Phoebe was born on 15th October 2000, after a happy, healthy pregnancy. She is our 2nd daughter and her older sister, Chloe, is 3 years older. Life went on, life was hectic but fun with 2 lovely girls and a busy admin job. When Phoebe was around 6 months old her nursery teacher questioned her development and after a family holiday, it was obvious to us that Phoebe was not developing the same as her sister had. Our Health Visitor agreed and we were then referred to our Paediatrician. That’s when our journey on the Special Needs bus began!

We quickly had a lovely team around us and a massive amount of support from friends and family. It was quickly decided that Phoebe was likely to have a chromosome abnormality because of some of her facial features, but it wasn’t until 2008 that our genetic consultant came round to tell us that Phoebe has Pitt-Hopkins syndrome. In reality, having a diagnosis is great but Phoebe will always be Phoebe and we love her just as she is.

“Phoebe went to a primary school that was able to offer Conductive Education sessions, which was great for us to focus on getting Phoebe as mobile as possible. She is not able to walk independently, but can weight bare, with support at her trunk – when she feels like it! That’s very much Phoebe’s thing and what she has taught us – it’s all on her terms.

As we venture into adulthood with Phoebe, she now attends a SENSE college, 3 days a week, on their education pathway, where we are hoping Phoebe will have more help with developing a communication programme, as this is an area she needs most help with. For the rest of the week, we have lots of fun fitting in swimming pool visits, dance classes, youth club, cinema and trips to the local country parks”

She is working hard with new communication methods but we know when she’s happy and when she’s sad. I read a fridge magnet in a shop that said: “If you can talk you can sing and if you can walk you can dance”. Sorry – NOT TRUE! Phoebe spends her life dancing and singing in Phoebe’s way and it is an absolute privileged to experience life singing and dancing with her every single day.


Sarah, Andrew, Chloe and Phoebe, Northamptonshire, UK