Imogen was born in 2011, she lives in Worcestershire and is the younger sister of Hannah, who was 4 years old when Imogen was born. The pregnancy and birth were completely normal and she was a beautiful baby! She took to breastfeeding straight away and loved to be close to me. She cried a lot if she wasn’t in my arms!
8 to 9 months
At around eight to nine months, we began to realise that although she could sit up, she was very unsteady.
She was still unsteady at a year and was not making the developmental milestones that are expected, such as crawling and babbling. She was very wobbly and could not sit in a chair safely. We became concerned about her development and I visited the GP, who referred her to a paediatrician. Imogen had blood tests, hearing and sight tests and many examinations. She also had a more detailed microarray analysis to check her genes, but all the results came back as ‘normal’. She didn’t receive a diagnosis, but her symptoms were described as ‘global developmental delay’ and ‘mild generalised hypotonia’ (low muscle tone). We began to receive visits from a physiotherapist and speech therapist, but they were very sporadic and we didn’t feel supported or that the therapies were making any difference. We felt alone and extremely worried. I used to compare her with friends’ children at toddler groups and could tell there was something causing her delays. Many people just said she would catch up, not many people acknowledged her difficulties which was hard.
By around twenty months, Imogen could walk with support, I spent hours walking around holding her hands! She eventually began to walk independently at about two and a half. However, it took her longer to independently stand up from the floor and pull herself up.
Imogen began receiving weekly visits from a lady from ‘Portage’ charity. She played with Imogen, encouraging her development and supporting us as a family. She was great, helping us navigate transitions to nursery and school.
Age 3 with her big sister
At three Imogen started attending a local nursery in the mornings and they allocated her a one to one worker. Babbling increased and she started saying a few recognisable words at around age three and a half.
Age 4 with her big sister.
At four, Imogen was a lot steadier on her feet, said many single words and started to combine three or four words. At this time, Imogen started at her wonderful specialist school. We had initially considered mainstream school, but didn’t feel that a mainstream setting could provide the individual support she needed. I am now really pleased we chose her school as she is making excellent progress and her teacher is extremely knowledgeable with regards to all the support Imogen needs. They can tailor her curriculum to her needs and give her plenty of attention.
Age 5 with her big sister
Imogen loves school, her teacher tells us that she is very enthusiastic and willing to take part in all the activities on offer. She can be very distracted though! If there is something going on in the room, especially if it involves music, Imogen’s attention will be drawn away from whatever she is meant to be focussing on. She can be very daydreamy and stares into space sometimes. Once her teacher questioned whether she has absence seizures. We raised this with her paediatrician who said that when she stares into space, see if calling her name will rouse her. We did this and she can be roused from her daydreams, so we know she doesn’t have these kind of seizures, she is just very dreamy!
Imogen has been diagnosed with a slight squint, meaning her left eye turns outwards occasionally, especially when she isn’t concentrating. She has regular check ups with an ophthalmologist, who says that her sight is fine and she doesn’t need glasses.
One of Imogen’s favourite things is water; both playing in swimming pools and in the sea. The beach is one of her favourite places and she could spend hours playing in the sand and jumping in the waves!
Imogen’s big sister Hannah is brilliant with her. They sometimes get grumpy with each other like most siblings do, but Hannah has lots of patience and they play together and have lots of fun.
Imogen is now 9 years old and was diagnosed with Pitt Hopkins Syndrome in April this year after having her genome investigated as part of a study at Birmingham Women’s Hospital. She is a very happy, funny, loving girl. She also gets very excited and happy about things too! Now she can talk in sentences and is increasingly understandable! She loves books and reads them all the time- she memorizes the exact words to all her books and from this has started to read herself (recognises whole words in new books). She knows all her letter sounds and can blend them together.
She loves music and singing and her favourite activity at the moment is playing CDs and singing along!! She does sometimes breathe a bit unusually (holds her breath for a while and then let’s it all out in a sigh). But this doesn’t cause problems. We have tried to toilet train, but have had mixed results!
She can get anxious about things sometimes. It helps to prepare her and talk through the days events in advance.
It has been hard, especially accepting how her life will be different, but I think the syndrome is part of who she is- she is on her unique path in life.