This week’s blog features another of our 2016 Student Voice Essay Competition submissions. Kiana Bowden, a medical student at St Andrews University, explores how the impact of a rare disease is much more widespread than its direct symptoms, drawing metaphors between them and board games. Kiana wrote it in loving memory of her friend Katie, with many thanks to her family, and in support of the Royal Manchester Children’s Hospital, CLIC Sargent and similar charitable organisations working to help young people cope with cancers and rare diseases. We are grateful to Kiana for sharing her story.

Rare, as defined by the Oxford English Dictionary can be “(of an event, situation, or condition) not occurring very often” [1], “(of a thing) not found in large numbers and so of interest or value” [2]. It scores you four points in a game of Scrabble™.

A rare disease is a life threatening or chronically debilitating disease, which, according to research, affects 1 in 17 people [3]. To put a figure on that, 3.5 million people in the UK will suffer from a rare disease at some point during their lifetimes. This, in fact, may sound like a large number, like these diseases are not rare at all. But the statistics are of little importance when you, or someone close to you, is that one among the seventeen.

A friend of mine had been experiencing pains in her knee. She was active, involved in sports, generally healthy. Doctors repeatedly put it down to a strain. After pursuing different tests and further consultations, the possibility of cancer emerged. With the discovery of a tumour, her whole world changed. We’d never even heard of osteosarcoma. The very word was so unfamiliar. In that instance, the term ‘rare’ certainly didn’t bring ‘interest’ or ‘value’ to mind, it only added to the fear of the unknown. If the idea of cancer had shaken us, the diagnosis of such an uncommon form of it was a high magnitude earthquake. Its tremors would resonate far beyond the symptoms which lead to it. We were worried, afraid and holding on to hope. This rare disease had made a huge impact, before any treatment had even begun.

Dealing with the diagnosis of a rare disease can be difficult for anyone. Difficult, as a word, may not even do that justice. 75% of rare diseases affect children and in such cases the difficulty becomes a parent’s tragic reality. Plans change. As do priorities. School and hobbies give way to operations and treatments. Schedules are at the mercy of available appointment times and hospital visiting hours. There’s little time to think and you’re not sure how much time you actually have. With rare diseases there are so many uncertainties, so little to go on. For the children especially, their experiences of such drastic changes from the norm are both exhausting and terrifying. The ‘norm’ being a relatively healthy, happy childhood, often oblivious to healthcare settings beyond pretending to be doctors and nurses at play time, or maybe the occasional trips to the dentist where shiny stickers are expected as standard. Family occasions and holidays could be celebrated completely carefree, without those questions of time or the severity of the child’s health condition.

My friend decided to raise money and buy presents for children who would be spending Christmas in the hospital where she herself had been receiving treatment. Of course she had always been a kind and caring person, but her experiences as a patient brought about a desire to help others in a similar situation to her. I’ll always admire her selflessness in this, and how she endeavoured to have a positive impact on the lives of others. She herself had been receiving chemotherapy to shrink the tumour, yet with little success. It felt like being catapulted back to square one in a game of snakes and ladders. Other operations and treatments were to be considered. As well as the Christmas campaign, she fundraised for charities which supported cancer care for children and young people. The need for these organisations cannot be stressed enough. The physical impairments imposed on children by the adverse effects and treatment of rare diseases can limit social opportunities and lead to isolation. Inevitably, the difficulty of keeping in touch with friends as an inpatient places strains on peer relationships. ‘”People… don’t treat you the same. Like sometimes they wrap you in cotton wool.” – Sally, age 11, 9 years post-treatment; Medulloblastoma’ [4]. Interactions within the family change after the upheaval caused by a diagnosis of a rare disease. It affects parents and siblings both emotionally and socially, not to mention the potential financial implications (such as leaving work to care for a family member). According to a study conducted on the impact of cancer on children, ‘…fear of getting hurt and concerns about mortality were often reported… other emotional issues such as lack of confidence and low self-esteem were also prevalent, hair loss in particular having a significant impact’ [5]. In a report focussing on the needs of young people with cancers, coping with the side effects of treatment was cited by half of interviewees as the most stressful part of cancer [6]. So not only the disease, connotations that come with it and its immediate symptoms have an impact on people’s mentalities, but also the treatment involved.

Receiving treatment and coping with the effects of a disease can also be life changing where children’s education and development are concerned. Learning and socialising at school is a huge aspect of their lives. School days also offer structure and stability, whilst ensuring children have the capacity to develop personally. Missing out on these activities is a concern for the child but also presents issues in the long term when it comes to recovery and returning to education. Delayed progression through education is in itself an aftershock of the impact a rare disease can have. Even after recovery (or a relatively normal lifestyle at least) is achieved, the impact the rare disease has had on a young individual resonates into the future. Physically, they may never be the same, nor entirely healthy again. And certainly where cancer is involved, there is always the possibility of recurrence. ‘”Well, my family is scared that my cancer might come back… My mum doesn’t like it when I play action games and throw myself about…” – Ben, age 9, 6 years post treatment; Wilms Tumour’ [7]. So many uncertainties remain. What are the genetic implications, for that child and their potential future children? Do other family members carry the same genes as the ones involved in the disease?  Is it possible that the cancer has spread to other areas of the body, yet to become malignant or be discovered? These worries would come naturally to anyone, but particularly so with the inquisitive nature of children and young people. Their questions, for the most part where rare diseases are concerned, remain unanswered due to the limited knowledge we have access to. In the UK, 82% of children with cancer survive [8], but recovery from the various impacts of the disease can take much longer than simply after being given the all clear. There’s no ‘Get out of Jail, Free’ card when it comes to moving on or returning to a version of normality. Furthermore, this is assuming that an all clear can be given in the first place.

My friend tragically lost her fight with osteosarcoma three years ago. We were both 16 years old at the time. Of course cancers and rare diseases affect people of all ages, but it was difficult to fathom how someone so young, who had so much potential to give to the world, could be taken away from us. The impact it had on all who knew her was irreparable. There wasn’t a specific way to prepare for it. In fact, there is no specific way in which one can prepare or strategise for living with a rare condition. Statistics are of little value when it comes down to dealing with the impact any disease can have, even more so when they highlight rarity. The unfamiliar labels and terminology can be passed around almost as if they were on a Scrabble™ board. If the tiles were a population of people, each letter T would be suffering from a rare disease. It almost seems like a game of luck, or avoiding the first strike whilst playing Battleship™. But we are not alone. So much support is available for people who have rare diseases, both young and old, from family, friends, charities and those working in healthcare. Scientists are gradually making progress across the chess board, each move bridging over gaps in our knowledge of these rare diseases. Not only are we learning more of the science behind the symptoms, but raising awareness on how they affect patients’ lives. The fight is a team effort. We continue with the hope that one day, we’re going to win.

[1] OED, adj.,1 (https://en.oxforddictionaries.com/definition/rare) Accessed November 2016

[2] OED, adj., 1.1 (https://en.oxforddictionaries.com/definition/rare) Accessed November 2016

[3] Rare Disease UK. About rare diseases. 2015 (http://www.raredisease.org.uk/what-is-a-rare-disease/) Accessed November 2016

[4] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 8.4a

[5] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 2.6a

[6] Emma Insley, Lori Streich, November 2015, Stand By Me

[7] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 8.1b

[8] Cancer Research UK, http://www.cancerresearchuk.org/health-professional/cancer-statistics/childrens-cancers, Accessed November 2016