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 which was diagnosed when she was 18; Jude is almost 18 and studying hard for his A levels which may or may not happen in this brave new world.  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 with you so that you can see the journey that has brought us to 2021. Laurie was born in 2001 and was our first child. The pregnancy was very straight forward up to the due date and in the end Laurie arrived 2 weeks late following a week of contractions through the night which didn’t pick up momentum and dropped off if I moved around. We suspect that Laurie was trying to get out but her lack of mobility hampered this. When she did arrive, she smiled on her first day and hasn’t stopped smiling since. She truly is the happiest girl I the world. She is very sociable and loves big hugs.

We had concerns for Laurie very early on. I had intended to breast feed but Laurie struggled to latch on, and after 2 weeks of her steadily losing weight the health visitor advised that we give up and give her a bottle. We also spotted straightaway that her toes were slightly abnormal so we paid to take her to an orthopaedic specialist within the first few weeks. He told us that it would only become apparent if it was a problem when Laurie started to walk so, ironically, to come back then. We kept a careful check on the child development milestones and Laurie failed to do any of them on time. She continued to be very happy and was no trouble at all. Laurie was joined by a new cousin when she was 6 months old and this reinforced how far behind Laurie was getting with her development as her cousin outstripped her at each stage. We regularly raised concerns but were told that we were being over anxious and that babies do things in their own time. At Laurie’s GP check at about 10 months the doctor was concerned as her head circumference had not grown sufficiently since birth so she was then referred to a pediatrician at the local hospital. He suggested that Laurie may have cerebral palsy and that she had developmental delay. This confirmed our suspicions that all was not well, but also gave us false hope as ‘delay’ led us to believe that she may catch up!

From here we were referred to a neurologist and the genetics team in Manchester. Neurology periodically took scans of Laurie’s brain to track development, and genetics took samples which were sent to various test centres around Europe, but tests proved fruitless and nothing came back positive. It did however rule out some debilitating syndromes which was good. We were also told that there was a high chance of any further children also having the same condition as Laurie which was worrying, as I was already expecting Jude. Thinking has moved on since then and we were recently told that this would not in fact have been the case. Brain scans showed that Laurie has a problem with her basal ganglia or messaging system, which indicated that physically she should be able to walk and talk but the messages from brain to mouth/ limbs was not getting through.

From quite an early age Laurie suffered occasional febrile convulsions. This has continues beyond childhood but is still temperature related so she does suffer from fits sometimes if she is unwell. This is controlled by Lamotrigine tablets. 

Laurie started physiotherapy and we enrolled her privately in a conductive education programme to see if this would help. Laurie had special boots to wear and later splints (AFOs) and she spent much time in a standing frame but all to no avail. We were also supported at home with a state programme called Portage which led to Laurie’s early entry to special school aged 2. Here she accessed PT, OT and SLT on a regular basis, until it became apparent that Laurie had plateaued with her skills and therapy was adding little value. Laurie does not speak, weight bear or stand/ walk. She can vocalise and has some simple signalong signs. She can be very noisy and has a very infectious laugh. Laurie has been able to represent her school in Boccia, and she enjoys weekly PT sessions in the hydrotherapy pool at school when it is open. Laurie loves music and we have paid for peripatetic lessons in school for her to play drums and keyboard. She loves to make noisy even though she does not understand musical notes, but she does have good rhythm.

Laurie leaves school in June this year, 2021, and we are currently visiting social care day placements for adults so that Laurie can continue to have a structure to her life and socialise with her friends. We have looked at independent living for Laurie but do not feel that she is quiet ready to leave home yet and we will continue to support her at home as long as we are able to.

In summary, Laurie’s difficulties are described as:

Four limb movement disorder with extrapyramidal and cortical spinal tract involvement

Automonic problems in lower limbs

Epilepsy

Sleep apnoea, improved after tonsillectomy and adenoidectomy

Poor peripheral circulation in both lower limbs

Doppler ultrasound not suggestive of any significant disease.

I hope that this gives a flavour of our journey with Laurie to adulthood.