked Sam if he could examine his tummy, Sam was only too happy to oblige, and he spent quite some time feeling his tummy and he looked at Sam's rash.
When he had finished he allowed Sam to carry on playing and he sat close to me and explained that Sam's spleen was massively enlarged, his liver was also enlarged, but only slightly and the rash was caused by bleeding under his skin.
It was at this point that I started to realise that Sam was not simply a small child and we may be dealing with some medical problem after all, I just had no idea how serious a problem it was. The doctor continued with his questions and went through some family details and also asked how Sam was developing mentally, whether he was keeping up with his peers at nursery. This frightened me, but Sam had no problems mentally whatsoever, so I answered the questions and just wished I could take my little boy home and everything would be all right.
The doctor told me there are very few things that could cause such a massive enlargement of the spleen together with a slight enlargement of the liver. He said he felt we were dealing with some type of blood disorder or storage disease, I felt even more worried by this point, but I still had no idea of the enormity of what we dealing with. The doctor wanted Sam to go for a chest X ray while we were there, then we could leave, as he wanted to get together with some of the other paediatricians and discuss his findings, and we were to return two days later on the Friday for a blood test.
We went up to X ray, had the X ray taken and went home. My husband Steve is a dentist and therefore, has a much better knowledge than I do of medicine and medical conditions. When I reported the day's events and the doctor's findings, Steve knew immediately that we were dealing with something serious.
That evening Steve brought out his pathology books he had used as a student, but we were horrified to discover that Sam's symptoms were absolutely typical of those of a child with leukaemia. I cannot find words to describe the awful feeling of dread. Leukaemia kills children and Sam had it, or so we thought. We were devastated and so sure of our diagnosis that we warned our families, (except for Steve's parents who were enjoying the holiday of a lifetime in Australia) so they could be prepared for what we were all about to be faced with.
The next day and evening were almost unbearable I felt trapped in time. I didn't want to be in my life. I wanted to escape. I wanted this to be happening to someone else. Not us. Not Sam. We got through Thursday and set off to the hospital on Friday morning. Steve was with us this time. On arrival we were taken through to a treatment room where the doctor we had seen on Wednesday was waiting. He took a blood sample and we were sent to one of the children's wards to wait.
The doctor arranged for Sam to have an ultrasound scan of his spleen and liver. The scan showed nothing and we waited to receive the news that we were dreading, that our beautiful little boy had leukaemia. That meant he could die. We could lose our Sam.
After an awfully long time the doctor came with Sam's blood test results. He didn't say anything. He just handed the sheet of paper to Steve. Steve looked at it and said, "his white blood count is normal". There was no way it could be leukaemia We were told we could take Sam home, but we had to return the following Tuesday, which was the 4th December, to see the consultant paediatrician, and for further tests as although Sam didn't have leukaemia, there was something causing his enlarged spleen and liver.
We left the hospital happy, optimistic that whatever Sam's problems, they could not be as bad as leukaemia. We were wrong. We got through the weekend, simply killed time until the next hospital visit. We were desperate to get to the bottom of Sam's problems and were relieved when Tuesday morning came and we would get some answers.
The consultant paediatrician was a lovely lady called Heidi Northover. As we walked into her room, she looked uncomfortable with the job in hand. I think at that point both mine and Steve's heart sank. Steve and I sat down and Dr Northover sat, not at her desk, but facing us, very close and she asked us what we knew about storage disorders. This was not good. We had read up briefly on storage disorders in Steve's pathology books. The information had basically been that storage disorders were untreatable and terminal.
Dr Northover told us that the paediatric team had got together to discuss Sam and she had consulted the metabolic team at Pendlebury Children's Hospital and from Sam's symptoms, the most likely diagnosis was Gaucher's Disease, which fortunately, was treatable. She went on to tell us that it was a very rare condition and Steve and I both carried a defective gene responsible for Gaucher's Disease and Sam had inherited a defective gene from both of us and therefore had the disease.
