My name is Kaddy Thomas and I am an Apert expert.
Apert syndrome is a genetic disorder characterised by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
What makes me an expert? ‘A life-time of lived experience.’
I was born with Apert syndrome, as was my teenage son, Elijah. My own experience of this genetic condition is probably more typical of what life with Apert is like (although my childhood was anything but typical!). Elijah’s experience has been more complicated due to a brain injury sustained as a result of surgery when Elijah was 18 months old.
24/7 care and support
Elijah experiences a large number of health issues and challenges due to his brain injury. These include frequent lung infections and daily seizures. I often face difficult decisions about whether he needs to be admitted to hospital or whether his care can be managed at home. He needs 24-hour support from a large team of healthcare professionals due to his complex care needs.
Elijah’s Hope was born out of my lived experience
I set up Elijah’s Hope CIC after a particularly challenging time in our lives. Over a two year period, decisions were made and avoidable actions were taken, that had all interested parties communicated more fully and taken the time to sit around the table, may not have occurred. ‘It was a time when I felt I had no voice.’
Focusing on the good outcomes
The positives that came out of the negative experiences and challenges we faced are that I’m now stronger, more confident and more conscious of my decision-making.
I know I am a fantastic mother who is determined, focused, self-reflective and resilient. I take responsibility for my decisions and actions.
With this new found strength, I fought for Elijah to have a Personal Health Budget, which I manage. His life is so much different and better than it could have been and my son is thriving.
Apert syndrome and the broader picture
My experience, along with so many others, showed me how vulnerable those of us with Apert syndrome are. I wonder how many other families are going through similar experiences or who are struggling with a different aspect of life with Apert, such as preparing for surgeries or making your way in a world that tells us conventional beauty is everything. I now support children, young people and families affected by Apert syndrome via an online community, blog, social media, resources and signposting to available services.
If you would like to find out more about the challenges we’ve faced along the way or you’re interested in getting involved in Elijah’s Hope, please get in touch. I’d love to hear from you!