Sally’s story

‘If I was paid a dollar for every time I was told that no one has long term severe neutropenia, I’d be a rich woman.’

Sally, a woman in her 40s from London, has dealt with neutropenia her entire life – but for more than 20 of those years, her condition has been a mystery to her. The constant severe infections and attempts to justify them with various aspects of her lifestyle left her feeling estranged, not only in her own body, but from the confusion of peers and medical professionals alike.

NEUTROPENIA DIAGNOSIS

If you haven’t heard of neutropenia, you’re not alone – it’s an extremely rare condition that affects fewer than one to two per million people worldwide. Being diagnosed with neutropenia means that the number of neutrophils a person’s body has circulating through their bloodstream is significantly lower than that of a healthy individual. Not having enough neutrophils means that a person is much more prone to infection than the average individual – and when a person with neutropenia does get an infection, the symptoms are far more severe than what healthy individuals experience.

The turning point that helped reveal Sally’s condition to her came in the form of a bug bite. The bite appeared one day on the back of her leg, and it just wouldn’t go away. She recalls, ‘In fact, it just kept getting bigger and angrier all the time. Within hours of noticing it, I went to bed, woke up and had a thigh the size of a watermelon! A hot, red, heavy, pulsing thigh that was so swollen I couldn’t bend my knee – most unattractive when you’re 23!’

After going back and forth to the A&E in London, she suffered a ferocious temperature, nausea, and fatigue. Sepsis reared its ugly head, and she had to be taken to a bed in isolation. This triggered an eight month bout of going in and out of the hospital. ‘My neutrophils were extremely low, but this was simply noted as “one of my symptoms” and not really taken into account, as “‘no one is severely neutropenic”’, Sally explains.

Sally was finally properly diagnosed when she was referred to a hematologist at another hospital in London. It was a relief to finally feel understood. ‘Living with something invisible and yet that impacts your life in so many negative ways is entirely rotten.’ Because neutropenia is so rare, it’s often misunderstood and stigmatized.

TREATMENT

Treatment for a disease of this nature is difficult to cater to the individual, but it is possible. Sally gets weekly filgrastim G-CSF (Granulocyte colony stimulating factor) injections that allow her to take control of her neutropenia. Finding the sweet spot for injection frequency took years to calibrate, but Sally had finally been able to find what worked best for her.

Sally wearing a face mask and holding a pack of her medication. She lives with the rare condition neutropenia.

The injections solve a mighty part of her struggles, but Sally must still fight the disease with humility and courage. She shares: ‘There are times I have to sleep my entire weekend away or just hit a wall physically and fall into an utterly imperfect mess of a human. I allow myself these times, but this has been hard to swallow when I have to let people down last minute because I just don’t have the oomph to be sociable or put on a front’.

The side effects of the medicines she takes have intensified as she gets older. ‘I can sometimes only manage hot tears on a particularly bad night post-injection. I take them on a Friday, so as to limit any interruptions to my working week, and, on occasion, I get fierce flu-like symptoms – a spike in my body heat that’s uncontrollable, my body stiffens and I can’t fully extend my limbs, I feel like hot knitting needles are being spiked into my long bones and sacrum, and I shake uncontrollably.’

ADVICE

‘I tried for many years to “be normal” as I didn’t want any judgement for having a chronic condition – especially one that is so utterly unknown and rare. You have to adapt – it’s not a choice. But adapt is the word – not give up or give in. I have found inner strength that I never knew I possessed. I have become less afraid to simply say “no” if I can’t muster the energy. I am less fearful of offending or upsetting friends. If they are friends, they will stay by your side and understand, and hey, maybe even turn up at yours instead with a bottle of wine and their pajamas! Don’t hide the fact you live with a chronic condition, but also don’t let it define you.’

To learn more about people living with rare conditions, watch the UK’s official Rare Disease Day video. If you would like to share your own experiences, please email [email protected].

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