This blog is about my sweet little girl, Imogen. During conception the end of one of her chromosomes (chromosome 3 to be precise) was lost, taking with it 99 genes, and leaving a trail of destruction that will effect her health, physical and mental development. This was a random occurrence that was as unpredictable as it is rare. Find out more about 3p25 deletion syndrome here.
Currently the effects on Imogen are low birth weight, slow growth, Epilepsy, Reflux, Ptosis (weak eyelid muscles), Polydactyly (an extra digit on each hand and foot that have since been operated on and removed) and development delays. We expect that she will be late in meeting all her milestones such as sitting, walking etc and many 3p25 children are non-verbal. We also expect her to have learning difficulties, the extent of which we won’t know until she is older.
We also know she is missing the Von Hippel-Lindau tumour suppressor gene and the ITPR1 gene that is responsible for a heightened risk of spinocerebellar ataxia 15 – a slow progressive movement disorder. Both of these missing genes mean she will receive screening regularly as she grows.
We are now on the journey to rewrite our lives, learn how to parent this amazing girl and make sure she has everything she needs to be the best she can be.
Through this blog I invite you to join us on the journey, to celebrate all of Imogens’ achievements.