Alexander's story....

Written by Tracey Cubbage, Mum

I have written an account of my experience of this disease with my son, Alexander. I kept a diary starting when he was first diagnosed until about six months after he left hospital following his Bone Marrow Transplant (BMT). I have included some links in this story to other pages on this site for fuller information. Use the "back" button on your browser to return to this page.

Alex was born on 9th July 1993, my second son. His older brother, Matthew, then nearly three was delighted. During his first months Alex’s weight gain was a little slow and he had continual snuffles; he then got a sticky eye. After several visits to our GP, Alex was thought to have an enlarged liver and spleen. The GP was concerned and said that there could be many causes for this including viral infections, blood disorders etc. My immediate thought was ‘leukaemia’.

We went straight to the Bristol Children’s Hospital. Alex was examined and blood tests done; we waited for the first results. These showed that the white and red blood cell counts were within normal parameters but the platelets were rather low. Nothing was ruled out and Alex was admitted to hospital.

The next day Alex was examined by the on-call oncology consultant. He said he thought it was very unlikely to be leukaemia. Later a medical paediatric consultant examined Alex and said it was most likely to be a viral infection and the snuffles caused by narrow nasal passages. As a precaution Alex had a chest x-ray. Later that day, the oncologist consultant gave a provisional diagnosis of “OSTEOPETROSIS”. We were very lucky that this doctor had seen the condition before. He explained that Alex’s bones were “marbleising” as his bone marrow wasn’t functioning correctly. This was a rare genetic disorder, but which was possibly curable. Alex’s care was to be transferred to a paediatric haematologist.

We cried many tears along with the rest of our family. At that stage we could see only the worst – that our baby was going to die.

When we met the consultant, he told us that the only possible treatment was a bone marrow transplant (BMT). There was a much better chance of success if Matthew was a match and we were told that there was a 25% chance of that. If he wasn't, it was possible we might find an alternative donor, possibly myself or Alex’s father (Chris) or from the national panel of potential donors.

BUT… if the procedure was successful, Alexander should be cured.

We were told that if a transplant wasn’t possible, the disease would progress and Alex would lose his sight and hearing, communication would become very difficult and then impossible.  His brain would become cramped and damaged and he would be unable to fight infections.  This would be because his bones would solidify and he would be unable to produce bone marrow. Without a transplant, he was likely to die before the age of three.

We were stunned at the severity of the condition and the poor chances of a cure. We went home.

Over the following weeks, Alex had many x-rays and blood tests. We all had blood tests to determine HLA typing (whether one of us was a match for the BMT). Matthew was naturally reluctant to have any blood taken, and this was a traumatic experience for him. Being a miserable baby, Alex didn’t co-operate on some occasions, which resulted in some of the x-rays being done twice.

Our lives changed dramatically. To avoid the risk of infection, my circle of friends became smaller and I stopped taking Matthew to the Mother and Toddler group.

Alex had some electrical tests (of his brainwaves) which involved having electrodes stuck to his head at various measured distances, and brain impulses measured in reaction to flashing lights and sounds (to establish his sight and hearing levels).

Blood samples taken from Alex for HLA tests proved to have insufficient cells on two occasions, which delayed the news we were waiting for, but at last I was told that my two children were perfectly matched. This was the best news I had heard for a long time; Alex was over his first hurdle.

Alex’s blood counts began to cause concern and he had a number of transfusions, both red cells and platelets. Some of these had to be carried out over a long period of time – because he was so small – and this meant staying in hospital. I had spent one night in hospital with Matthew when he was small because of croup, but that could never have prepared me for the oncology ward where there were other children with life-threatening illnesses. We became friends with several families and admired the staff who worked with these children.

Matthew and Alex both had x-rays to check that (a) Alex was normally developed and (b) Matthew was fit and well enough to have a general anaesthetic.

Alex had a “long line” fitted. This entailed an operation to insert a narrow tube into one of his veins. This went in through an incision in his neck, and out through the skin of his chest wall (these incisions were small and were stitched and soon healed). On the end were two lines, through which his blood transfusions and drugs could be administered and blood taken without the need to use a needle. Watching Alex “go under” with the anaesthetic was a most horrible experience; however the doctors and nurses were obviously used to parents being upset, and they were very good.

