Written by Flora’s Mum, Susannah Shaw
Neurofibromatosis – a word that meant nothing to us three years ago – but when I noticed our baby girl Flora was developing some pale birthmark-like patches, I turned to the internet for answers. I discovered that these patches are ‘Cafe-Au-Lait marks’, and having more than six of these is a strong indicator that you have a genetic condition called Neurofibromatosis. They say don’t google this condition – but everyone does, and soon I had read everything there was to read about this awful condition and seen the shocking images of people covered in tumours. This is not a diagnosis you want to receive for your beautiful baby girl.
Flora was seen a few times at the local hospital and she was given a genetic test for NF1, which came back as negative. However – having read up on this – I knew that the test can be wrong, and only time would tell if she really had it or not. Neurofibromatosis is a progressive condition, so people develop new symptoms over time, and there is no way of knowing if you will be affected mildly or severely. So, we got on with our lives, and tried not to think about this possible diagnosis too much.
Flora developed into a happy toddler – always on the small side in terms of height and weight, and reaching her physical milestones slower than other children – but her speech was good and she was growing into a bright and confident little girl. She had her third birthday in April 2021 (her second ‘lockdown birthday’). When I looked at the photos of her sitting by her cake, something made me feel concerned about the way she looked – a bit pale and thin – but she was active and happy, so I didn’t dwell on it too much. Then over the next two weeks she really went off her food, and she was extremely tired – falling asleep even just after a nap. I thought she must have a virus or something, but then one day I noticed her leggings were falling down when she walked, and as I put her in the bath that night I was suddenly struck by how terribly thin she had become. I started to panic and shared my fears with my husband. We put her on the scales and she had dropped right off the bottom of the growth chart for her age, weighing the same as a one-year-old.
It was the weekend at this point but I knew we needed to see the GP first thing on Monday. I was feeling sick with worry, and counting down the hours until she could be seen. We were lucky to be seen straight away by a brilliant GP who referred us to the hospital and on 20 April she was admitted so they could carry out some investigations – we had no idea that we would not go home for another 4 months.
The first two weeks in hospital were horrific. Flora was seen by so many different people, she had countless painful blood tests to check for every possible disease or condition they could think of. Every test came back all-clear, and I was becoming desperate for some answers.. We were then referred to a genetic counsellor, who was very knowledgeable and who arranged a very thorough test of all Flora’s genes along with mine and my husbands. It would take a few weeks for the results to come back.
Flora looked so terrible that the hospital even referred us to Social Services, in case she was being neglected. This was an unbelievable blow to me. I was so upset – and worried – about this unwelcome intervention into our family, especially during such a stressful time.
We had been in hospital for over a week and Flora was becoming more lethargic. I had continued with my research and after searching ‘NF1 and sudden weight loss’ I found an article about tumours in the brain affecting the hypothalamus and causing weight to drop dramatically. I showed this article to one of the doctors. They agreed that an MRI scan would be the next step, but because it was a Bank Holiday weekend, we had a painfully long wait. She deteriorated over the weekend, but it was Wednesday by the time she had the MRI scan.
When Flora had recovered from the general anaesthetic, the doctor came in to say that they wanted to discuss the scan results with me, and asked Flora’s favourite nurse to play with her while we went into another room. I knew then that it was bad news.
Sitting in the room were two consultants and a doctor. They told me that Flora had a plum-sized tumour in the centre of her brain. They suspected it had been growing slowly for a long time, and had just reached the point where it was causing problems. It was near the hypothalamus and pituitary gland. I was totally calm but stunned that this was the diagnosis I had been reading about. I felt shocked but also relieved – I wasn’t going mad – I thought there was something very wrong with Flora, and now I knew for sure. I then had to call my husband to tell him that the worst-case scenario was now our reality – then I had half an hour to pack up our things and climb into an ambulance with Flora for our transfer to the Children’s Hospital in Bristol. It was a difficult journey – the lovely paramedic entertained Flora while I struggled to take on board the news we had just received.
