Isabella “Izzy”
Isabella lives in Denbighshire UK with Mum Leanne, Dad Andrew and big brother Thomas.
Izzy was born following a straight forward pregnancy, at term, very quickly (approximately 20 mins labour) at home which was a lovely surprise for us all! She was checked over by the on-call midwife who found no problems with her and we did not need to go to the local hospital. She was a beautiful contented baby who loved to be held and close to people. She had big blue eyes and blonde hair and lips to die for with a high cupids bow. Facially she looked very like her brother Thomas who was only 21months older. I was aware Izzy was a baby who liked to be loved, held and close to me all the time and became easily fretful if put down to play with toys. She seemed to struggle to maintain a sitting position and unsure and disinterested in toys as she has not yet developed a pincer grip to enable her to play with them. At 9 months we had her leg lengths checked to see if her hips were contributing to an inability to sit up. The health visitor referred us to the paediatrician as I had a “gut” feeling something was wrong. I felt Izzy was looking around her environment but not truly understanding or developing from it like her brother did. After being reassured “all children are different” and “she’ll get there in her own time” we went away with a review appointment in several months’ time. By the time Izzy was 1 year old it was becoming obvious that she was not hitting her developmental milestones, so we went back……
We were referred to a geneticist as the beautiful facial feature that I felt were unique to Izzy the paediatrician felt were ‘dysmorphic’ (a word I still dislike today!) This is where the long road started. Izzy was firstly tested for Fragile X then Angelman syndrome then Rett syndrome and lastly Pitt- Hopkins syndrome. Her PTHS diagnosis seemed like the end of our world. We were given medical papers on PTHS and as a nurse I read them and it literally felt like our ‘normal’ family life ended that day. We had some genetic counselling and testing and then discharged. We were now out in the big bad world with a little girl who had to fight to achieve the smallest milestones. We had/have a lifelong battle on our shoulders.
I found out more about Pitt-Hopkins syndroome and made contact with other families worldwide who had children with the syndrome. I found making contact with other families immensely helpful. They knew the road we were travelling. At this point, I also started fundraising to raise awareness of this ultra-rare syndrome!
Our lives became consumed with therapies, physiotherapy, hippotherapy, hydrotherapy, speech therapy, occupational therapy etc. At this point, overall I wanted and needed Izzy to be mobile. It was hard and intensive work from our family but Izzy began to develop a fight to want to move and at 2 ½ years Izzy took unaided steps but was still very wobbly! With help from a brilliant physiotherapist, this slowly progressed to unaided walking. Izzy walks well today but still wears splints and adaptive footwear to support her ankles which tend to roll inwards due to hypotonia.
Izzy also has very little interest in food/drink and needs assistance to eat due to poor fine motor control in getting a spoon to her mouth and weak chew, but we are working on that too!
Izzy’s development has always been progressive, just at a slower rate than typically developing children. She is now a very happy little girl who lives life to the full. She can still be apprehensive and anxious about new situations and sounds.
I believe Izzy’s biggest challenge is her communication. Currently, Izzy is non-verbal and she does not have a robust means of communication. This, unfortunately, leads to frequent frustrations in her behaviour and putting her wants and needs across. I would love nothing more than to have a mum /daughter conversation with her as I know she would have a lot to say!
Izzy now attends a special school which is fantastic and she has 1:1 and she receives daily ABA therapy. She loves animals, especially horses, trampolining, swimming, swing parks and generally being around people. Izzy is a joy to be around and adored by those who know her. Life is not always as straight forward for us as we had hoped but we strive every day to push Izzy to fulfil her potential and live a well-balanced and meaningful life. PTHS is now a syndrome we live alongside.