Let’s talk about diagnosis… with Kelly and James – Ataxia

Let’s talk about diagnosis… with Kelly and James

Let’s talk about diagnosis… with Kelly and James

After being made to feel like a bad parent by dismissive doctors, Kelly finally learnt that James has ataxia, but they are still without a confirmed diagnosis.

After nine months of wrong referrals to medical professionals, James finally had his first brain scan at three years old, which discovered that his cerebellum is smaller than it should be. We have been pushing for James’ diagnosis since he was two years old, he is almost 10 now and we are still not there. 

I realised something wasn’t right with James’ gait and speech very early on, but medical professionals sent us back and forth, claiming that he would grow out of it. James had his own way of walking, but he fell over constantly. He also could not speak. I mentioned this at all of his appointments with health visitors, but they told me it was ‘fine’ and ‘normal’ for his age. Despite this I was concerned and took James to the GP at 20 months old, who told me ‘he would grow out of it’. So that was that.

Then, when James was two and a half years old, he fell over and we had to go to A&E. I was made to feel like the worst mum in the world. The A&E doctor said there was clearly something wrong with James’ walking gait and speech. I explained what the doctor had previously told me, but he said he couldn’t refer him to a neurologist and we would have to go back to the GP.

We returned to the GP and she told me ‘all two-year olds fall over’. I begged her to watch James walk because I knew there was something wrong. She asked him to walk in the corridor and he fell as he turned at the end of it, she had a clear look on her face that something wasn’t right. We were then referred to a bone doctor, then a physiotherapist, then to our saviour – Dr Suri at Rotherham Hospital and finally to Dr Baxter, a Sheffield neurologist. We spent nine months being passed back and forth, thrown around in wrong referrals.

When we first got James’ brain scan results, Dr Baxter told us about ataxia. We don’t know the long-term prognosis for James as we still have no diagnosis. We visit the Ataxia Clinic in Sheffield and see Dr Mordekar every quarter.

We have tried everything. We asked if they could put us in touch with any other families who are suffering similarly to us, but they said everyone who has it is different and there is so few children. We are alone in this, and I worry every day for what his future will look like. 

James doesn’t understand what ataxia is but he knows that he is wobbly and different to other children. He gets frustrated when people can’t understand his speech and the older he gets, the more anxious he is about it. Once when we were camping and James tried to make friends, they ran away because they didn’t understand him. On the same trip his four year old sister had to introduce him to a Children’s Entertainer as he couldn’t understand James when he said his name. It’s heart breaking.

We have found some ways to try understand James’ speech, such as charades, but this doesn’t always work. Every day is different; some are good, some are hard and others are horrendous. It’s difficult to know whether the decisions we make him for now are the right ones, and there is a lack of people to speak to who have experienced the same. Recently, during home schooling in lockdown, he misbehaved and got angry with himself and kept repeating ‘James is bad’ (because he’s different). It’s difficult being alone and powerless to do anything.

He is very rarely naughty and his attitude to school work is excellent, but he does struggle to read and write, and has an electronic communication aid to help him form sentences. He loves the same virtual games as his friends and the outdoors, especially the beach, but insecurities due to his condition means he often asks to stay at home.

We have tried everything that the doctor has suggested, but nothing has improved James’ condition. We have been waiting for the results of genetic testing for around two years. We have become a Friend of Ataxia UK and also joined the Ataxia UK Sheffield Branch.

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