Support and information Support services Your Blog Let’s talk about diagnosis… with Mhairi After being called a hypochondriac and an attention seeker by GPs, Mhairi finally received a diagnosis of episodic ataxia 27 years later. I have a genetic diagnosis of episodic ataxia type 2. My first major episode happened when I was 13 during a PE lesson at school (I now know that exercise is a trigger). Everything was spinning and I was violently sick. These episodes then happened after every PE lesson as well as at other times. The GP said it was a migraine (even though I never had a headache). For many years after I tried different migraine medications without success. Fast forward to my mid-twenties when my episodes took a different turn with double vision and being unable to walk for hours at a time, sometimes up to three times a week. More GP appointments led to me being treated, at best, as a hypochondriac, at worse, as an attention seeker. One GP even said to me: “So you’re saying that if this building was on fire, you would not be able to walk out.” I would have got out of that burning building, but it would have been on my hands and knees! I left that appointment and sat in my car and cried. Fast forward again, this time to age 34 when I was pregnant with my first child. My episodes escalated ten-fold and I was now ataxic (not that I knew that!) most of the time. It also affected my arms and speech as well as my legs. I had one of those episodes during an antenatal appointment and this was the first time any medical professional had seen me during an episode. They thought I’d had a stroke and kept me in hospital, arranging an MRI for the next day. The MRI didn’t show anything but I was then under the care of neurology for the first time. As the next few years followed, I was seen every six months and my neurologist would ask me about my symptoms, then perform a few standard tests (one of which showed I had nystagmus) and then have no answers. Then I came across a guy from California on the internet called Mark Dias (his name is etched on my brain). I don’t even remember how I came across him, but what he had written in his blog made the hairs on my neck stand up. He was describing me! Everything he said I recognised. He had episodic ataxia type 2. The more I researched the condition, the more I knew this is what I had, so I emailed my neurologist. I never heard back and at my next appointment he told me that he had read my email and it was quite “interesting”. He arranged for a blood test but the results didn’t come back for 20 months. Finally, the result showed that I had a mutation on the Cacna1a gene. I was 40. It had only taken 27 years! My mum also suffered all the same symptoms as me since her childhood. She died in 2008 at the age of 76 without ever being diagnosed.