Alex had an allergic reaction to the anaesthetic; he had a rise in temperature and a red rash on his face with very white patches around his eyes, nose and mouth. The next morning his temperature and blood pressure were both raised, but soon settled.

During one of our visits to the hospital, one little boy, Michael, who had leukaemia, spoke to us. We had seen him several times before. He very matter-of-factly said "which one of your boys has leukaemia then?", when I replied "neither", he asked "is it a tumour then?" It was almost as if he were just asking what they had had for breakfast. When I explained it was a problem with Alex's bone marrow and that he had a have a bone marrow transplant, he just shrugged and said “oh”. It was quite a humbling experience and put Alex’s condition into perspective with all the other children we had seen.

Alex became ill, he was lethargic and very tired, his breathing had become very hard and ragged and his chest was pounding. He was admitted to hospital and had various blood tests done. He had raised blood pressure and temperature and was immediately started on intravenous antibiotics. Blood counts revealed Alex was anaemic and neutropenic (his white count contained less than 1.0 neutrophils). His platelets were also low. More transfusions.

Alex was still very tiny, and had never fed well. Now being ill, the dietician came to visit us and arranged to make up his milk with added calories. An NG tube (nasogastric) was put in for feeding as he was too snuffly and weak to feed orally.

Alex was diagnosed with Influenza A and a bacterial infection (E. coli). He was in hospital for 10 days. He pulled out the NG tube, and we started orally feeding him.

We had our taped "transplant chat" with one of the doctors. She was very blunt and to the point. There were major risks with the BMT, it was possible that Alex could die during or soon after the transplant. However she was very positive and gave us lots of information.  She went through the drugs Alex would be given and the possible side effects, and the antidotes given to counteract them. She basically said the drugs would kill his system and the BMT would be his rescue. She outlined what was likely to happen post-transplant. What upset me the most was when she said Alex would probably be rendered infertile because of the drug regime. This seems to be a daft thing to get upset about, as if that is all he has to worry about in 20 years' time, at least he will be here!!

Alex pulled out his long line.

Sometimes Chris stayed in hospital with Alex. I found I could cope with his illness when I was with him but always cried and felt guilty for wanting a break from him whenever I left him.

Alex had an ultrasound scan to ensure the major organs were healthy but this showed that his right kidney was enlarged and blocked and also that his ureter was enlarged. He was injected with some dye before special x-rays were taken showing his bladder and kidneys working. Alex obliged - all over the radiographer! The results showed a definite blockage around the ureter on the right side. Alex had surgery the next week to take a kink out of the ureter and attach it to the bladder in the correct place. (This was seen as incidental and not associated with the osteopetrosis). The second long line was also inserted. Alex’s surgery lasted three hours. When I was allowed to go to the Recovery area, he was wearing an oxygen mask and had two drips – one a maintenance fluid and the other morphine.

The BMT was to be postponed until Alex had recovered and healed.

More blood transfusions.

It was Matthew’s birthday and whilst we spent most of it in hospital, the ward staff really made a fuss of him and he seemed to have a nice day.

The isolation cubicle wasn’t available when Alex had healed. This meant conditioning for the BMT would start on New Year’s Eve. We had mixed feelings – glad to have more time but upset to have it postponed again.

Alex was admitted again with another infection needing IV antibiotics. This time it was sickness and diarrhoea. These were changed following blood results and I was taught how to make up and administer his drugs so that we could go home. He contracted another virus (Rotavirus). BMT was postponed again until he had recovered. More blood transfusions were needed.

We had a wonderful Christmas Day with all the family and Alex (now five months) seemed so well and happy it was difficult to believe that everything was not normal. We were so glad to have a normal happy day to remember, no matter what was in store in the future.

Because of the virus, stool samples had been tested regularly until at last they were clear.  The BMT was booked for January 5th 1994.

WEDNESDAY. START OF CONDITIONING (chemotherapy). DAY minus 9

Alex’s therapy started at 3 pm. The first dose of Busulphan (chemotherapy drug) was given. He had a chest x-ray and nose and throat swabs taken as he still had a cold and cough.  After examining him the doctors decided to begin the treatment. Alex was a bit miserable but was still eating and drinking quite well.

