Misunderstandings in Diagnosis
As part of the Ataxia Aware project we are sharing personal accounts of those suffering with Ataxia or other rare conditions. We want to provide a safe space for people to talk about their experience with disability, whether themselves or someone close to them.
We would like to thank Beryl Park, for sharing his inspirational story with us. If you'd like to know more about Beryl be sure to add her on Facebook.
Most of us are aware of how incredibly difficult it can be to get a diagnosis relating to a Neurological condition. It can also be incredibly difficult to get a diagnosis overturned.
Currently, I know I have a link with the mutant gene SYNE1, which in turn is linked to Recessive Episodic Ataxia. It’s worth mentioning here that some Episodic Ataxias are linked to Epilepsy.
Leading up to 1991 I started to experience Deja Vu episodes, although at the time I didn’t know exactly what these were, and my GP wasn’t really interested. Around the same time I experienced weird balance issues, particularly when bending, leaning my head back, and turning quickly.
All this came to a head when I had a seizure in my sleep, and I believe this was triggered by a severe shock I’d had the previous day. I woke up in hospital, my husband thought I’d had a stroke.
Tests failed to trigger a further seizure, but because of my history of Deja Vu, and taking into account the sleep seizure, I was formally diagnosed with Temporal Lobe Epilepsy in 1992, and obliged to take medication in order to continue driving.
As other weird symptoms including Eye problems crept in, I couldn’t believe they were simply all linked to Epilepsy. It’s been an uphill demoralising journey to get this diagnosis overturned, but ‘something’ was telling me not to give up.
The symptoms I experienced just didn’t make sense..double vision, Nystagmus, severe brain fog, stress when multitasking, and I could be totally overwhelmed by fatigue. My GP failed to associate these with anything other than Epilepsy, and I’d been discharged from the hospital Neurologist.
I saw an ENT Specialist privately, he dismissed me as being ‘hysterical’ when he had to abort tests, although he still still sent a bill. But the NHS eventually tested, and confirmed I suffered from BPPV (Benign Paroxysmal Posterior Vertigo).
The real turning point came when I started to experience unexplained falls, and my GP was forced to take some action. After a Tilt Table Test I couldn’t stand unaided, and fell about laughing, feeling really euphoric but obviously I wasn’t drunk. And an MRI showed some Cerebellar Atrophy.
My Eye problems started some time after I started Epilepsy medication, although at the time my concerns were dismissed by the Neurologist. But I went on to have a serious Eye condition, which left me with double vision, and I was also noticing Nystagmus. This led to years of treatment, but fortunately I was eventually referred to a brilliant Consultant Opthalmologist who finally banished the double vision with Strabismus Surgery. Although Nystagmus can still creep in if I glance quickly in a certain direction.
🙂 I count myself extremely lucky to have arrived where I am now. Ataxia symptoms are with me 24/7, they can be worsened by ‘triggers’ but experience has taught me how to deal with this, and currently I don’t take any medication. And, I’m still engaged in pursuing a definite diagnosis 🙂
On behalf of Ataxia and Me, I would like to thank Beryl for sharing her story of searching for the right diagnosis. Not only is her story inspiring but can be very common amongst the Ataxia community, as symptoms can often be misdiagnosed. Due to this, it is important to stay #AtaxiaAware.
If you would also like to get involved and share your experience with Ataxia or other rare condition, please get into contact with us through our social media linked below:
> Beth Soden - Media Coordinator for Ataxia and Me