At 5 months, John Joseph suffered his first seizure. I woke to find his body convulsing and he was rushed to A&E where doctors worked on him for over an hour to try and stop the seizure. He was so poorly his veins were collapsing and doctors had to drill into his shin bone to get the medication into him. Every few weeks the seizures returned, only worse from the previous one. His second seizure was so severe doctors were unable to stop it and he was placed into a coma and moved to paediatric intensive care. PICU became a familiar place and each seizure in the first year of his life put him there. His longest seizure was around 7 hours, even sedation didnâ€™t help. I really thought we would lose him but then heâ€™d bounce back like nothing had happened.
The doctors had previously told us he was suffering from febrile convulsions and it was nothing to worry about. I wasnâ€™t convinced so did some research and came across Dravet Syndrome. A few months down the line we got our results which confirmed John Joseph had a mutation in the scn1a gene that causes Dravets. The diagnosis was devastating as is the prognosis. I felt like my whole world came crashing down.
We reached out to the charity DSUK and arranged to meet with other families at the annual DSUK weekend at Centre Parcs. Whilst we were there John Joseph suffered from a huge seizure and aspirated a large amount of sick into his lungs. He was moved into intensive care for a week, 200 miles away from home and it was the first time the doctors actually sat us down and told us he was so poorly he might not pull through, and to get family to his bedside. This was a horrendous time for us, he recovered after a long few weeks but was unable to swallow safely and is now completely nil by mouth and is fed through a peg. He lost the ability to walk and lost the few words he had but it was also a turning point. He was started on a new medication after this seizure which then saw him have 16 months seizure free.
Although the seizures have now returned his development has come along great, his mobility has improved and he can now walk and sometimes even run. He joined a special needs football group which he absolutely loves. However, itâ€™s a massive trigger for seizures so weâ€™ve had to postpone it for now. His seizure control is not the best right now but they are not as severe as they were when he was little. He amazes me everyday at how resilient he is, his little character and personality shine through it all.