This was too much to take in, not only did our child have a rare metabolic disorder, but we had given it to him. Neither of us at this point could fight back our tears any longer. Dr Northover went on to tell us about treating the disease and how, because of the mutations on a certain gene, it meant that sufferers could not genetically produce sufficient levels of a certain enzyme necessary in the recycling process of red blood cells
. Because his body couldn't break down these cells it simply stored them wherever it could, in his spleen, liver, bones and in some cases of Gaucher Disease, the brain, although in Sam's case, it looked unlikely that he had any brain involvement. She went on to tell us how scientists had isolated the enzyme that Gaucher patients were deficient in and could produce the enzyme for treatment of the disease, but Sam would need fortnightly intravenous infusions for the rest of his life.
Dr Northover needed more blood to send to the genetic unit at Pendlebury Hospital, so the diagnosis could be confirmed in order for Sam to start treatment. So a nurse came and applied "emla" cream to Sam's arm to ease the pain of the blood test and we were taken to a quiet room and given a cup of tea to help us take on board the enormity of what was happening to us.
This sort of thing didn't happen to people like us. Sat in the room we were so frightened, we couldn't stop crying and Sam asked us what was wrong and said "don't cry". He gave us tissues, but that made it even harder. After about forty minutes we were asked to go back through and Dr Northover took some blood, this hurt Sam, but Steve and I had to hold him down while he cried "Mummy it's hurting, Mummy it's sharp".
We both felt so helpless. We should be able to protect our baby, but we couldn't. Steve and I were told the results of the blood test would take about two weeks, but once the diagnosis was confirmed, Sam would be able to start enzyme replacement therapy almost immediately. That weekend Steve and I used the internet to gain as much information as we could about Gaucher Disease, the way it affected sufferers and their families and how enzyme therapy had greatly reduced the suffering caused by the disease.
There was also information on how bone marrow transplants had been successful in curing the disease, although this was not usually the treatment of choice. We felt a little better, knowing that even though Sam had a rare metabolic disorder, we were very fortunate that there was a very effective treatment that meant he would be able to lead a relatively normal life.
Steve and I returned to work the following week (I work with Steve as his nurse) to try to resume some level of normality, not only for ourselves, but also for the children. We began to come to terms with Sam's illness and looked forward to having a confirmed diagnosis so that he could begin treatment. On the Friday of that week I didn't go to work and Steve was due home at around 1.30pm. I was aware, when I heard his key in the door that it was only about 12.15pm.
When I saw Steve his eyes looked red and as his eyes met mine his face crumpled. I felt the panic in the pit of my stomach and I knew Steve had heard from the hospital. "What, what is it?" I pleaded with him to tell me and between his sobs, Steve said, "he's got the enzyme". I didn't understand, "what does that mean?" I asked. "It means, he can't have the treatment. It wouldn't work".
It was then that our world fell apart. If Sam couldn't have enzyme replacement therapy, then we couldn't stop his disease. There was no hope. I felt at that point that our beautiful little boy was going to die. Sam's blood test had revealed that he had normal levels of glucocerebrosidase, the enzyme that he should have been deficient in and therefore, there would be no point giving him the enzyme.
This news was not something that we had considered. We were devastated. Sam's blood test results had surprised the Doctors and we given an appointment to see a haematologist and metabolic consultant at Pendlebury Children's Hospital for further tests, as we still needed confirmation of Gaucher's Disease. We were told to go the Borchart Clinic on the following Wednesday, which was the 13th December.
Steve's parents arrived home from Australia on the Saturday evening. Steve spoke to his mum on the telephone and explained the situation. We asked them if they would come to stay with us, as we really needed our parents' help to get through this terrible time. Steve's parents came to us on the Monday morning to find us wrapping the children's Christmas presents. We didn't know at this point whether we would be spending Christmas at home, or at the hospital or indeed, if we would even have Sam at Christmas.
Sam's appointment was at 10.00am and it seemed to take forever to get through the days. Eventually it was time to leave on the Wednesday and we loaded our little boy into the car and set off. Sam fell asleep on the way and when I looked at him, it struck me, how pale and tiny he looked. When we arrived at Pendlebury, we quickly found the signs directing us to the Borchart Clinic. It was situated at the end of the main corridor. There were Christmas trees and decorations in the corridor, but it didn't feel like Christmas to me.