I had been prepared for this diagnosis, but I was not prepared for what it meant and for what came next. What was supposed to be a few days in Bristol to have a biopsy and a full diagnosis turned into weeks of going through hell. A biopsy sounds harmless enough, but when trying to reach a tumour in the centre of your brain it is not a simple procedure. There was a bleed during the biopsy operation, and Flora came out with an external drain, draining excess brain fluid into a tube. She couldn’t sit up while she had this in place. Two days later she suddenly became extremely unwell following a bleed inside the tumour which drastically inflated its size. The room filled with nurses and doctors and the monitor’s beeping went off the scale. It was the middle of the night. I called my husband in from home and Flora was transferred to intensive care. This was the most terrifying night – she was behaving like she had had a stroke, she could not communicate and was reaching for things that weren’t there. I really thought that we may lose her that night. I stayed with her and read stories and sang to her, not knowing if she could hear them. Parents are not supposed to stay in intensive care over night, but Flora had the only private cubicle in there and no one asked me to leave.
The neurosurgeons considered operating that night, but doing complex brain surgery at 3:00 am when the team has had little sleep is not a good idea so they chose to wait and see what happened. We sat and watched her for another two days and thankfully she remained stable. On the third day, just as she was starting to get over the earlier bleed, she was taken in for major brain surgery. We were told that doing nothing was the worst thing we could do but that the next greatest risk to her was the surgery itself. She was extremely underweight and already very weak. When my husband and I left her after she was given the anaesthetic, we broke down. The operation took 15 hours and the next time we saw her it was past midnight – the team of surgeons and anaesthetists looked shattered.
Flora remained on ICU for a week, then moved to the High Dependency Unit, then to a neurosurgery ward and finally to a rehabilitation ward. Another complication arose when they removed the external drain, and I later noticed her head swelling – it was clear that she was no longer able to drain the brain fluid naturally. This condition is called Hydrocephalus and she went for another operation to have a permanent shunt fitted. Flora’s rehabilitation took weeks – to gain the strength just to sit up on her own, to start eating, to learn to walk again. I was never prepared to be hospital for such a long time and because of Covid Flora was not allowed any visitors, so she didn’t see her 3 siblings or any family or friends for months. It was tough. She had a lot of new medical problems that she hadn’t had before, because of the surgery and the tumour being so close to the pituitary gland. She was on steroids and didn’t look like herself and she developed a rare condition called Diabetes Insipidus which she will have for life and requires medication 3 times a day to keep her body functioning properly. It took a very long time to get this medication dose right, and many sessions with physiotherapists and occupational therapists to get Flora up and moving again.
Flora returned home 16 weeks after first being admitted to hospital, and our world had changed dramatically. At some point the wider genetic testing had confirmed her NF1 diagnosis. My husband and I were clear so this had been a spontaneous mutation (50% of cases are). Although I had suspected this for a long time, receiving the diagnosis was harder than I expected it would be. Perhaps because I know that the worrying will never end and Flora will spend her life going in and out of hospital. She is now halfway through an 18-month chemotherapy treatment plan. The surgeons were able to remove 98% of the tumour but the rest is attached to important nerves, so chemotherapy is being used to attack the remaining section. She takes it all in her stride, as so many children do.
Flora is not alone. 1 in 3000 people are born with Neurofibromatosis and there are many children struggling to live with a wide variety of physical, emotional and developmental issues, often spending a lot of time in hospital and when necessary undergoing surgery and gruelling treatment plans. NF1 is more prevalent than Cystic Fibrosis, Duchenne Muscular Dystrophy, and Huntingtons Disease combined, yet even many medical professionals remain very uninformed about this condition. Greater knowledge leads to quicker diagnosis of problems and better outcomes. An MRI scan should have been top of the list for a child who was being monitored for NF1 and was suffering from severe weight-loss (this is called Diencephalic syndrome), and not the last port of call. It is so important to raise awareness of Neurofibromatosis, and the Childhood Tumour Trust is on a mission to do just that, as well as to bring children with NF1 together, so they and their families have a network of support.
Thank you to Hippychick for supporting the Childhood Tumour Trust, and for raising awareness of NF1.