Bethany was born 10 days late and everything seemed fine, her head measured small at birth but within “normal” range.
We moved in October 2004 and Bethany had a 9 month check with the local health visitor who told us Bethany was delayed. Many tests and scans showed Bethany’s brain was small and her cerebellum was even smaller.
Her delay is severe, she is till very much like a baby, non-verbal and dependant on adults for all her needs.
Even more tests and scans over the years at Great Ormond Street finally found a diagnosis when Bethany was 12. CASK gene mutation, this gene is instrumental in brain development.
Bethany has had many struggles and been hospitalised on numerous occasions for different conditions as a result of CASK.
When she had chicken pox it developed into ITP and her platelet blood levels dropped dangerously low. She had dehydration, as it was very difficult to get enough fluid into her. She had a gastrostomy fitted in order to give her the right amount of fluids and meds and she was still eating mashed-up food.
She developed oesophagitis causing her to vomit blood and her gastro tube was changed to a jejunostomy tube. She is now nil-by-mouth.
The past couple of years has seen Bethany’s scoliosis become worse and she may need an op to correct it this year.