I hope that my story will give you a small insight into the journey of living with someone with a rare disease.
Isla was nine-and-a-half months old when she was first admitted to hospital. I had to call an ambulance when her breathing seemed to take a turn for the worst and she hadn’t stopped crying for 30 minutes. It was only once we were admitted to the ward, still not knowing why she was so upset, that a nurse suggested testing her urine in her nappy. Alas, she was found to have a urine infection! I remember at the time thinking it strange that such a young child could get a urine infection, especially when her fluid intake was so good.
Once back home we settled back into family life. But the start of 2013 was a very cold one and Isla really started to suffer. Isla had four chest infections over the course of two months and was given antibiotics each time. It was then that we were told that Isla seemed a ‘sickly child’.
Towards the end of the year I started to notice major behavioural differences as well as a massive dip in Isla’s energy levels. She would cry on the school run saying that her legs were hurting, even though the school is very close to our house and she’d never complained about it before. Isla would also fall asleep everywhere. In the middle of playing, she would lie down on the floor and fall asleep. Halfway through her lunch she would fall asleep or it would happen while she was sitting up. As well as being exhausted, Isla also had really mushy and foul smelling bowels. Something was definitely wrong.
The GP wanted to start by removing gluten from Isla’s diet and then reintroducing it after several months and doing a blood test then to see if there was any improvement. By this point I was convinced that something was wrong so insisted on a blood test first.
When she’d had it, the surgery called saying that the doctor wanted to see us in the morning to discuss Isla’s blood results. I can honestly say that that night was the worst night of my life up to that point.
The following morning the whole family – all five of us – piled into the doctor’s office. Myself and my husband Rich were complete nervous wrecks but tried to maintain calm faces.
When the doctor said that Isla had a low white blood count our hearts sank. We needed to be referred urgently to a haematologist as Isla’s neutrophil levels were severely low. The only glimmer of hope at this point was that Isla’s overall white blood count was low, which meant that leukaemia was unlikely.
We were sent home to await an appointment with the haemotologist but before leaving it was stressed to us that Isla could not have a temperature above 38 degrees and that if she did, it was a medical emergency – the her neutrophil count meant that she was unable to fight bacterial infections. To say that I was terrified is an understatement.
At our first appointment with the haemotologist, Isla was the model patient: alert, active and ‘well looking’. The haematologist told us that as Isla looked so well, she would most likely have to have one more blood test a couple of months later and then she would be signed off.
The following morning we got a call. Isla’s neutrophil count had dropped even lower than before. I knew in my heart that something was wrong. The haemotologist stressed again the importance of monitoring her temperature and getting her to A&E promptly if it spiked above 38.5 degrees. I remember getting off of the phone and immediately checking Isla’s forehead, something I still do repeatedly every day, much to her annoyance.
We fumbled through the next month with Isla’s energy levels still really low. I used this month to research everything I could about neutropenia – the more I read, the more everything seemed to fit with what we were dealing with, with Isla.
At the next appointment, the haematologist gave her the official diagnosis of autoimmune neutropenia (AIN).
I just felt helpless. As soon as I got home, I started to try and find a support group for AIN so that I could talk to someone who had been through it. That’s when I found the Facebook group ‘neutropenia support group UK’. This group has been amazing for when I’ve needed general support and also for when I’ve had specific neutropenia questions. They’re such a lovely bunch of people and everyone who is part of the group either has neutropenia or has a loved one who is affected.
By August 2014, Isla spiked her first temperature and it was the scariest moment of my life. I took her to the out of hours doctor as she wasn’t herself and her temperature was 37.7 degrees. By the time we got to the doctor’s office, 15 minutes later, her temperature was 38.1 degrees so the doctor told us to head straight to the hospital children’s ward and that he would call ahead.
Having to cuddle Isla tight while they inserted a cannula and took more blood was heart breaking (and still is!). Isla was terrified. But in true Isla spirit she let them do what they had to do and took her three days of intravenous antibiotics like a star. I was stunned by how brave she was.
Since that first admission Isla has been in hospital with tonsillitis needing five days of intravenous antibiotics, and again with a viral infection that needed three days of antibiotics, and then again with tonsillitis needing a further three days of intravenous antibiotics.
During Isla’s last admission it was decided that preventative measures needed to be taken to try and stop the inpatient stays as they were getting closer and closer together. At this time, Isla was also tested for another autoimmune disease where neutropenia is the main symptom along with bowel problems. It’s called Schwartzman Diamond Syndrome (SDS), a pancreatic enzyme deficiency, which would put her at high risk of leukeamia and would require yearly bone marrow biopsies. We are still waiting for the results of this test.
Isla now has two hospitals looking after her, a paediatrician, a haematologist and a paediatric haematologist. She has an amazing medical team and I am very grateful for this as it’s really hard to find specialists who fully understand neutropenia. I have heard horror stories from other families where they have had to fight just to be heard and not be shrugged off the ‘sickly child’ or ‘weak person’ comment.
In addition to the inpatient stays which are disruptive enough, Isla suffers from eczema which flares up and can get very sore if preventative cream isn’t used. Her energy levels still aren’t right and I have had to buy a buggy board just to do the school run. She also gets mouth ulcers and sore bleeding gums so needs to use a baby tooth brush to prevent her gums from bleeding.
You would think having to deal with all of this at such a young age would produce a very grumpy young girl but Isla continues to amaze me with her resilience. She has her moments as they all do but she is incredibly cheeky and funny and has all of the nurses under her spell!