As we approached the entrance to the clinic we realised it was the bone marrow transplant unit and again, Steve and I feared the worst. Sam had been referred to the Consultant Paediatric Haematologist, Dr Stevens. Dr Stevens was a lovely man and introduced himself as Dick Stevens. He examined Sam and told us that after discussing Sam with the Metabolic Consultant, it was felt that a bone marrow biopsy was necessary to confirm his illness. We were also told that a full thickness skin biopsy would be taken. This was so Sam's skin could be grown and used for further testing. Dr Stevens left us to tell the Metabolic Consultant we were there.
After 5 or 10 minutes Dr Ed Wraith, the Metabolic Consultant breezed into the room, stuck out his hand and introduced himself, "I'm Ed Wraith". He had a long grey ponytail, a three quarter length black leather coat and Timberland boots. He didn't look like a stereotypical consultant but we knew, from the information on the internet, that Ed Wraith was one of the two leading childrens' Metabolic Specialists, in the country. The other one was based at Great Ormond Street Hospital.
Right behind him was the unit's Clinical Nurse Specialist, and she introduced herself as Gill Moss. She then said "Steve. It's Gill. Gill Moss. Ian's wife". Steve couldn't believe it; he used to go out drinking with Ian when he first moved to the area from Leeds. It was so nice to have someone that Steve knew dealing with us.
Ed explained to us that Sam's biopsy would be carried out the next day and he and Dr Stevens both expected the biopsy to confirm Gaucher Disease. He added that as Sam's blood result had shown normal levels of glucocerebrosidase, there would not be any treatment available for Sam and his symptoms would be monitored and painful episodes would be dealt with as and when they occurred. Steve and I both knew this was not good news. We had learned, from the internet, that the symptoms of untreated Gaucher Disease included, anaemia, bone pain, fatigue, enlarged organs and failing to thrive.
Sam was already displaying a number of these symptoms and he was only three. It could only get worse. Steve and I also had another worry. Sam's younger sister Ellen had a 25 per cent chance of also having the disease. Ed said he would refer Ellen back to Dr Northover for a blood test. I think Gill must have seen the desperation on our faces and she said, "I'll sort it". She told us to bring Ellen in with Sam the following morning and she would take blood from her.
We were incredibly grateful. We were taken to the surgical ward, where a bed was booked for Sam, instructed not to feed Sam after 3.00am and were allowed home. Sam slept in bed with Steve and me; we wanted to spend as much time as we could with him. The two of us didn't sleep well. Sam's snoring was incredibly loud, this was due to the soft tissues in his throat being swollen, another symptom of his disease.
When it was finally the time to get up we got the children bathed and dressed and left for the hospital. Steve's parents were to follow us there, and then they could take Ellen home after her blood test. We arrived at the ward at 8.30am and were taken to Sam's bed. At around 9.00am Gill arrived to take Ellen's blood. Ellen didn't have any "emla" cream and she wasn't very impressed at being pinned down and stabbed with a needle, she fussed and squirmed, but Gill got her blood.
After her ordeal, Ellen was taken home by her Nanny and Grandpa. Sam was very happy on the ward and enjoyed racing up and down and playing with the toys. He didn't have a time to go to theatre, but was to be slotted in when time was available. We were informed that this would be around midday.
Sam got tired of running around after a while and we dressed him in his gown ready for theatre. It didn't take long for Sam to fall asleep and he was asleep when the porter came to collect him. I went to the operating theatre with Sam and Steve had warned me that it might be very upsetting when Sam was given his anaesthetic, as children usually put up a fight. When the anaesthetist, Dr Dearlove, came to give Sam his anaesthetic, he simply placed the mask in front of Sam's nose and allowed him to breathe in, he then placed the mask on Sam's face to anaesthetise him and Sam didn't even stir. No fighting, no trauma, I was relieved.
I had to leave immediately and went back to the ward. Sam was back in very little time, we had been informed that it was a very quick procedure, it was so nice to get him back and see that he was all right. At about 1.30 Gill marched on to the ward "your daughter is fine", she announced with a big grin. Ellen's blood test results had been rushed through and they showed that she did not have Gaucher Disease.
To say Steve and I were relieved would be something of an understatement, but we were still incredibly worried about out little Sam. Gill told us she would be back later with Ed. Sam came around form his anaesthetic in record time and was soon enjoying a drink and yoghurt. Dick Stevens was the next doctor who came to see us. He had looked at the bone marrow taken from Sam and had been very surprised to find no evidence of storage cells in it. He told us that it was usually found and this result was most unexpected, he told us, however, that a small amount of bone had also been taken and that was to be sent for histology, but the results from the bone would not be immediate.
