Laurie’s Story
Greetings from the North West of England, UK. We are the Ashcroft family—Cathy, Martin, Laurie, and Jude—and we are based midway between Liverpool and Manchester. Laurie is 19 years old and has the MAPK8IP3 gene variant, diagnosed when she was 18; Jude is almost 18 and studying hard for his A levels. Our children are like chalk and cheese, but we love them both dearly, as they love each other.
We would like to share a bit of background so you can see the journey that has brought us to 2021. Laurie was born in 2001 and was our first child. The pregnancy was straightforward up to the due date. In the end, Laurie arrived two weeks late following a week of contractions that did not pick up momentum.
When she arrived, she smiled on her first day and hasn’t stopped smiling since. She truly is the happiest girl in the world. She is very sociable and loves big hugs.
We had concerns for Laurie very early on. She struggled to latch on while breastfeeding and lost weight, so we changed to bottle feeding. We also noticed that her toes were slightly abnormal and consulted an orthopaedic specialist. Laurie missed her developmental milestones, although she remained happy and easygoing. At around 10 months, her doctor noticed that her head circumference had not grown sufficiently and referred her to a pediatrician, who identified developmental delay and possible cerebral palsy.
Laurie was referred to neurology and genetics in Manchester. Brain scans and genetic testing ruled out some serious syndromes, but did not identify a cause. Later scans showed an issue involving the basal ganglia or messaging system, suggesting that messages from the brain were not reaching her mouth and limbs effectively.
Laurie experienced occasional temperature-related febrile convulsions, controlled with Lamotrigine. She began physiotherapy, conductive education, and used special boots, AFOs, and a standing frame. Portage support helped her enter special school at age two, where she received physical, occupational, and speech therapy.
Laurie does not speak, weight bear, stand, or walk, but she can vocalize and uses simple Signalong signs. She has an infectious laugh, has represented her school in Boccia, and enjoys hydrotherapy, music, drums, and keyboard. She loves making noise and has a good sense of rhythm.
Laurie leaves school in June 2021. We are visiting adult social care day placements so she can continue to have structure and socialise with friends. We have explored independent living, but do not feel she is quite ready to leave home. We will continue supporting her at home for as long as we can.
Laurie’s difficulties include:
• Four-limb movement disorder with extrapyramidal and corticospinal tract involvement
• Autonomic problems in the lower limbs
• Epilepsy
• Sleep apnoea, improved after tonsillectomy and adenoidectomy
• Poor peripheral circulation in both lower limbs
• Doppler ultrasound not suggestive of significant disease
I hope this gives a flavour of our journey with Laurie into adulthood.
