Rosie turned 16 weeks old the day I took her swimming with a group of other mums. While in the pool I noticed her breathing seemed off, and something wasn’t right. We sat quietly at the edge of the pool and she slept for the rest of our swim session. When we got out of the pool she woke and was happy and smiling as I showered us both, and moved to a cubicle to dry and dress her. As I fastened her nappy I looked up to her face and immediately noticed something was wrong. She was stiff, mouthing, eyes fixed, pupils dilated, and her lips were blue. That day was the first time I’d ever needed to dial 999.
We didn’t know it at the time, but this was Rosies first seizure.
Epilepsy diagnosis
As weeks and months went by, we continued to see these episodes. We were in and out of hospital every 1-2 weeks, but only received the same explanation – “reflux”. She was taking Gaviscon, Omeprazole, Domperidone, and Movicol but none of these medications made a dot of difference. We begged her medical team to look more closely when at 6 months she had no use of her arms, was unable to roll, and had only met 2 milestones (smiles and laughter). We were knocked back again and again, with excuses of reflux and the comments that “development is fluid”. We pushed and pushed, and finally she had an EEG. The results supported an epilepsy diagnosis. She was 8 months old by this time.
From this point neurology were involved, and it became clear that Rosie had a syndrome consisting of drug resistant epilepsy, dystonia, hypotonia, hypermobility, and a significant global developmental delay.
A rapid exome, metabolic array, skin biopsy, and a whole genome study have all failed to find the cause of Rosie's condition.
Fast forward to now, and our little girl has just turned 3. We have all worked so hard over the past 3 years to help her reach her potential. She is crawling and pulling to stand. Cognitively she is similar to a baby of 6 months of age.
Her epilepsy is incredibly complex, and we have been hospitalised due to seizure activity 41 times in the last 12 months.
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