Sam recovered very well from the anaesthetic and we were allowed home later that day Steve and I were disappointed that we still didn't have a confirmed diagnosis, but we were also hopeful that the doctors had got it terribly wrong and it wasn't Gaucher Disease after all, something that was treatable, curable.
That weekend, William, Emily and Megan were staying with us. It was very difficult trying to carry on as normal. We had promised to take the children to the cinema to watch Harry Potter. I wanted desperately for Sam to come too. I wanted him to be with Steve and me, but mostly because he had never been to the cinema. We didn't know for sure if he would have the chance again.
My mum came to look after Ellen, but when it was time to go Sam was very sleepy. He wanted to stay with his Grandma. We agreed it was better for him if he did stay at home, so not wanting to let down Steve and the other children I went along too. I started to wish I had stayed at home the second we were in the car. I was overcome by an incredible panic and I pictured Sam's pale and tired little face. He had looked so frail and I was afraid something awful would happen while we weren't there. I cried my way through Harry Potter and had to phone my mum to make sure Sam was OK. Of course he was fine and still fast asleep but it didn't make me feel any better. I couldn't wait to get home to see for myself. Gill phoned Steve at work on Monday.
The results of the bone marrow biopsy had been inconclusive as far as Dick Stevens and Ed Wraith could see, so it was decided that Sam needed further tests to see if anything could be detected. Steve and I were to collect all Sam's urine for 24 hours, quite a task, but we enlisted the help of the wonderful nanny we employed to care for our children while we were at work, Vicky was only too happy to help.
Sam was also to have a CT scan, full body X-rays and an ultrasound scan. These tests were to be carried out on the 20th December. We faced yet another agonising wait, not knowing what was wrong with Sam, but with the awful knowledge that whatever it was, it was very serious.
The following Tuesday was Emily and Megan's school Christmas concert and after the cinema, I decided to stay at home with Sam. The thought of going was too much to bear, Steve and I didn't know if Sam would ever have a Christmas concert, or even a first day of school. The pain was overwhelming. It hurt physically as well as mentally; it was so hard to deal with. I'm not sure how we did.
The following Sunday, Emily and Megan were participating in a Carol Service at the church. Steve and I decided we would go and take Sam and Ellen with us. My Mum also came to help with the children. Sam fell asleep almost as soon as we had arrived and when people went to take Holy Communion, Steve took Sam to the vicar to be blessed. We needed all the help we could get. In fact we needed a miracle. The 20th arrived; we applied "emla" cream to the usual places, the crooks of Sam's arms (on the inside of his elbows) and also on the back of his hands.
Sam should have been getting used to the needles by now, but it was still very distressing for all involved, even Gill found it stressful. We had our container of urine, we had not missed a single drop in twenty-four hours and we set off on the now familiar journey to Pendlebury Children's Hospital. We were to go to Ashby Ward and had been forewarned that we would see some very sick children. The ward treated a variety of conditions. There were two beds for children with metabolic disorders, a number of beds for children who had suffered brain injury and also beds for children with cancer.
Seeing the children on that ward reinforced our fear that Sam was seriously ill. Gill didn't take long to appear. It was always very comforting to see her and we felt in very good hands. She had to place a cannula into Sam's arm as he would have a radioactive dye injected into a vein for the scan, this as always, was incredibly hard for Steve and me. Sam hated it and we had to hold him still. He knew by now what was coming, but Gill as always, got into a vein first try and we were grateful for that. Sam also had to drink a sedative, he needed to be totally still for the scan and Gill had brought it mixed with black currant juice.
Sam dealt with all his experiences with humour and acceptance, he didn't bear any grudges just seemed to get on with it. He took his sedative as he played in the vast playroom attached to the ward. As his sedative began to take effect, Sam decided he would rather watch a video from the comfort of his bed. It wasn't long until he was fast asleep, a nurse brought a pushchair and we were taken to the scan department.
