Tom's Story (November 2017)
This is the story of Tom, who died on 9 July 2014 from infections after a BMT. His story is told by his mum, Michaela. Tom had all the classic symptoms of CGD when he was a baby and was misdiagnosed with Crohn’s disease. He was finally diagnosed with CGD, p47 phox deficiency, when he was 12 years old but by this time his CGD had taken an immense toll on his body.
Tom was born on 12 July 2000; he was my one and only child. Tom and I had a very open and honest relationship: we discussed everything and anything. He was certainly far wiser than his years. Tom was a very bright child. He was sarcastic, but in a good way, and very quick-witted: he certainly liked to keep everyone on their toes. He had a great relationship with his doctors and nurses, even giving them nicknames, which some of them didn’t get to know about!
Tom’s long journey to a diagnosis
Before Tom was one month old, he’d started suffering with recurrent infections, spikes in his temperature, diarrhoea and superficial skin infections. He also suffered with blood in his nappies on several occasions. On seeing our GP, I was reassured that Tom had a virus and did not require any treatment. We were eventually seen by a paediatrician that year regarding his symptoms, but Tom was discharged.
In April 2002 I had to take Tom to King’s Mill Hospital (KMH) in Nottinghamshire because he had blood in his nappy, tummy ache and weight loss despite eating well. He was found to be anaemic, but no further investigations were undertaken at this stage, and Tom was discharged.
Two years later Tom was referred back to the paediatric department by his GP, owing to ongoing symptoms of fever, lethargy and several episodes of blood in his nappy again.
Once Tom began nursery, the fun and games really started. Often, Tom would suffer with cracking around both sides of his mouth, and the staff at the nursery thought it was impetigo. As a result, I used to get monthly phone calls from the nursery, asking me to collect him early. I would have to supply the nursery with notes from Tom’s GP confirming that it was not impetigo – as that’s very contagious – so that Tom could go back to nursery.
‘Unusual past history’
Tom continued to suffer from anaemia, skin problems and bowel symptoms and, in November 2004, he was again referred to the paediatric department at KMH by our GP. Around that time Tom was also referred to a paediatric dermatologist at KMH, with persistent peri-oral dermatitis.
Having been diagnosed with anaemia, Tom was prescribed iron supplements and was also given various creams for his dermatitis. We were asked to attend regular review appointments. It was noted that Tom’s ‘past history was unusual’ when he was first reviewed by the dermatologist and that ‘systemic causes should be kept in mind’.
More appointments with paediatricians and dermatologists
Tom was seen again by a paediatrician in March 2005. It was recorded that Tom had suffered with peri-oral dermatitis and had recurrent viral infections. He had some blood tests, which again confirmed that he was anaemic. Following another paediatric appointment in September 2005, Tom was discharged. At this point it was noted in his records that he was ‘not anaemic’.
In February 2007 I took Tom to see the dermatologist because he had a flare up in the sores around his mouth. The sores were always present but were particularly bad at this point. The doctor attributed this worsening to a recurrence of Tom’s anaemia but he did not refer him back to the paediatrician for investigation.
Persistent bowel problems
By the age of seven, Tom was suffering from persistent bowel problems, mainly diarrhoea, which he had up to five times a day, with some bleeding. He seemed to be going to the toilet constantly. He had lost a lot of weight and was very lethargic. I can recall that on Christmas day in 2007, Tom had only two mouthfuls of his dinner and then spent about an hour in the bathroom. I had been back and forth to several doctors with Tom regarding these symptoms, but it felt like a battle to get someone to take my concerns seriously.
The diagnosis of Crohn’s disease
Eventually, in February 2008, a referral was made to a paediatric gastroenterologist at Queen’s Medical Centre (QMC) in Nottingham. Tom had an endoscopy under general anaesthetic and was diagnosed with Crohn’s disease.
