Our February warrior Agnes – running her own race

Our February warrior’s story is written by her mum, Elle
Our lovely daughter Agnes was born in March 2021 after years of trying to conceive. That October she began doing strange movements, and after a few days of worrying and a late-night Google of her symptoms, we came across the UKIST video and headed straight into A&E, armed with videos of her mysterious ‘shrugging’ episodes. We were lucky that our local hospital has an excellent children’s neurology department and after an MRI and an EEG Agnes was diagnosed with Infantile Spasms and began treatment within a week of her first seizure. She was on vigabatrin and prednisolone, and we found those first few weeks incredibly hard, dealing with the uncertainty of her diagnosis and the horrible side effects of the medication: she stopped smiling with the steroids which made everything twice as difficult and her little face puffed up until she was hardly recognisable. We spent four months in strict isolation from friends and family because her immune system was reduced to zero.
We all underwent genetic testing which told us that Agnes had a chromosomal abnormality, a deletion at 16p.13.11. Neither myself nor my husband had the same abnormality so it seems to be a random occurrence (although we are currently awaiting further DNA testing to confirm this). This abnormality has been associated with autism, ADHD, various epilepsies, delayed development, learning difficulties and various other conditions. They don’t know if this is what caused her IS.
Agnes finished her vigabatrin treatment in August 2022. At the time of writing, she is about to turn two. She can’t talk, stand unaided or walk and has been diagnosed with a global development delay. She’s also showing some early signs of autism, but we haven’t sought a formal diagnosis at this point. It’s really difficult having a child of her age who can’t communicate. We see other children of her age and are amazed at their language skills, and have to actively stop ourselves trying to compare her to them. ‘She’s running her own race’ has become something we tell each other often. Despite this, I think we all find it a bit frustrating at times, especially Agnes. She sometimes hits, bites and pulls hair, which we think is a sensory thing, but the majority of the time she’s an incredibly happy, smiley girl. She hums and flaps when she is excited and gives herself a round of applause for the slightest things. She loves swimming and splashing in the pool. Her favourite game is ‘where’s daddy?’ and she shows understanding of new words and phrases quite regularly, despite not being able to communicate herself. When she first came off her treatment, I was worried that she might never be able to play ‘properly’ with toys. She mainly loved knocking over towers we built or throwing toys on the floor. However, now, a few months after she stopped treatment, she loves building towers (the taller the better), popping bubbles, playing in the bath and story time with daddy. We’ll soon be starting private speech therapy and have been referred for physio, so we’re excited to see what these new things might bring.
We don’t know what the future holds for Agnes, and the main thing we’ve learnt about IS is that no two cases are the same – you can see that just from reading the warriors articles on this page. But the UKIST support group has been a lifeline for us during difficult times, and it’s so good to know we aren’t alone on this journey.

Our tips for parents of newly diagnosed children would be: –

  • Try not to compare your child to other children, both inside and outside of the IS community. Each child goes at their own pace.
  • You will probably need to advocate for your child and push hard for support and referrals etc. it can be really difficult but try not to lose sight of why you’re doing this – to help your child reach their potential, whatever that might be.
  • Enjoy the moments you have with your child. Small milestones make for massive achievements which are worth celebrating, so try not to get too bogged down with the diagnosis and appreciate the little things.
  • Accept all the help you’re offered and get referred for portage if you can, it’s been a great help for us.