We didn't have to wait; we were taken straight in for the CT scan. The scanner was huge and we were to lay Sam as straight as we could for the scan. Every time we placed him on the scanner, Sam moved, bending his legs or rolling onto his side. The more we tried to put him straight, the more he moved and eventually he began to wake. As we tried desperately to lay him in a straight line he started trying to sit up, he sat up and announced "I want a yoghurt"!
Steve and I looked at each other and the other people in the room, the nurse who had brought us from Ashby Ward, the nurses who operated the scanner and the doctor who was waiting to inject the radioactive dye into Sam's cannula. We knew if Sam wasn't still, then the scan would not be done. Sam then started to sing 'Bob the Builder' at the top it his voice. It was slurred because of his sedative, he sounded drunk and he was laughing.
It was funny and it lightened a very dark moment, but we had to do the scan. Sam's sedative had to be topped up. The nurse had come prepared, she had brought a different type of sedative, this one was placed in Sam's bottom and after a much more slurred version of 'Bob the Builder', it had the desired effect and Sam was snoring away and very, very still.
The dye was injected, the scan was taken he was then taken over the corridor to X-ray. Sam was totally out of it by this time, we could have done anything to him and he would have slept through it. The X-rays were done in no time at all and we went back to the ward. Gill arrived minutes after us and took us back up to the scan department for an ultrasound scan of his liver and spleen.
Again, we were straight in and the Consultant Radiographer did the scan. This showed nothing unusual, apart from his very large spleen and liver, which we already knew about, but the scan showed that both organs were functioning normally. Once that was over, we could return to the ward and allow Sam to sleep off his sedative. Gill left us and told us, she and Ed would come to speak to us when they had some results.
It was a while, but Ed, Gill and another doctor from the metabolic unit came onto the ward. We were asked to go into a small room attached to the ward just by Sam's bed. Sam was still fast asleep so we left him in his pushchair and as we entered the room Steve and I both feared the worst. We were asked to sit down and Ed began by telling us they were no wiser. Relief and disbelief swept over me as Ed went on to explain how the urine tests were clear, nothing obvious had shown up on the CT scan and the ultrasound had also shown nothing. Put together with the fact that no evidence of storage cells had so far been seen, Ed said we were being placed under the care of the oncologists, as it looked more likely now, that Sam had some type of cancer and not a storage disease.
This was a bitter sweet pill. We were relieved Sam didn't have a storage disease, but cancer, also kills children. Ed told us there was no evidence of aggressive cancer or tumours of any kind and if it proved to be a cancer, it was likely to be treatable. He also told us that if it did turn out to be a cancer, we were better dealing with that, as opposed to a storage disease without any treatment.
This statement made us feel better about what we may be facing. Ed told us that someone from the oncology department would come to see us about more tests for Sam. We said our thanks and goodbyes to the metabolic team as they got up to leave and thought that would be the last time we were to see them. Very soon after, as promised, an oncologist came to speak to us. It seemed that Sam could have a discreet cancer of the liver, where large cells accumulated in the liver and if it proved to be this, it would initially be treated with steroids.
The oncologist told us that treatment of this cancer was usually very successful. We felt much better by now it looked like there was hope for Sam. The oncologist told us that in order to ascertain exactly what was going on in Sam's liver, a liver biopsy was necessary. The operating theatres were closed, except for emergencies, over the Christmas period and we were to return on the 2nd January to book Sam onto a ward. T
he biopsy would be taken the next day. I was devastated that we had to wait until after Christmas. Steve was more philosophical and convinced me it was for the best. We left the hospital, with Sam still sleeping soundly and went home for Christmas, hoping the New Year would bring better news. Christmas, we were determined, would be enjoyable for the children. Steve and I always had all five children on Christmas Day. We had filled the sitting room with all the presents and it was wonderful to see all the children happy and excited. I wondered what the next Christmas would be like.
We made the best of it, but again, Steve and I both found it so hard, we were in limbo, things were so uncertain and we couldn't hide our worry. We trudged our way through the hours, through the days and through the night, the time we most often would cling to each other and sob uncontrollably. We had tried to be strong for each other at first, but found it difficult by now.
