Kai was diagnosed with PTLS when he was 10 months old. He has also been diagnosed with autism and intellectual disability since then.
Tell us about Kai’s diagnosis.
Could you please describe your feelings when you received Kai’s diagnosis?
When I first got the call asking me to come to the hospital as something had shown up in his blood test I initially felt a bit of relief as after months of feeling like no one was listening to me, I would finally have an answer. This soon turned to fear and I felt very anxious. The doctor couldn’t tell me anything about PTLS, I was just handed a page he found on Google. I was terrified and very upset. This was during Covid and the UK was in lockdown so times were already strange and difficult and now I felt even more alone. I tried to do as much research as I could but there really wasn’t much. I feared the worst and spent many sleepless nights worrying about my baby boy’s future.
Kai’s biggest struggle is and always has been eating. Even as a newborn I struggled to get any milk into him. I thought weaning onto solid food would help but unfortunately it didn’t. Kai now relies on a feeding tube for his food/fluid intake. This was scary at the time but it has changed our lives. Kai has global developmental delay across all areas. He was very late to meet any milestones and is still far behind his peers. He also has sensory and behavioural issues.
What Difficulties does Kai face?
What are your worries / thoughts for the future?
I worry all the time about the future - what is going to happen when I am no longer here? I also worry a lot about the lack of support and resources available for him especially when he enters adulthood. I worry about people not understanding him, about him being excluded and about him feeling lonely.
What kind of things does Kai enjoy doing?
Kai loves nothing more than being with his family. Despite not eating orally he loves going out to restaurants and sitting around the table with us all. He absolutely loves nursery and there he loves drawing, running and climbing in the garden as well as all the attention he gets from his fabulous 1:1s. Kai doesn’t play with toys the way a typical child might but he has his ‘things’ - plastic cups, lanyards, fake phones and loves to run around the house carrying these. He is also a huge Mickey Mouse fan!!
Why is research & a potential treatment for PTLS important to you & your family?
Research is the most important thing. Understanding this syndrome, why it happens, what it means, why it affects what it does would make such a difference to my and Kai’s lives. It would open up awareness, understanding and resources. I just want to know as much as I can about it to help me prepare for Kai’s future.
Anything else you would like to add?
Kai is the happiest little boy. He has a head full of curls and the biggest smile. He has a great sense of humour and an infectious laugh. I really am blessed and so lucky to be his mum