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Personalised care when living with a rare condition – Author – Katie Clarke-Day

My name is Katie and I am one of 300 million people worldwide diagnosed with a rare disease; in fact I have been diagnosed with six rare conditions. As today is Rare Disease Day, I would like to share with you some of my experience of navigating life with rare conditions.

Having a rare condition impacts you from the very beginning; for me it took more than 10 years and countless visits to various doctors before I finally got my initial diagnosis. The day I was diagnosed was a huge milestone for me, as finally someone understood me, and could label my pain. There were tears of relief and, for 24 hours, I was floating on air. Very quickly, however, the reality set in. I did my research and I quickly learned that it was a highly disabling condition and hard to treat. The reality is that, just because we had a diagnosis, it did not mean that the rest of the world understood me any better.

Family, friends, employers, colleagues, strangers, GP, pharmacists, physios, the DWP, paramedics and A&E consultants, amongst others, have all struggled to understand the condition. The treatments and the ways in which I manage and monitor my conditions are not part of a standardised plan that is easily recognisable in general medicine. At best this is frustrating and, at worst, life threatening.

I understand that not everyone will have heard of my conditions but I would appreciate it if those around me would value the time and effort that I have taken to become an expert in me, my conditions and my treatments.

After multiple visits to A&E, one of which saw me sent home, only to end up re-admitted just 48 hours later – the start of a week-long stay in a high dependency bed – I was given the opportunity to work with the lead consultant in A&E to develop a care plan. The plan clearly specifies the course of action on any subsequent visits, including the tests I need, the treatment course to consider and some of my more common complications. Alongside advice from other specialists, we agreed the threshold for calling an ambulance based on symptoms that I can monitor at home with a simple pulse oximetry, blood pressure cuff, blood sugar monitor and thermometer. Paramedics were particularly grateful that I was able to provide relevant information so together we could make an informed decision about my care. This led to reduced hospital admissions.

I have become the expert, not just in my own conditions, symptoms and treatments but in how to communicate this knowledge and expertise to others – allowing me to become a partner in decision making. This was very much an uphill battle with rare conditions but it is so crucial to develop a plan that is beneficial to both myself and valuable NHS resources. I have much more control, autonomy and time thanks to the personalised care I have been given, a key reason why I’m so enthusiastic about C4PC and our goal to make personalised care the goal for everyone.