Jacob was born with a rare genetic condition called NEXMIF/KIA2022, this causes Jacob to have a severe global developmental delay, learning disabilities and epilepsy.
As a baby we noticed Jacob wasn't hitting milestones – he wouldn't interact with people or play with toys, he couldn't hold his head or sit unaided. At around 4 months old Jacob was having clusters of seizures called infantile spasms. These were misdiagnosed for reflux until he was 8 months old, at that point Jacob was sleeping the majority of the day and lost the ability to smile or giggle. He was put on an intensive cause of medication and we managed to control them. After this we were sent for Genetic testing and when he was around 3 years old we got his diagnosis of NEXMIF.
Jacob was like a newborn baby at 9 months old, we had a meeting with Jacob's Doctors and specialists who advised us 'not to expect much' from Jacob's future. It was that moment I made it my goal that he would prove them all wrong and that's exactly what we have done!
Fast forward to now and Jacob is the happiest loveliest little 5 year old. He loves everyone and everything... water, grass and nursery rhymes especially! He has learnt to walk but needs a lot of support – he cannot walk outside or far, he cannot do stairs either...BUT he walks around his home and school happily and he loves it! Jacob is non verbal but is a keen Makaton signer! He is learning more and more everyday! Jacob's smile can fill a room with sunshine, his giggle is infectious and his loud, flappy, quirky ways makes everyone fall in love with him as soon as you meet him!
He is our little superhero and we couldn't be prouder of him!