Hi, I’m Claudia, mum to three very busy, energetic, happy, loving boys. Broden, the eldest, is 13 years old, Chase is seven and Trent, our SWAN, is six.
We are lucky with Trent. He is generally a happy, easy-going boy. As long as he has his Paw Patrol on his iPad he is happy and content. He is non-verbal but is able to show us in his own way when he needs something like his formula or a specific toy. Trent doesn’t ‘play’ with us much but when he does he has a cheeky personality and a giggle that has us all giggling along with him.
It took a little while for us to find out about SWAN UK. We had two diagnoses which were discarded before we started a discussion about the potential of never finding a diagnosis. Even then we still weren’t told about SWAN UK – I happened to come across it while researching online.
Trent’s biggest accomplishment to date is learning to walk. He only started walking when he was three and a half years old and we didn’t think or know if he would walk. As I mentioned before, Trent is non-verbal, which does make it difficult when we can’t work out what he wants. His autism becomes a ‘problem’ when we are out in crowded or noisy places, but perhaps the most significant of his issues is that he doesn’t eat. