Mum 'devastated' after baby diagnosed with rare condition that may leave daughter unable to walk or talk

dailyrecord.co.uk:

A Kilmarnock mum has opened her heart after her daughter was diagnosed with a 'devastating' rare condition that may leave her unable to walk or talk.Emily Stuart was told days before Christmas that 10-month-old Pheobe, now 22 months, had Angelman Syndrome.The mum of two has now launched a fundraising campaign to help her daughter have intensive therapy session and to purchase specialist equipment.The 34-year-old first noticed something was wrong when her daughter wasn't meeting the usual milestones.Phoebe was born naturally at full term following a green pathway pregnancy.However, quite quickly it became apparent to Emily that Phoebe was having some difficulties feeding but was assured this would settle.Phoebe's feeding difficulties continued over the weeks and she was admitted to hospital where she was fitted with an NG tube.

She was later given some reflux medication and sent home.Fast forward a few months on, Phoebe managed to maintain her weight rather than lose but in the months that followed, Emily noticed that Phoebe wasn’t meeting the usual milestones , had a lack of head control, could not roll over and was unable to sit up.

Emily, 34, from Kilmarnock, said: "I always think a mother’s instinct is so important so I continued to put across my concerns to the doctors.

Her weight gain improved but her physical skills did not my concerns grew. "At this point, there were some conversations around cerebral palsy but an MRI wasn’t possible until 18 months so it was decided that Phoebe would have some blood testing done to check for some genetic conditions linked to her feeding difficulties."One week before Christmas, and a day I will never forget, I was given the devastating news that Phoebe had a rare genetic condition