Thomas was about 9 months the 1st time we noticed a seizure, although we didn't know it was a seizure at first. Thomas wasn't making his milestones, but this didn't worry us as he was our 1st child so everything was new to us. We then asked for Thomas to be referred to the child development centre. Within weeks he was referred to neurology and few weeks later we were told he had epilepsy, then global developmental delay. Over the years Thomas has had many tests and hospital visits. Specialists were convinced his problems were genetic but all tests were negative.
Thomas has displayed very challenging and, at times, aggressive behaviour so we were referred to LD CAMHS and then they decided to offer Thomas an autism assessment. At 8 years old he was diagnosed with autism.
Thomas's health and weight started to fluctuate but this was put down to his autism and being a faddy eater, then finally a result came back from genetics. Thomas participated in the DDD study which showed a mutation in the syngap gene. Thomas then got answers to his faddy eating problems, he was aspirating. It was decided that Thomas required a gastrostomy, but he also now has a problem with his stomach, so Thomas will be going into hospital next month to have surgery to fix his stomach and have his gastrostomy done.