Assessment 3 - Factual Storytelling

Feel it in the Bones

It’s the end of summer, the days are still warm and the sun is still taking its time to disappear each afternoon and the cicadas are out, welcoming in the evening. You walk out the back door of your home to get the washing off the line. You breath in deeply, you haven’t been out all that much these Summer holidays, you’ve had a few aches and pains in your body occasionally that just make you feel tired.

You get about half way through the washing when you feel the weirdest sensation in your hand; it’s stiff and difficult to move. You step backwards, at least you try to, your legs are feeling odd now as well. Like two sacks of sand have replaced them. You tumble backwards, unable to stand; pain is spreading through your body. You have tears in your eyes from the pain and the helpless feeling you have being unable to move. You call out for help while you’re stuck there, lying on the ground. The pain and the stiffness of your body makes you panic.

From the moment Emma* fell back onto the ground, unable to move, she had an idea of what was going on. She had been aware that something like this could happen for her whole life, but never did she imagine it would be quite like this. 

When Emma was only a year old she was diagnosed with Kostmann’s syndrome, also known as severe congenital neutropenia (SCN). It is a currently incurable illness that results in problems with the bone-marrow system in a sufferer’s body. It doesn’t give them the same disease-fighting abilities the rest of us take for granted. This makes Kostmann’s syndrome patients more susceptible to bacterial and viral infections. When she was diagnosed, Emma’s parents were told that there was a 75% chance that their daughter wouldn’t make it past the age of three. Having the syndrome meant that while she grew up like any other kid, able to run and play like everyone else, her parents had to be cautious with her, always careful, especially during flu season.

Despite having Kostmann’s syndrome for her whole life, it hadn’t caused many problems for Emma until the beginning of 2011, just before she was about to head into her final year of high school. She began to experience recurrent and persistent infections, and began to suffer from what felt like chronic fatigue. The trips to the hospital became frequent throughout the rest of her holidays and well into the first few months of school. Emma wondered if this was going to be her new life, a fragile, tired teenager who wouldn’t be able to finish high school until she was well again.

“It was difficult. I’m the only one in my family with Kostmann’s, so it was hard for them to understand what I was going through, how sore my body got. But I could tell my parents were worried,” Emma says, when asked about how her family coped. 

In order to treat the headaches and bone pains that Emma was experiencing she began undergoing Recombinant G-CSF treatment. It stimulates the colonization, production, and function of neutrophil precursors (click here if you wish to learn more) into mature neutrophils (white blood cells). To receive this treatment, Emma went to China. Being in a new country with doctors she hadn’t met before to look after her in the treatment process was a daunting experience.

“My legs felt swollen and they hurt a lot. It felt as if there was fluid swelling to the bottom of my legs and I couldn’t move them properly without being in pain. I didn’t know why my bone marrow started to play up, but it had me constantly wondering how long I would be bed-ridden for. I didn’t want to continue living under such controlled conditions,” Emma says.

After Emma began treatment, more bad news came her way. Despite receiving treatment for her illness, she was still reminded that Kostmann’s syndrome was incurable and her episode of pains and swelling could have meant her condition was worse than it had been when she was diagnosed as an infant. Because of this, the doctors told Emma what her parents were told sixteen years earlier.  

“Being told that I had an increased chance to develop Leukemia and a variety of blood or bone cancers was one of the most frightening things I’ve ever heard in my life,” Emma stated. “I’ve made it past three years of age, obviously. But, that doesn’t mean I’m not worried.”

Since being on the Recombinant G-CSF treatment, Emma’s health has improved drastically. The feeling of vulnerability and anxiousness about her next attack on her bone marrow or next infection has slowly been disappearing. Emma has been able to slowly wean off of some of her previous medications and is regaining control back over her life. She has since graduated high school and is studying at the University of Queensland, aspiring to be a dentist. 

“The experience has been life changing in a good way. I think I understand what it means to be grateful for all the small opportunities and blessings in life a lot better than I used to,” Emma says with a smile. “Plus my family is able to joke about it with me now, we make gags about me being able to “feel it in my bones” when I’m getting sick. I like it this way,” she laughs. 

Emma has been battling her illness with consistent improvement from her treatment. However, some people with Kostmann’s syndrome aren’t as lucky. If you would like to help with research into the illness or help support families in a situation like Emma’s, there are a few ways you can help. You can donate through support groups like the Neutropenia Support Association Inc. or you could even donate blood through the Australian Red Cross Blood Service. Every donation counts and will help in the diagnosis, treatment and finding a cure for Kostmann’s syndrome.  

*Name has been changed upon interviewee’s request.