THURSDAY. DAY minus 8

The results of the swab tests revealed that Alex had RSV (bronchiolitis) and the doctors had a long discussion whether to continue. Eventually it was decided to try to contain the virus with a drug called Ribavirin which is given in a nebuliser in an oxygen head box for 18 hours a day for 7 days. Alex didn’t seem to mind the head box and slept quite a lot. The first dose of immunoglobulin was given which is antibodies purified from other people's blood and which helps to fight viruses once the immune system is lowered by the chemotherapy. This is normally given once a week much later into the conditioning. The CAMPATH (antibody treatment which kills Alex's own cells) was delayed.

We were put into semi-isolation and were being barrier nursed. Alex’s blood counts were low so he had another transfusion.

FRIDAY. DAY minus 7

Alex was quite bright. He was happy to be out of the box for a while and seemed a little sleepy. There was quite a large increase in his weight from yesterday and it was thought he may have been overloaded with fluid. A fluid balance chart was prepared and his nappies had to be weighed.

SATURDAY. DAY minus 6

The doctors decided to start the CAMPATH. He was first given "cover" to try to prevent allergic reactions (including piriton, hydrocortisone, pethidine and paracetamol). The first dose had to be given over 8 hours to minimize any allergic reactions (such as sickness, blotchy rashes, fever, dizziness etc). Alex only suffered a small rise in temperature and everyone seemed pleased and surprised that this was the only reaction.

SUNDAY. DAY minus 5

Alex had a transfusion of platelets. He was not interested in food or milk but the doctor thought he was getting sufficient fluid through the drips. They said if he didn’t eat for more than a day they would start his TPN (Total Parenteral Nutrition or intravenous feeding). By lunchtime he was a little more alert. He was still in the head box on the ribavirin and that, combined with the chemotherapy drugs, made him sleepy. He was a bit grizzly most of the day and his temperature was raised. We were now to use gloves and wear an apron when changing his nappy so as not to be affected by the drugs.

MONDAY. DAY minus 4

A further transfusion of platelets. He was now having "cover" with all blood products to minimize any allergic reaction as his count and immunities were being wiped out. The doctors told us that Matthew was the same blood group as Alex (A+) which meant there was less need to interfere with the stem cells and they should be healthier and more of them – at least I think this is what the doctors were saying! Additionally the red blood cells could be retained and Alex would also receive a blood transfusion. The doctors said it made them more confident about a graft. This made us feel more positive about the outcome but we had to remember to be realistic; it was difficult to imagine him not surviving as he had done so well so far.

Alex’s blood pressure was up a bit and he was given a diuretic - Frusemide (Lasix) to get rid of excess fluid. The doctors were still very pleased as again there was no reaction to CAMPATH or Cyclophosphamide (chemotherapy drug). He was eating and drinking relatively well. He needed a little oxygen throughout the day and was getting fed up with being in the head box.

TUESDAY. DAY minus 3

Blood pressure rose during the dose of CAMPATH but apparently this sometimes happens and the doctors were not concerned. He had a positive fluid balance that day (more in than out). Alex’s white count was winding down but he was not yet neutropenic. Blood pressure and temperature were OK all day. He was eating and drinking normally – still preferring the pudding. The doctors were pleased with him and surprised he was eating and drinking so well. He started Acyclovir (anti virus drug).

WEDNESDAY. DAY minus 2

Alex started his “clean diet” – foodstuffs were restricted, no food was to be saved and packets once opened could only be kept for 1 week. All equipment had to be sterilized. He was happy all day, just requiring a little oxygen from time to time. He finished his chemotherapy drugs today with the last dose of CAMPATH. He was sick following the Itraconazole (a drug to prevent fungal infections).

THURSDAY. DAY minus 1

Last dose of Mesna (a "rescue" from the chemotherapy) today – finishing about 9 pm. The anti-rejection drug Cyclosporin was started today – to be twice daily. Alex was sick again with Itraconazole even after mixing it in his food. I was taken through the isolation procedures; Matthew would be allowed to come as far as the corridor outside the room so that he could see and speak to Alex.

Matthew was prescribed a pre-med. He was quite happy to tell people that he was a special boy who was going to give his brother some blood to make him better. We felt very proud of him.

Alex rolled over for the first time today – it was very exiting and good to see him doing normal things at normal times.

