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Family Story: Rachel and Connor

Last Reviewed 15/11/2019

By SWAN UK Member, Rachel

Hello, I’m Rachel and my son Connor is five years old. He was adopted at birth and has been living with us in his forever home since he was 15 months old. Connor has Global Developmental Delay as well as moderate learning difficulties. Genetic testing has revealed that he has a deletion called 22q13.1, but this diagnosis does not account for all his syndromic features, the cause of which remain undiagnosed.  

Connor is a cheeky, inquisitive, happy little boy with a contagious sense of curiosity. He loves the great outdoors and anything to do with tractors. He is our world.

Whilst professionals have always been involved in Connor’s care, we were only introduced to SWAN UK and the organisation’s amazing work a few months ago when Connor’s wonderful consultant paediatrician signposted us to the organisation.

Connor’s development has improved vastly during his time with us and we have been honoured enough to witness key milestones like him learning to walk and talk. These skills came to Connor much later than most other children and perhaps his biggest achievement to date is being discharged from community physiotherapy. Connor is hypermobile, so gross motor skills have always been tricky for him to master, but he never lets this deter him. The first time he made it up off the floor from a sitting position and when conquered his first few steps are two joyous moments that will always stick in our minds and fill us with pride. He was so pleased with himself and his smile definitely beamed a little brighter than usual on those days.

Connor’s most significant difficulties centre around his learning. Developmentally he sits almost three years behind his peers, which means that he is unable to access the standard curriculum. He struggles to interact with children his own age since he is at such a different level to them. Connor is still not fully toilet-trained. He also dislikes loud or unfamiliar surroundings which means careful planning is required when we go on days out. Connor can become overwhelmed very quickly and struggles to regulate his emotions when things get too much for him and he suffers from sensory meltdowns.

So far Connor has undergone basis genetic analysis and remains under a geneticist at our local hospital. We hope that in the future Connor receives a diagnosis so that we can learn more about his condition, and hopefully be able to help others with the same condition and create more awareness.

Given Connor’s background we were aware that his development was probably going to be disrupted, but we didn’t realise how significantly he would be delayed until he was three years old and still couldn’t speak.

We love Connor unconditionally, but there is a wider impact that comes with having a child without a recognised condition. We have found his lack of diagnosis to have the most impact on his education. So little is known about the specific nature of his condition which means that teachers and support staff struggle to implement tailored strategies and support. It became evident very quickly that mainstream school wasn’t suitable for Connor and sadly his placement didn’t work out. He has been homeschooled since.

Mixed emotions enter your head when you’re given genetic test results. It’s only natural for parents to want answers to those key questions: what does this mean for him? Will he be able to do X, Y and Z? And of course, the fundamental difference where a firm diagnosis can not be given is that the professionals can’t give you any of those answers. It can be a scary, uncertain and unnerving time. This is why organisations like SWAN UK are so crucially beneficial.

We wouldn’t change Connor for the world. We love him for who he is, but if I could wave a magic wand I’d like to know the answers so we could know what the best support for him would be. I feel like having a diagnosis would make this far easier.

SWAN UK have been incredibly helpful to date. The most valuable thing is that as a member you’re connected with other parents who know exactly how you’re feeling. A support network like this is vital. The website is user-friendly and provides an invaluable resource.

Connor has found an extended family within SWAN UK. And family is everything. Thank you.

Are you interested in sharing your family’s undiagnosed story? Get in touch with us: [email protected].

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