The relief was enormous when the 2nd January finally arrived. Sam was to be booked onto the surgical ward at 1.00pm. It was about 12.00pm and we were ready to go. My mum had come to look after Ellen. I had packed an overnight bag for Sam and me, just in case we had to stay, and Steve was de icing the car. It was a beautiful day, but very cold. As we were leaving the telephone rang. I felt sick. I knew it was the hospital.
Steve picked up the phone and I could tell by his side of the conversation that we were not going to the hospital. I sat down, I felt weak and I waited for the conversation to end. When Steve had put down the phone he said, "We're not going". I couldn't believe it. I wanted Sam to have the biopsy. I wanted to know what was wrong with him. "There is no point doing the biopsy. They have found storage cells". Steve cried as he told me. Gill had asked Steve where we were up to and when Steve had told her about the biopsy, she had advised him that we were back under the care of the Willink Metabolic Unit and Ed Wraith.
She went on to tell Steve that storage cells had been found in the small piece of bone taken with the bone marrow biopsy. This meant that Sam had a confirmed diagnosis of Gaucher Disease, but still no treatment. I felt now that I just couldn't take any more of this. I was sure now that we were going to lose Sam. Ed had told us that metabolic disease without any treatment was not where we wanted to be and that was exactly where we were.
We were in a state of shock. It was just too awful and we had not been prepared for the news. Ed phoned not long after, he advised Steve that although it may not be curative, he was sure some form of treatment would be available for Sam, but we knew it would just be pain relief. The future now didn't look good. Sam already had severe symptoms of Gaucher Disease and these could only get worse. He would suffer from weak bones, due to the build up of storage cells and fractures would occur much more easily in Sam than in a healthy child. He wouldn't be able to participate in sports or anything too physical because of the risk. His spleen and liver would just keep getting bigger and he would be at risk from rupturing his spleen. He would be anaemic; his platelet count was already very low. He would suffer from fatigue and fall behind when he started school (if he got that far) and his growth would be affected. Steve and I cried, we both felt that now, there was no hope. No chance of a miracle, no chance of a mistake, Sam had Gaucher Disease and there wasn't any treatment that would help him.
Steve and I returned to work the next day. It was pointless sitting at home, we just got in Vicky's way and we didn't want Sam and Ellen seeing us in tears all the time. We also needed something else to think about. It was very difficult. Steve's patients' were all wonderful and full of concern, but it was hard to talk about and we spent a lot of the time in tears.
Gill contacted us that week and told us that as Sam had normal levels of glucocerebrosidase, Ed thought that Sam could have a very rare variation of the disease. She explained that instead of being deficient in the enzyme, it had been seen, in only three other cases ever, where the patient was actually deficient in an activator protein, which makes the enzyme work. It was still untreatable, but if it proved to be the case, there was a chance we would have to take Sam to Chicago, to see the only Metabolic Consultant, who had seen this variation of the disease before.
It was overwhelming. Neither of us could believe our little boy could be one of only four cases ever, in the world. Gill told us that in order to confirm this, Sam would need another blood test. This would be sent to Sweden, to the only lab that performed the test and she would come to our house to take the blood on the following Wednesday. She also told us that it had been arranged for Sam to have his eyes checked at the Manchester Eye Hospital.
His appointment was for the following Monday morning. This was to make sure that his illness did not involve his brain as some types of Gaucher Disease did. Things were just about as bad as they could be. If I could have curled up and died I would have and I know Steve felt the same, but we had four other children to consider as well as Sam and he needed us more than ever.
Sam's eye test went well. He did everything he was asked to do and the test revealed no abnormalities whatsoever. Brain involvement would be picked up, in its very earliest stages with the eye test, but all was normal. What relief we felt. A good result at last.
Gill arrived to take Sam's blood on the Wednesday as promised. She warned us that the lab in Sweden was only open certain days of the week, so we should be prepared for the results of the test to take around two weeks. Gill was very pleased to hear the eye test had gone well and told us she or Ed would be in touch as soon as there was any news. Steve and I carried on as before, working, trying to get on with things, but each time the telephone rang we waited with dread for any news it might bring.
There was now also a level of acceptance. Sam's illness had been confirmed and we had no control over any of the things that happened from now on. As the two week, mark approached, we waited, but heard nothing. We were impatient and Steve phoned Gill to see if any results had been sent to Ed, but they had not. Gill told she would contact the lab and chase things up for us. She was truly wonderful. Nothing was too much trouble for Gill. We were devastated the next time we heard from Gill.
