A Mother's Story
Living with James
James is 11 years old and has Type 1 Gaucher disease. James was diagnosed with Gauchers disease earlier this year, here is his story in his own words:
‘I live in Harrow with my mum, dad, sister and brother. My story begins earlier this year when I was in year 6 at primary school. My left knee started to swell and was painful; at first I thought it was a sports injury as I had just started playing table tennis at an after school club. In February I played table tennis for the whole day at the National Schools Championship where I was a zone finalist and during the day my knee got much worse.
From GP to Great Ormond Street Hospital
‘My mum and dad took me to the doctor and I saw a trainee GP who was not sure what was wrong with me so he phoned the hospital for advice and I was told I had to go to the hospital straight away. At the hospital a doctor named Helen felt my tummy and said she thought I had a very enlarged spleen. The same day I saw another doctor called Mr Hyer who sent me to Great Ormond Street to the leukaemia ward to have a bone marrow biopsy.
'At Great Ormond Street hospital the doctors took a lot of blood and I nearly fainted as no blood wanted to come out of my veins that day. Later that day I saw a blood doctor and he told us that he had found some funny cells called ‘Gaucher’ cells in my bone marrow. ‘We then had an appointment in the next few weeks to see Dr Vellodi and Niamh Finnegan the clinical nurse specialist. Dr Vellodi sent me for lots and lots of x-rays and scans. A few weeks later I had an appointment at GOSH in Kingfisher ward to start my Cerezyme infusions.
‘I now have my Cerezyme infusions every two weeks. After eight infusions of Cerezyme at the hospital I have started to have them at home. I am about to have the third one at home and Tracy my nurse is bringing a new nurse with her.
Telling my school friends
‘After the summer holidays I started at my new High School and there were lots of children I did not know in my class. When I was at GOSH having one of my treatments Lee Mead who is the star of the musical ‘Joseph’ visited the ward and my dad took a picture of us together. I took this photo to school and used it to explain to my class about my cells and bone marrow. It made it easier to tell them as I was worried about them making fun of me as some children had done this in my primary school. But everyone liked the photo and my form teacher put it on the notice board for everyone to see.
‘My spleen has gone down a lot but Dr Vellodi says I cannot do all sports yet. This has made me a bit sad as we have a big sports centre in high school and I cannot do all these things with my friends.’
Meeting other Gaucher children
‘I would like to meet other people especially young people with Gaucher disease as it would be good to have other people of my own age to talk to.
Mum’s Story by Angela Cox You have read James’ story and ours is almost the same writes James’s mother Angela:
‘Our perspective as his parents is slightly different as we were aware that things were not quite right for some time before his diagnosis. I work as a radiotherapy radiographer and this gave me an awareness of the implications of some of his symptoms…but you never want to fear the worst. James had heavy nosebleeds, easily bruised and other small problems and we had been alerted by his school welfare officer that they had problems stopping a nose bleed which had lasted a long while. However he always seemed to recover quickly.
The Journey Began
‘When he first got sent to the hospital we were aware that they were looking for leukaemia before they indicated to us that this was what was wrong with him. That night at the hospital when he was first examined we felt devastated. Initially he was going to be admitted but there was a flood on the children’s ward and we were sent home and had to return first thing next day.
‘He had ultrasound scans of his liver and spleen but the blood results did not add up to the leukaemia diagnosis. The doctors went through as many possibilities as they could think of but still nothing fitted. It was then decided he should have a bone marrow biopsy to clarify if it was leukaemia and if this was negative he should then be referred to the rheumatologists for further investigations. We then saw the Haematologist at GOS where the bone marrow biopsy was carried out and that afternoon was like a roller coaster ride…..Good news, no evidence of leukaemia or any other malignancy therefore we could just go back to our local hospital for a rheumatology referral.
‘But as James recovered from the general anaesthetic we were called back in to see the consultant again and we both found ourselves having our spleens examined to see if they were enlarged too. More news from the lab…some cells had been found in his marrow that was identified as Gaucher Cells. We felt very relieved that it wasn’t cancer and we had never heard of Gaucher Disease but understood the seriousness of storage diseases. More blood had to be taken and the results would take several days to come back to confirm the final diagnosis. In the mean time we were sent home and told we would be sent an appointment to see the Metabolic team at GOS in a few weeks.
What was Gaucher Disease?
‘The roller coaster ride of emotions had only just started. Relief and heartbreak. We researched on the internet and met with good and very bad news…we wondered if one of the cancers might not have been easier to handle. However after a more logical approach to all the information available we formed a better understanding of the disease and the implications for James and the treatment available. James had a massive spleen and liver and moderate bone pain, involving his spine and other joints. No one wants their child to suffer and you wish you could have it yourself and not them. You feel helpless and cannot control events. However James has adapted really well and we wish we were as brave as he is. Now we are coming up to his 11th infusion and his Dad (Albie) and I will both be learning to do his infusions at home for him over the next few months? We have seen some improvement in James already and we hope this will continue. We are coming to terms with his condition and adapting our lives around it. In particular James is looking forward to a special trip to New York before Christmas with all his family.
‘We are grateful to so many people who have been a part of our journey over the past 10 months and would like to say thank you to; the GP at Simpson House, Dr Webb, Dr Hyer and Helen at Northwick Park Hospital, Dr Vellodi and Niamh Finnegan and the staff of Kingfisher Ward at GOS and to Tanya at the Gaucher Association for all their expertise, care, advice and general helpfulness.’