So in December 2016 we were a happy family with a bonny, very cheeky 6 month old boy who was rolling, sitting and laughing. After a cold and seeming under the weather Josh kept falling over and we laughed at how silly he was for forgetting to sit.
Fast-forward a couple of weeks and he couldn’t sit, roll and just looked so sad. He then started forgetting to hold his head up, which then became more frequent. We visited the (locum) GP who dismissed it as a virus and an over-anxious Mum. That evening, Josh had a series of these head drops and was really distressed, we reached out to a paediatric doctor friend who advised us on the next steps.
We were then admitted to hospital for Infantile Spasms where Josh underwent various tests – blood, urine, lumbar puncture, MRI, EEG, black light. He was soon diagnosed with Infantile Spasms which wasn’t explained to us, then on rounds a new doctor basically told us he would never lead a normal independent life. We were crushed.
Josh was treated with high dose steroids (Prednisolone) and within 24 hours his spasms had dwindled, he was smiling and sitting. It was truly unbelievable, many nurses coming back on shift were shocked by his transformation. We now know, we were blessed that Josh responded so well and so swiftly. Within a week we were discharged with a steroid (‘hangry’) baby who was drinking milk like it was going out of fashion and not sleeping that well.. but on the whole he was a happy chap!
Over the next 6 months, we realised perhaps the initial long-term diagnosis was incorrect. Our epilepsy nurse proved herself to be an absolute god-send. Josh was on Epilim to keep the spasms at bay and will be until he is 2 years seizure free.
Since then, we have lots of appointments to check his eyes, bloods, development, EEGs and have done lots of learning ourselves about advocacy since then. We now know about pushing and not being embarrassed to tell people to stop or change their approach.
Josh is liable to absence spasms when he is very unwell with a high temperature, however on the whole he is doing well. His development is on track, he can say around 10-15 words and can walk. He is social, cuddly and his motor skills are bang on.
Josh recently has had some bruising due to a borderline low platelet count otherwise it is just regular monitoring appointments for the future which we are incredibly grateful for.