We managed to get him to take his Itraconazole that evening, he still heaved on it but we think most of it stayed down. Neutropenic today – white count almost zero. The stool specimen taken at the beginning of the week was clear of the Rotavirus but RSV still present.

FRIDAY – BMT

Matthew had the operation to harvest his bone marrow in the morning. It went well and he was soon back on the ward. I felt very torn between the two boys all day, wanting to spend time with both. As Matthew came out of the anaesthetic he was very angry - shouting and screaming. I don’t think he was in pain but he still had his cannula in his hand and a drip going until he was eating and drinking. We had bought him a present (a game), which he started playing and became happier.

Alex was now in an isolation cubicle. I had to change into sterilised clothes for the first time and observe isolation procedures. Matthew’s marrow arrived back at 3 pm. This was very quick but they had to do very little to it. I took a photo of the bag!! Matthew said “that’s my blood going into Alex” and was very proud of himself. The nurse gave Alex some "cover" before the transplant. It didn’t have the same effect as with the first dose of CAMPATH – he wasn’t the least bit sleepy. BMT started at 3.45 pm.

Alex was still eating and drinking quite well. His blood pressure gradually increased during the BMT but he had been given a dose of Frusemide before the procedure started to rid him of excess fluid. The transplant finished about 10 pm. We now had to wait.

It was expected to take two weeks before a graft – it was going to be a long wait!!

Alex’s white count dropped to zero, and stayed there. He was “up and down” for the next week or so, needing the TPN to keep him going. His mouth was sore and he was unable to feed normally. Then his counts started going up… and down … but the trend was up. His chest became wheezy again and there was some concern that the bronchiolitis was back, or that he had another chest infection. Mobile chest x-rays were taken. Alex became lethargic and tired, the doctors decided, nearly three weeks after the transplant that he was fluid overloaded, and that his lungs were full of fluid. All but essential fluids were stopped, and diuretics were given by what seemed like the gallon. Alex didn’t improve, in fact he got worse; he couldn’t breathe easily and his temperature and blood pressure were high. He was transferred out of the BMT unit and into Paediatric Intensive Care Unit (PICU). We knew this was not a good sign, he was still extremely vulnerable to infections and he had to change out of a clean environment into one where other people with germs were likely to be. There was a good chance he would need intubating – so that a machine could breathe for him.

To leave him on the PICU in that condition was the worst thing I have ever had to do – Chris stayed at the hospital and I took Matthew home. The doctors allowed Matthew into Alex’s room before we left – so that he could touch him (and say “good bye” I thought). I called very early the next morning to be told that there had been a huge improvement – Alex had not needed intubating. All his fluids (drugs included) had been stopped and he had been in an oxygen head box all night. It was a huge relief.

Within 36 hours we were back in the isolation cubicle on BMT where, strangely, I felt “safer”. Alex’s white counts continued to rise as well as his other counts and his need for blood transfusions diminished.

Alex left the unit less than six weeks after admission. What a wonderful and longed for day that was.

We were back on the ward regularly for IV infusions of GM-CSF (which helps to increase white blood cells). Gradually Alex's blood counts returned to normal.

During this time, Alex had many x-rays taken, each one successively showing bones becoming more normal - there was bone marrow space. It was obvious even to me (with no previous medical knowledge) that there was continuing improvement.

We visited the BMT outpatient area almost daily at first, then weekly, fortnightly, monthly, then less frequently until now we visit for check ups on an annual basis only.

We had a few set backs on the way, Alex had a few infections which needed treatment by the hospital, but nothing really major.

He is now almost 7, doing excellently at school and is a lovely, charming child. The boys are very close, and have a special bond because of Matthew's contribution.

He has a few ongoing minor problems. He is small (although within normal limits) and I am told he is likely to remain so. His teeth are very decayed, but he is managing to hold on to his milk teeth; we will have to wait to see what his adult teeth look like. We are expecting him to need dental work in the future; he is monitored about every three or four months at the Dental Hospital.

As to the future, the prognosis is very good. Whether his fertility was affected remains to be seen. He has to take penicillin daily in case his immune system was damaged by the chemotherapy and this may continue for life. Otherwise he is completely normal. He attends a local athletics club, beavers and drama club. He certainly enjoys activities like any other little boy; playing football, climbing trees, fishing for crabs at the seaside. We consider ourselves very lucky.