Sophie R's Story

I went from feeling on top of the world and running half marathons, to taking 9 months off work because I had become so ill.  I suffered from seizures, weight loss, and allergic reactions, my hips started to dislocate whenever I walked, and I would experience cold and numb sensations all over my body. My diet was limited to a few vegetables and rice, I was having frequent reactions to environmental changes such as thunder, fragrances and smells, exercise, and hormonal changes. My symptoms grew to include random nose bleeds and severe migraines, as well as muscle spasms. Throughout the next three years my health severely deteriorated, leaving me terrified, but I was frequently dismissed by health professionals and people around me as being anxious, hormonal or depressed. 

In my search for a diagnosis, I was tested for lupus, lymphoma, suspected brain tumour, sarcoidosis, and many more. With none of these giving us any answers my GP couldn’t work out what was wrong, and I spent those three years going to hundreds of different appointments with many different doctors; I felt I'd hit rock-bottom the day I became hysterical during an appointment, only for the doctor to agree, but I was referred to a cardiologist after this appointment. When I eventually saw a cardiologist, I collapsed in front of him and was quickly diagnosed with Postural Orthostatic Tachycardia Syndrome; it was such a relief to finally be believed and have a name to describe what I was experiencing. Despite being able to diagnose me, the cardiologist referred me to a Neuro-Cardiologist for treatment, but the wait for an appointment was going to be a year. Thankfully, my parents were able to support me enough to fund private appointments. 

My private consultant was fantastic, and it was so encouraging to finally be taken seriously and tested thoroughly. I was then privately referred to rheumatology and immunology - during my private appointments I was finally diagnosed with EDS and MCAS. I believe that if I hadn’t fought for better treatment and didn’t settle for a Chronic Fatigue diagnosis, I wouldn’t have been diagnosed with any of the conditions I have because they were not well recognised, accepted, or catered for by the NHS.It was both a relief and terrifying to be diagnosed because of how poorly recognised they seemed to be, and because of the attitudes towards getting support. I could still walk, but the second I’d stop I’d collapse, and I was told don’t get a wheelchair because “you’ll never get out”.  At that point I was still managing to work but was having daily black outs; my colleagues would just pick me up off the floor and carry on as though nothing had happened. 

It took an enormous amount of tenacity and money to finally get diagnosed. I was 'lucky', it takes many patients decades of needless suffering before they are diagnosed. 

 

Treatment was very long and continues to this day; my private immunologist was fantastic at creating a plan. I had no idea of the complexity of MCAS and that it was likely responsible for a whole host of my symptoms like the blackouts, angiodema, brain fog, rashes, reactions to any pressure on my skin, and inability to cope with any noise, sickness, and stomach issues. Within a year of treatment I was able to sit up again without blacking out and some of my symptoms were reduced. After 4 years of trying different medications for my conditions, I now have somewhat of a balance. I am able to stand most days and have more energy, but It is still a daily battle.  

The worst memory I have is when I collapsed at a train station and not only did no one help, I was kicked. After 45 minutes of shaking and being extremely unwell a lovely woman who worked for the NHS came across me and phoned an ambulance. Despite my challenges I am happy to have more normality in my life, and I am able to run my own business!  I’d like my experiences to show doctors that ‘difficult’ patients with long and unusual medical histories, deserve to be believed and fought for. The right specialists have literally changed my life and given me a future - I can't thank them enough. 

My husband has also recently been diagnosed with MCAS, after becoming very unwell and having all sorts of allergic reactions which prevented him from exercising and really restricted his diet. It's been a bizarre time navigating all of this for a second time! We are both currently stable and training to do a 120km trek in September from Portugal to Spain, because we want to raise money for Mast Cell Action and raise awareness of MCAS. In a world where this condition is so poorly understood, diagnosed and recognised, it's vital to fund Mast Cell Action so that hopefully in another 5 years time there will be wider understanding and NHS treatment available. Training has been fun, but we are both mindful about pacing ourselves and listening to our bodies, and it has been really helpful for us both to have such an ambitious goal. Fundraising makes me feel like I'm making a difference and giving back and hopefully helping people who are just starting their journey towards a diagnosis. 

A decade ago I couldn't stand or eat and now I'm doing the biggest physical challenge of my life.