Tom was given medication for Crohn’s disease and initially put on a liquid diet. This was very difficult for us as a family and traumatic for Tom; he’d become very poorly and was admitted to hospital with dehydration on a couple of occasions. He continued to lose a lot of weight and was only about three and a half stones when he was eight years old. He looked like a skeleton with skin on. Every day you could see another vertebra or rib sticking out. It was very distressing to see. Everything was such a battle while he was on the liquid diet and totally heart breaking.
Tom’s poor quality of life
Days out had to be planned for toilet stops. Trips to visit family in Scotland meant we’d end up stopping at every service station en route. Even going to the supermarket could take forever if Tom had to dash to the loo. We’d have to get up in the middle of the night to change his pyjamas and bedding if he’d not made it to the bathroom in time. He wouldn’t go to friends’ houses when asked; he didn’t like going on school trips and he would not have or go to sleepovers with his friends. People don’t realise what it was like for him: it was like having a stomach bug every day.
In June 2008 we had a family holiday to Disney World, Florida. Tom was so ill and frail that he had to be pushed around the theme park in a buggy.
In a box labelled Crohn’s
Once Tom had been labelled as ‘Crohn’s’, all other possible causes for his multiple symptoms got dismissed. He was reviewed regularly by the gastroenterology team following his diagnosis of Crohn’s disease and received monthly appointments while he was on the liquid diet. He carried on having sores and infections, but I felt that the doctors stopped asking questions regarding his other symptoms and instead attributed everything to the Crohn’s disease. I remember at one appointment with the gastro team, Tom complained of pain in his chest, but this was dismissed as him just having a cough.
Doctors didn’t look at the whole picture of his health
After Tom was referred to QMC, we learned that his dermatologist from KMH also had an office at QMC and that she attended multidisciplinary team meetings to discuss patients with issues involving dermatology, immunology and gastroenterology. However, as far as I am aware, Tom’s symptoms were never discussed at one of these meetings and no connection therefore appeared to have been made between his symptoms at an early stage. To me, this was one of the major failings in his care.
In December 2012, Tom started to complain of chest pains that he described as ‘a blocking feeling in the chest/sternum’. Doctors initially put this down to gastritis owing to his Crohn’s, but his symptoms persisted, to the point that Tom stopped eating and drinking because of the pain. At that point I took Tom to KMH’s accident and emergency department: it was just before Christmas 2012. They again diagnosed gastritis and gave him antacids. While we were at hospital on this occasion, Tom had a chest x-ray.
Subsequently, between Christmas and New Year, I received a call from a consultant radiologist at the hospital saying that something had shown up on Tom’s x-ray and a referral had been made to the paediatric team. At that appointment we were advised that the chest x-ray had revealed a shadow, and Tom was given strong antibiotics. The plan was to review Tom again a few weeks later and repeat the chest x-ray. The repeat x-ray showed no change and he was therefore given more antibiotics. The doctor also sent a letter to the gastroenterology team at QMC, raising some queries.
In April 2013, Tom attended a routine gastro appointment at QMC. The gastroenterologist referred to the letter received from the consultant paediatrician we’d seen at KMH and asked us what had been happening. Tom explained how he had not been feeling right since November 2012, when he had started to have chest pain and a reluctance to eat and drink.
At last an NBT test was done
The gastroenterology team undertook some blood tests, including an NBT test, which came back as abnormal. The NBT test was repeated the following week and Tom was diagnosed with CGD. He was 12 years and 9 months old. At that point I was provided with some information regarding the condition, and Tom was referred to an immunologist at QMC.
Tom had been wrongly diagnosed with Crohn’s disease and therefore wrongly treated for five years! He was prescribed Mesalazine for this misdiagnosis. When he was eventually diagnosed with CGD, I was advised to stop giving him the Mesalazine granules because they could cause lung problems, but at no point during his Crohn’s treatment was his chest ever checked.
Tom was first seen by the immunology team on 18 April 2013 and blood tests were arranged and sent to Great Ormond Street Hospital (GOSH) for advice. Later that month Tom attended the immunology clinic, where a diagnosis of p47 deficiency, consistent with autosomal recessive CGD, was confirmed.