She had telephoned the lab regarding Sam's results to be told that due to the test being very complicated and costly it was done in batches of about four. Sam's blood sample had just missed one batch and was still in a refrigerator waiting for other samples, before it would be tested. We couldn't believe it. We had been waiting over two weeks and still nothing. Again we just had to accept it and try to be patient. The next time we were to hear form Ed was the 6 February.
It was about 12.15pm and we were at work. Steve was speaking to his ex wife Pam, on the telephone, when a message came up on the computer screen from reception downstairs. It read 'Mr Eddy from Pendlebury on line one'. Steve literally put the phone down on Pam and picked up line one. This had to be it. The news we were awaiting from Sweden. I tried to read Steve's expression to give me a clue. Steve took a piece of card that was nearby and wrote down three words that changed our lives and our future. He wrote 'enzyme replacement therapy!'
I cried. It was not something we had even dared to dream. Steve also wrote down 'activity in blood but not in skin'. It turned out that the skin sample, taken at the time of Sam's bone marrow biopsy, had reached a size sufficient for testing. This had revealed that there was no enzyme activity at all in his skin and if he were not deficient in the enzyme there would have been. Sam was deficient in glucocerebrosidase. Enzyme therapy should work. This was better than winning the lottery.
This was everything. Enzyme therapy is hugely successful in treating Gaucher Disease, not only does it stop the disease progressing, but it also reverses a lot of the symptoms. Sam would be fine, he would need to go on a drip every two weeks, but that was a small price to pay. Sam would go to school and do the things any other child his age would do. Steve and I were so happy. We couldn't wait to tell everyone. We had an appointment to see Ed two days later on the Friday. His joy with the findings was obvious.
Ed told us that further blood tests had revealed that Sam had a much, reduced level of enzyme activity compared to the initial test and said the initial results could have been inaccurate because Sam had had a viral infection. It all seemed too good to be true, but it was true. Sam would be OK. Ed told us how, because Sam was so young, he would be fitted with a surgical implant which would give us access to a vein, rather than using veins in his arms every time he had an infusion. This implant was called a port-a-cath and it was to be fitted on 1 March.
Gill had ordered Sam's enzyme, a drug called Cerezyme, and he was to have his first infusion, at the Willink Biochemical Genetics Unit, the following Tuesday, it would be the 12th of February, the first day of Sam's new life, a life almost free from the effects of Gaucher Disease. His second infusion would be done after the surgery to fit his port-a-cath. We left the Willink feeling like a huge black cloud had gone from our lives. We could laugh again and look forward to our future, a future with Sam.
That day, 8 February, Monsters Inc. was showing at the cinema. We took Sam to see it, it was a very emotional time and Sam enjoyed it immensely. He sat eating his bucket of popcorn, he wouldn't share with Steve and me and drinking his giant cup of Pepsi. We laughed like we hadn't laughed in months and we smiled from within. Words cannot describe how we felt. I think Steve and I enjoyed the film more than Sam did.
Sam had his first infusion in the waiting room at the Willink. We had gone prepared, with a selection of Bob the Builder videos. The infusion went smoothly, although Sam had now got to know when the needle was coming, but as always Gill was as accurate as ever and accessed a vein on the first attempt. We left after the infusion. The next time Sam would go to Pendlebury, he would be having his surgery.
The difference in Sam was immediate. His energy levels were hugely increased, he became a beautiful pink colour and his rash improved dramatically. There was no doubt in our minds that the treatment was working. For the first time in months the days didn't drag. In no time at all, we were on the now familiar journey to Pendlebury. We booked on to the surgical ward and were informed that Sam was the first patient on the afternoon list and his surgery would be at 2pm.
A nurse came and we mentioned that Sam's platelets were low. We didn't want any problems with his blood clotting as he was having surgery. She advised that a platelet count could be done. We agreed and Sam had blood taken. It wasn't long before the surgeon came to see us to explain the procedure and tell us of the risks. The anaesthetist also came to see Sam, who, at the time was running up and down the ward. He commented that Sam was a bit lively and advised he should have a pre-med (a sedative) before he was taken to theatre. Steve and I both thought this was great.
