Emily B.’s story

Written by: Helen, Emily’s mom

Emily is our youngest daughter, born in the summer of 2011. Everything was perfect, none of the feeding issues we had with our first daughter and it felt like our family was complete. In hindsight there were early signs that all was not well. Emily slept for long periods during the day, often needing to be woken for feeds but, with a 2 year old also demanding attention, her laid back attitude was welcome! However, she was restless at night and her little jerky movements seemed to get more frequent and prolonged. I sought advice from the health visitors and from my GP and we used gaviscon to ease what we thought was reflux. One night the increase in movements and her distress led me to a+e. That first hospital stay lasted 10 nights. Emily endured a vast number of tests including a lumbar puncture and we learnt that she was having infantile spasms.  Emily went on to demonstrate a huge variety of seizure types, narrowly avoiding intensive care and an EEG showed severely abnormal brain activity.

Back home with a prescription for sodium valproate and a sketchy diagnosis of global developmental delay and delayed visual maturation, life became a blur of clusters of infantile spasms and seizure diaries. We didn’t dare to turn our backs for a second in case Emily had more seizures. She would cry out during them and they caused obvious distress. We did have seizure control for a spell and Emily made slow developmental progress but the seizures changed or caught up with the medications and we’d see regression again.

Several medication combinations and time on the ketogenic diet only brought temporary relief before clusters of seizures returned. We were desperate for answers and couldn’t understand why the doctors couldn’t tell us what was wrong or why.

Emily had video telemetry at Great Ormond Street Hospital to see if she was a candidate for epilepsy surgery. Unfortunately no focus for the seizures could be found so it was back to the treadmill of ever diminishing medication. There have been many downs over the years with cancelled plans, rescue medications, ambulance rides and one medication that took away her smile for almost two years. But we’ve found a way through with support from friends and family, the NHS, local support groups (Leeds Mencap, Little Hiccups and SWAN UK), the right school setting and housing adaptations.

Last October Emily had a VNS (vagal nerve stimulator) fitted and this alongside use of Clobazam as a rescue medicine for clusters of tonic clonic seizures is working quite well for the moment. However we are always worried this will change again and we are constantly on the look out for seizure changes or increased movements.

Whole exhome sequencing gave us our “what” and “why” answer in 2015 when we learnt that Emily has a de novo mutation in the GNAO1 gene. This is such a rare condition that we still feel very uncertain about Emily’s future. Emily is non verbal, wheelchair bound and gastrostomy fed (with some oral tasters- custard is a favourite!) She has the most beautiful blue eyes and a wonky smile and despite the worry and heartache her condition brings, she has enriched our lives in so many ways.|

It’s nice to be able to communicate with other families with the same diagnosis but all the children present so differently. We hope there be more research and knowledge will grow as more children are diagnosed. We had time to get to know Emily before her diagnosis and the understanding of the impact of the condition on our family has been more gradual than if we had got such a potentially devastating diagnosis during that first hospital stay. Families like ours need support both practical and emotional and I really hope the Bow Foundation is a big step towards this.

Roughly 50 people worldwide have been identified as having a variance on their GNAO1 gene. Through the Bow Foundation, we’re working together to share information and improve lives. Contact us if you’d like to share your story.

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