Seb’s mum Amanda tells us about his struggles with episodic ataxia type 1, and what a Specialist Ataxia Centre for children could mean for his care and his future.
“Seb is a determined, happy and mischievous seven-year-old boy with a wonderful level of empathy. He loves cooking, gardening, being creative and spending time with his brothers and friends. He also has episodic ataxia type 1.
We first noticed Seb’s ataxic episodes when he was 18 months old. He had numerous investigations and medical tests, and was finally diagnosed at the age of five. We’re still waiting for full genetic confirmation of Seb’s condition.
Life with ataxia
Meanwhile, without a specific diagnosis, treatments or a cure, Seb has regular ataxic episodes. They affect his ability to engage with us; they bring about high levels of fatigue, pain and insomnia. His ataxia also means that he has mobility difficulties and severe speech difficulties, along with moderate learning difficulties. The number of additional hospital and therapy appointments he needs mean we have to take time off work (although we never feel that this is an imposition), and his restless nights are hard nights to sleep through ourselves.
The things Seb has to deal with have certainly made him a determined and stoic young man; he has an admirable attitude to life, and expresses himself through what he wears (loud leggings and a vast collection of hats are his go to!). He is almost always laughing and smiling. But even so, when his ataxia attacks, it prevents him from doing what he wants to do. The interruption it causes in his development is heart breaking for us.
Seb’s current care
We don’t have many conversations with our GP about Seb’s ataxia; our GP doesn’t know a great deal about the condition. We have regular neurology and paediatric, speech, physio and occupational therapy appointments which are very helpful and we use a Facebook support group and Ataxia UK as other sources of information… but if a Specialist Ataxia Centre for children existed, Seb could potentially be well; could develop; could enjoy his childhood, without the barriers that ataxia brings.
It could help us tailor Seb’s care.
It could help us understand the development of his condition better, and find treatments that are effective now.
It could give us access to professionals who can answer our questions.
It could allow us to meet other families on this journey.
A breakthrough in ataxia research would help us know better what the future may look like for Seb, and potentially his children or his sibling’s children. It would bring hope.”