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Born in 2006


Kate was born on 10th July 2006 (her due date) following a perfect pregnancy. Her APGAR score was 10 / 10. She was our first baby and we were so excited for her arrival. We spent 2 nights in hospital and one full night at home. On Katie’s 4th day of life she started stiffening and I was concerned about this. I was assured by the midwives it would be reflux and nothing to worry over. However, that evening Katie experienced an episode which was more obviously a seizure. We rushed her to our local hospital where she continued to experience seizures. The doctors described her seizures as ‘tonic-clonic’ and as unseen in such young babies. Katie was given a lumbar puncture, CT scan and MRI scan yet no concerns were raised. Katie’s condition worsened and she stopped feeding so required a nasal-gastric tube. After a week we were transferred to Alder Hey, Liverpool’s specialist children’s hospital onto the Neuro-Medical Ward. Katie was prescribed a variety of anti-epilepsy medications which were not effective until she was prescribed a combination of Vigabatrin with Keppra. Slowly Katie’s seizures started to improve over a few months and her feeding tube was removed as Katie was taking a bottle. The Genetics team carried out hundreds of tests which were inconclusive, given the PACS2 mutation had not been identified at that point.


Between around 6 to 24 months Katie’s fits would come along in clusters and affect her feeding so we would need to return to hospital. Katie’s development was very slow and it was clear that she was not hitting her milestones. We tried many therapies including physio programmes, patterning and conductive education. We have continued with all with the exception of patterning. Katie attends a school for children with severe learning difficulties. She is very happy there. Unfortunately, Katie has not gained any independent mobility or any communication. Katie is very expressive through vocalisations and expression. She attends a specialist Conductive Education Centre weekly for therapy sessions which are so helpful and have built Katie’s strength and skills. Katie also receives private physiotherapy at home on a weekly basis. Katie also goes to Riding for the Disabled weekly which has improved her core strength. Katie has a gastrostomy for fluids as she used to struggle to drink the required amount but really enjoys eating but her food needs to be soft and mashed. Katie’s sleep was very much up and down when she was younger but she’s much more settled and ‘teenage’ like nowadays. Katie has a busy, happy life and has a younger sister and brother. I’m delighted to say she has not had a seizure since she was 5 years old. Katie is remarkably healthy with very little illness and no longer has spells in hospital.



• severe visual impairment (cortical VI & astigmatism)

• tonic-clonic seizures (fit-free for 11 years)

• hypotonia

• facial & hand dysmorphia

• hole-in heart as baby which self-corrected

• cardiomyopathy which self-corrected

• ongoing borderline long QT syndrome (cardiac)

• continued slight scoliosis of the spine

• severe learning difficulties

• severe fine & gross motor skill development

• No mobility or communication



• Keppra & Vigabatrin (ended 2010)



• Conductive Education

• Riding for the disabled

• Physiotherapy

• Standing frame

• Patterning (ended)

• Speech & language (ended)

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