Our boy had too much energy. Soon the nurse came back, she asked us what Sam's last platelet count had been. We told her it had been about 76. She smiled and told us it was now 140. We were amazed. After only one infusion his platelets had almost doubled. Sam was given his pre-med and as it started to take effect, we were again treated to his slurred and very giggly version of 'Bob the Builder'. This time around it was absolutely hilarious. The same porter came for Sam, we learned his name was Alf, and Sam was taken to theatre.
Again, Sam was an absolute gem. He made most things very easy to deal with. The surgery took about an hour and we were very relieved when Sam was brought back onto the ward. Gill came to give Sam his second infusion and Ed also came to see him. On seeing Sam, Ed commented on how he was a much better colour. Steve told Ed about Sam's latest platelet count and Ed said, "Bloody hell. That's amazing"
. To say he was surprised with the result, after only one infusion, would be an understatement. Sam and I had to stay in hospital that night as he took a while to get over the effect of the anaesthetic. The next morning, a nurse informed me that I could take Sam home. We didn't need to wait for the doctor. I couldn't wait to go and I telephoned Steve and asked him to come for us, that was around 7.30am. Steve was there within the hour and we were on our way home.
We had to return to the Willink for Sam's infusions and it was at these appointments, we met some incredibly special children and their parents. These were children that also suffered from a type of storage disease, as Sam did, but unfortunately, there was no effective treatment for their illness. The type of disease, these children had also involved the brain and they would slowly degenerate over a number of years. They were taking part in trials, for a new type of enzyme therapy that would slow down the progression of their disease if it proved to be successful, but not stop it.
Meeting these children and their parents' was a very humbling experience and we learned that these children had travelled from all over the country. We were lucky to be so close to Pendlebury and so very lucky Sam could be treated effectively. It was only a matter of weeks before we decided to be trained at home, to enable us to do Sam's infusions ourselves.
The training commenced in April and after two months we were able to go it alone. Steve and I now give Sam his enzyme. A precious gift, that gives our beautiful little boy a normal existence. Sam has gone from strength to strength and is a joy to know. It is wonderful to see him run, play, stay up late at night and simply climb a flight of stairs, without asking to be picked up and carried. He has to have regular eye checks and now wears glasses, but still has no signs of any brain involvement with his disease and I'm pleased to say Ed is confident Sam will have no brain involvement.
Steve and I will never take for granted our children, or indeed anything, again. Our experience has taught us that we are not masters of our own destiny, some things we cannot control. We feel very lucky. It is difficult to have a child with a metabolic disorder, but I know that both Steve and I, in fact all of our family members, would rather have Sam with his metabolic disorder than not at all.
Once again Christmas is approaching. One year on and Sam is amazing. It is the 24 November 2003 and life is wonderful. Having a child with Gaucher disease is not totally without it's problems, but I think we are doing ok. It has been a fairly uneventful year compared to a couple of years ago. Generally we just get on with our lives. Sam's infusions come around every two weeks, thankfully. That is getting much easier to deal with and Sam is much more accepting these days.
Our lives are no longer dominated by Sam's illness, but every now and again the fear and pain resurface. I was in the shower just this morning and it dawned on me that on the 28 November, it will be two years since Sam's first hospital appointment. This thought brought it all back and I cried. It reminded me that Sam isn't like other children.
These thoughts don't come too often, but the pain is still raw and I do believe our experience has changed us. I always think of how much worse thinks could be if I feel sad about Sam's condition. I think about the children (and their parents) who do have untreatable illnesses and I am grateful that Sam has Gaucher disease and not some other devastating illness.
Sam is a lucky little boy who loves his life, his brother and sisters and his mum and dad. I am so grateful he has a chance to enjoy life. Thanks to Cerezyme we can look forward, and the fear and pain do, most of the time, remain well tucked away. Steve and Julie's thanks go to everyone at Pendlebury Children's Hospital, especially Ed Wraith, Gill Moss and everyone at the Willink Biochemical Genetics Unit. Our parents and families. Our wonderful nanny Vicky. Our friends, especially Al and Julie Highton. Genzyme and to Samuel George Henry Bate who made us appreciate what is truly important in life.
© Copyright Gauchers Association 2004.