Getting our GP involved
The first time I took Tom to see the doctors at GOSH, they advised me to make an appointment with our GP and let the surgery know that it would be receiving prescription requests for many drugs that Tom would need, some of which were unusual. I was shocked when the GP started laughing as I passed on this information to him. As we walked out of the consultation room, Tom and I just looked at each other and laughed in pure shock. Tom then said, ‘Glad I’m not dying!’. It was surreal.
Assessing the damage to Tom’s lungs
In 2013 Tom had lung biopsies to investigate the damage that had shown up on his scans. A CT scan of the thorax had shown pulmonary fibrosis with multiple bullae. As it was Tom, the procedure wasn’t going to go according to plan – his lung collapsed during the biopsies and he was therefore kept in hospital for 13 days. He didn’t think it was too bad being stuck in a hospital room, sending Mum out shopping for his every whim!
In general terms, Tom wasn’t particularly unwell at this point and could manage to do most things that a healthy 13 year old could, although he did have to spend a lot of time in the bathroom and was very tired. The scans and biopsies showed severe scarring to Tom’s lungs and he wasn’t allowed to fly as a result. This news devastated Tom because he wanted to go to Turkey for a holiday.
We tried to keep things as normal as possible, and Tom did his best to cope and had a brilliant sense of humour. He still had his jobs to do at home, and although he was ill, it certainly wasn’t going to get him out of keeping his room tidy or having to empty the dishwasher.
Tom’s health deteriorates
It was 12 November 2013; we’d travelled to London for a review appointment at GOSH. We’d decided to get a later train home so we could visit Harrods and Hamleys to do some Christmas shopping. We used to make our trips to London for hospital appointments as fun as possible, with treats, making a day of it. When we were in Harrods, Tom collapsed. His legs gave way and he became very shaky and had very little energy. He was completely exhausted at this stage and had gone from being generally quite well to very poorly at a rapid rate. He never really bounced back after this episode. Tom never returned to school after this.
After this incident, Tom went to his grandparents’ house every day while I was at work. He continued to deteriorate and eventually couldn’t walk more than 100 yards. I had to buy him a wheelchair because trying to get one from the NHS would have meant waiting over three months.
Tom was started on steroids, but these didn’t seem to have any impact, other than him gaining weight, which to some extent he needed.
Considering a BMT
In June 2013, Tom was referred to a consultant immunologist at GOSH for consideration for a bone marrow transplant (BMT). From November that year, the doctors began to actively search for a donor and Tom went on the transplant list. Luckily it didn’t take long for them to find Tom a 10/10 match.
Tom had a dedicated clinical nurse specialist at GOSH, funded by the CGD Society, who used to help us in relation to his condition. Helen was, and is, totally amazing. We’d have been completely lost without her help and support. Tom liked to think he was her only patient, but I suppose that was how she made him feel with her dedication to him.
Tom was in charge
Tom was 100% in charge of his care; he knew exactly what every one of the 18 pills he took daily was for and their full names. I would get home from work to be told that he had spoken to Helen and then I would be told what the plan was. Obviously this was followed up by emails and phone calls by myself with Helen and the various consultants, but Tom was totally in control, to the point where I felt like I was constantly in a science lesson.
Choosing a centre for his BMT
We had been told that BMT could offer a cure for Tom’s CGD, so we started to explore where to have it. As Tom was 13, he wasn’t keen on all the BMT rules at GOSH and, after visiting the wards at both GOSH and University College London Hospital (UCLH), Tom decided that he would prefer his BMT at UCLH, mainly because of the Wifi and the more relaxed rules about food there compared with GOSH.
On 28 April 2014, Tom had a PICC line inserted. The team that inserted his PICC line were amazing: we had his music on, were dancing around and eating Haribo sweets – it was our very own PICC line party! I remember there was blood flowing down his arm and all he was bothered about was looking at the screen and seeing the vein bobbing up and down as the nurse tried to insert the line. He thought it was brilliant.
Tom has working neutrophils!
