James was born in January 2005 after a uneventful pregnancy and birth, we had no concerns about him until we realised he wasn’t reaching the usual developmental milestones. He didn’t sit unaided until he was well over a year old, he was 3 years old before he crawled and he took his first steps aged 6 and a half, he still doesn’t speak, although occasionally he will say what sounds like “more” in the right context and has been known to say “mum” too. He had many tests over the years but it wasn’t until July 2012 that we found out the reason for his difficulties was Pitt-Hopkins Syndrome.

 He developed breathing issues just before his 8th birthday (hyperventilation and apnea) and started having seizures a few months later, luckily after around 18 months of daily seizures, we now have them controlled with medications and he hasn’t had a major seizure in 3 years!

James is a happy, excitable boy who makes everyone fall in love with him. He loves music, being outside, watching trees blow in the wind, looking at books and watching his favourite DVDs. We are now just entering the teenage years so wish us luck!