Let’s talk about diagnosis… with Leeann and Kieran – Ataxia

Let’s talk about diagnosis… with Leeann and Kieran

Let’s talk about diagnosis… with Leeann and Kieran

It took three years to get an ataxia diagnosis, and it wasn’t until Leeann found Ataxia UK that she felt Kieran and her were supported.

When Kieran was nearly four years old, I noticed that he didn’t have the same stamina as his cousins. Kieran was also having trouble climbing over play equipment, so I enrolled him at gymnastics, hoping this would help. Within a few weeks, Uttoxeter Gymnastics had commented on his lack of co-ordination in some areas and discussed their concerns. I monitored him for a while longer, then took him to the GP.

The GP asked Kieran to walk across the room and said he was fine, just delayed; he would catch up. I insisted on a second opinion. We saw the paediatrician when he was four and half. He had x-rays, a CT Scan and blood tests, but it all came back negative.

After a few months of physiotherapy and a review a year later, we were discharged. I wasn’t convinced but trusted the doctors.

When Kieran was six years old, I noticed he’d become clumsier but, as we were discharged, labelled as clumsy, I wasn’t sure if I was being overly cautious. Then his amazing, year one class teacher noticed him falling more and bumping into furniture at school, so I asked to be seen again.

A further seven months of investigations, blood tests, and an MRI scan all came back negative: he was baffling the clinicians as to what was causing his balance and co-ordination problems.

Kieran had an electric nerve conduction test that subsequently revealed problems with Kieran’s nerves sending messages though his body. Up until this point nobody had mentioned any possible diagnosis, but it was thought he had Charcot Marie Tooth (CMT). More blood tests were taken and more waiting, when eventually, a diagnosis of Friedreich’s ataxia was confirmed; nearly three years after first visiting the GP with our concerns.

For months, I was convinced he had CMT, that was the only thing that seemed to fit. It couldn’t be FA, as it is genetic; nobody in our family had ever heard of it. So, when I received the diagnosis (on the phone in Tesco as I was so desperate to know the answer), it came as a complete shock; the more I read about it, the more petrified I became. I was scared for his future, or lack of it.

At this point, the clinicians who had diagnosed Kieran, hadn’t actually had any patients with FA or knew any families around the area. I felt totally alone.

Eventually, after finding Ataxia UK and going to their Annual Conference; meeting with a couple of other families and the online support groups that I had found, I realised that anything is possible, if you stay positive and live the best life you can. My mission now is to provide Kieran with everything he needs to help make his life easier for him, live his best life and have as much fun as possible.

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