Tom was admitted to UCLH on 14 May 2014 for the conditioning to start in readiness for his BMT. Everything went to plan during the transplant, which took place on 23 May 2014. Tom was adamant that now it meant that he had to have two birthdays. In the weeks following his BMT, we were advised that it had been successful. Tom’s neutrophils were rising and he was on the mend. We were told that his CGD had been cured. He was so happy.
Tom had some ups and downs during his initial recovery period. He suffered with diarrhoea and was given antibiotics for this and a raised temperature, but he’d recovered enough to be allowed out. 26 June is my birthday, so the two of us went to Pizza Express – he was doing really well.
Then, on Friday 27 June 2014, Tom started to complain of a headache. He deteriorated further and became increasingly poorly over the following 10 days. From the time that Tom started to complain of a headache onwards, I did not feel like much was being done. Some tests were carried out by the clinicians at UCLH, but nobody seemed to know what the issue was. Tom then became extremely poorly on 7 July 2014 and deteriorated rapidly. He was transferred to the ICU, where he died two days later on 9 July 2014, three days before his fourteenth birthday.
As the cause of his death was unknown, we had a limited post-mortem done. Tom died from a combined infection with adenovirus and toxoplasma gondii in his lungs. I understand that he was tested for antibodies to toxoplasma gondii in February 2014, prior to his bone marrow transplant, and that the results indicated that he had previously had an infection with toxoplasma.
My life without Tom
My life will never be the same after losing Tom. Nothing can ever make up for the loss of my cherished and only child, but by talking about Tom and telling his story, I can raise awareness of CGD (which Tom was very keen to do). I have done this by sharing Tom’s experience with an audience of doctors at a conference of the Institute of Biomedical Science in the hope that when doctors come across a child that has symptoms that don’t fit neatly in a box, they might think back to this and consider if CGD is a possible cause. The key is early diagnosis to prevent CGD from being a killer. I asked the doctors to think outside the box because it might be the difference between giving someone a death sentence and saving their life.
Tom had 91 appointments with GPs, paediatricians, dermatologists and gastroenterologists before he got his CGD diagnosis. This is ultimately what cost him his life. If he’d been correctly diagnosed earlier, he may have stood a chance because his body wouldn’t have been as badly damaged and he may have been able to fight the infections that killed him.
When Tom was diagnosed, we were constantly told how rare CGD is. I struggle with this and can only put the lack of knowledge down to ignorance in the medical profession, as on 12 February 2014 there was an article published in the Daily Mirror to celebrate the fortieth anniversary of the Anthony Nolan Trust. The article told the story of Simon Bostic, who, at the age of two, had the first ever bone marrow transplant from an unrelated donor for his CGD. You can’t tell me that medical science hasn’t progressed in the last 43 years, which is why I say the lack of knowledge about CGD is down to ignorance rather than negligence.
Learning from Tom’s experience
Even though Tom died following his BMT, I would certainly say to anyone with CGD that if they’ve got a good enough match, then yes have a BMT, but what I’d also say is question everything that you’re told.
When growing up, I was taught to respect my elders and not to ask questions of people in authority, and most certainly to never question a doctor. My biggest regret regarding Tom’s care is that I didn’t question everything, but thankfully this mentality seems to be starting to change and that from my point of view is a good thing: no one is infallible.
One of my school teachers told me that ‘knowledge is power’ and it certainly is. However, doctors need to be more open with patients. I appreciate that not everyone wants to know everything, like Tom and I did, but a tick list on the back of the transplant guide is all it would take.
What I’d like to see change in relation to the BMT process is patients being told about what viruses they have pre-transplant, so if they become unwell post-transplant, they have the knowledge to be able to ask the relevant and pertinent questions.
Tom loved nothing more than to shock everyone and anyone he met: doctors, consultants, hospital directors, vicars and teachers. So, with him in mind, I’ll leave you with his favourite line, which was: ‘Do you know that a Komodo dragon has two penises?’
Read more personal stories about BMT.
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