Adelaide’s Story

As a very small baby Adelaide would make an unusual clicking sound often around feeding. It was discussed with health visitors and GPs but colic was suggested to be the reason behind these unusual behaviours. Adelaide stopped with these episodes somewhere between 4-6 months so her parents felt there was no longer an issue to follow up. However Adelaide was not hitting her expected age appropriate milestones and therefore, after trying first with the NHS, Adelaide’s parents paid for private genetic testing to be carried out for more answers. Four weeks after the bloods were taken for both Adelaide and her parents, they were given the name for the answers they were looking for: STXBP1.
And the unexplained clicking behaviours were in fact, infantile spasms (a form of seizure in babies).

Adelaide is continuing to make progress in her cognitive and physical development but is still non verbal and requires constant supervision to keep her safe in most environments. She has two brothers that both look out for her too and is loved by all that meet her. rienexpe

Adelaide’s parents say she is “so happy and pure sunshine in a little person”