The Reality When Rare Disease Day Is Every Day
When I was diagnosed 7 years ago, it had been an eight year battle up to that point. The reason for the delay in getting a diagnosis, I was told, was that they were rare conditions. Few doctors were qualified to diagnose them, and no structures were in place to educate first line practitioners to recognise the signs and symptoms.
Ehlers Danlos syndrome (EDS), Postural tachycardia (PoTS) and Mast Cell Disorder (MCAS) were the trifecta of comorbid conditions that took away my teenage years. Seven years ago they were ‘rare’, now? Not so much. Disproportionately affecting young women, with no blood tests or scans that can be done to ‘prove’ the diagnosis, my story of gaslighting, minimising and healthcare trauma is a story reflected in many diagnosed with these conditions.
SIC founder and CEO, Rachael Mole, sat at a table. She is resting her chin on one hand and is smiling at the camera. Behind her is a large window which looks out onto a garden.
“I wonder how many other rare conditions there are which are actually just rarely diagnosed?”
The impact of having what was then a rare disease was threefold. First, I was denied access to healthcare, and gaslit to believe I was making up my symptoms, that they weren’t as bad as I was making them out to be. This led to developing a trauma around healthcare that I still live with today.
Second, due to not having an official diagnosis, systems within education built to support disabled students were not available to me. I was unable to continue with my education post-GCSEs, and my value to society went from ambitious young woman to lazy teenage attention-seeker. I went on to do a degree with The Open University, studying in bed and on the sofa for three years around my energy and pain disability. However, the impact of not being able to access ‘proper’ education still impacts me to this day, including recently being denied a place on a Masters Degree in disability studies on my first application (later reversed.)
Third, the impact that went on to shape my career – the unavoidable nature of needing to become an advocate, educator and representative. When you meet medical professionals, and you know more about the biology of your condition, you realise that only you have the ability to advocate for your health. When you meet new people, friends, colleagues, you have no choice but to educate and advocate for your access needs. This can be the difference between thriving, and being sent into a tailspin of a flare up that could last for months, if not years. When no one around you understands what you’re going through, you have to be your own champion.
“When no-one around you understands what you’re going through, you have be your own champion.”
Now, with the diagnosis rate of these three conditions improving, we are starting to see what happens when funding, education and knowledge of rare conditions moves mainstream. (With MCAS is still very hard to get an official diagnosis, and classed as ‘rare’, however this may move towards ‘rarely diagnosed’ rather than ‘rare condition’ over the next few years as more studies are being conducted in this area.)
The impact of faster diagnosis cannot be emphasised enough as a key factor for improving the lives of chronically ill people. While in the pre-diagnosis stage, your life becomes an inaccessible limbo. Though we (the UK) like to say we live in a social model of disability (where medical diagnosis is not a barrier to accessing society), for many disabled people, it is the medicalisation of disability and ‘proof’ that is required which dis-ables so many from being able to access education, work and wider society.
This Rare Disease Day, I am encouraged that we are hearing more and more about disability, health and recognising the impact that disability has on our society.
Written by Rachael Mole, CEO