C l a i r e 's S t o r y
Beginning of symptoms
I first noticed something was wrong in early 2002, when I was 19 years old and taking a gap year. I was working in the IT department of a hospital and started to have periods where my hearing would fade in and out. It was most noticeable with people’s voices, particularly my own. Then I developed a feeling of pressure in my head, like it was being squeezed, and a flickering in my vision (most noticeable on plain surfaces such as computer screens, walls or the sky). I began to feel nauseous when trying to read. I saw my GP, who put me on Amitriptyline then Fluoxetine. Neither helped, so I asked to see a neurologist. My GP insisted on me seeing a counsellor first, to rule out stress or other mental health problems. Once I had the all-clear, I was referred to a local neurologist. He did some very basic tests and told me I probably had tension headaches and I should try to relax more.
Worsening of symptoms
Over the next two years, my symptoms got worse and I developed new problems, including eye pain, tinnitus, headaches and fatigue. I became unable to work and my daily activity was very limited. I had various blood tests, which showed mild inflammation but nothing else of interest. I saw another neurologist, who ordered a brain MRI. That came back okay, so he diagnosed me with ‘possible Chronic Fatigue Syndrome’ and suggested I try various low-dose antidepressants to help with the fatigue. I also tried some painkillers and discovered that I’m intolerant to many of them, including codeine and all opiates. I was experiencing more dizziness and nausea when sitting or standing and my urinary frequency (which I’d had since I was about 12) became worse. I had pain in my joints and muscles and reacted badly to heat. As heat intolerance is a symptom of Multiple Sclerosis, my GP referred me to another neurologist who carried out Evoked Potentials tests to check my nerves. These came back normal.
I had seen a number of opticians and optometrists about my eyes, but finally a specialist optician discovered some problems. My eyes jumped about as I read, partly due to weak muscles and also due to nystagmus in my right eye. I had problems with convergence and accommodation, making it hard for me to focus. He prescribed blue-tinted lenses, which reduced glare and made the flickering in my vision less obvious. I still found reading very difficult and even resorted to trying to learn Braille. One of my biggest problems at this time was boredom. It may sound trivial, but days and days of boredom can be really awful, let alone years. I was unable to read, use the computer or watch TV for more than two hours each day. I couldn’t exercise as the fatigue was so bad. I had brain fog, which made thinking, remembering and concentrating very difficult. I had to spend a lot of time resting and I really missed being able to read.
Trips to hospital
One day, I developed an infection and was taken into hospital with stomach pains and vomiting. I felt extremely dizzy and was desperate to lie down. A nurse took my blood pressure and told me it was so low she thought I was dead (hospital humour!). They wanted to keep me overnight and put me in a wheelchair to go up to the ward. I asked if I could lie down on a bed instead, but they insisted on the wheelchair. I struggled to sit up and had to be held upright by the nurse who was pushing me. When I tried to walk to the toilet, I collapsed and came very close to passing out (this is still the closest I have ever come to actual syncope). They gave me IV fluids and by the morning I felt much better. I was able to go home, but my symptoms persisted to a degree. For several weeks, I was unable to sit upright for more than a few minutes without being sick. I even had to eat while lying almost flat! I improved gradually, but it took months before I could sit or stand without feeling very ill.
I saw two rheumatologists, due to my joint pain, but their tests didn’t reveal anything useful. I saw an awful ME consultant who told me I had Somatoform Disorder and would probably continue to get worse and never get better! I saw an ENT consultant who discovered that my jaw pain and clicking was due to my Temporal Mandibular Joint popping out (subluxating) when I opened my mouth. He suggested some exercises, holding my jaw when I yawned (you need quick reflexes for that one!) and avoiding chewy food. I attempted a course of physiotherapy but had to stop when the very gentle exercise made me feel much worse. The physiotherapist wasn’t happy for me to continue until I had a firm diagnosis.
Looking for a cause
By this point, in 2008, I was struggling to cope with my worsening symptoms and the constant disappointments of ‘normal’ test results, which meant I was no closer to a diagnosis. I saw a counsellor who was very helpful and encouraged me to attempt to manage my condition by pacing and accepting the fact that I was now ‘disabled’. I attempted to carry on with life, with little hope of a diagnosis. My friend, who had recently been diagnosed with Lupus, introduced me to a website for people with ‘invisible illnesses’ (illnesses with no obvious visible symptoms). I became a member of the site’s Facebook group and was able to gain some support from other undiagnosed patients.
Then, one day, a lovely fellow patient wrote a post titled, “Read this if you have been told you have CFS/ME, but don’t think you have it”. I read it and was amazed to see how similar her symptoms were to mine. She had been misdiagnosed with ME, when in fact she had something called POTs (Postural Orthostatic Tachycardia Syndrome). At this point, everything changed!
I wrote to the girl who had written the post and described my medical history. She was particularly interested in my problems with standing, and said my infection may have caused a POTs ‘attack’ or ‘flare’. She suggested I get a heart rate monitor and do some tests. I got a cheap monitor from Argos and tested myself lying down, sitting, standing and walking. The criteria for a POTs diagnosis says the heart rate should increase by 30bpm or more when going from lying down to standing. My heart rate didn’t always increase this much, but it was frequently over 100bpm when I stood up and tended to increase the longer I stood. I was worried I would be disappointed yet again, if I pursued a diagnosis and got yet more ‘normal’ test results. I was also concerned because I had never fainted and many medical professionals (wrongly) believe that all POTs patients experience syncope. However, my friend was hugely supportive and I decided to go for it. She suggested I get referred to Professor Christopher Mathias in London, a POTs expert.
I was first referred to a local immunologist who specialised in CFS/ME and I told him my theory about POTs. He wasn’t sure about it but agreed to suggest my GP refer me to his old friend, Professor Mathias. My new GP was extremely supportive and very happy to refer me. I remember her saying, “This really fits your symptoms. I think we may have finally figured it out!” I saw Prof. Mathias in August 2009. He ordered a number of autonomic tests and a new brain MRI to check for other problems. Although my tilt-table test was relatively normal (my heart rate rose, but not by 30bpm), the 24-hour ECG showed episodes of POTs, particularly in the morning when my heart rate rose from 80bpm to 150bpm on standing! I was finally diagnosed, after 8 long years, with POTs! It was a huge relief. I finally had an answer to the question I was so often asked – “What’s wrong with you?”
As a direct result of my POTs diagnosis, I was diagnosed the following year with a connective tissue disorder called Ehler’s Danlos Syndrome Type 3 (the cause of my POTs) and a possible atypical form of Mast Cell Activation Syndrome. These illnesses explain all my weird and varied symptoms. I realised my dad also has EDS (it’s a genetic illness) and my sister has since been diagnosed with both EDS and POTs. Since my initial diagnosis, I have tried a number of treatments (such as steroids, increasing salt and fluids, lifestyle changes, and various other medications). I have made a lot of improvements and (despite occasional flare-ups) continue to improve every day. My eyesight and concentration has got much better and I am finally able to study again! I’m doing a part-time English degree with the Open University and looking forward to the future.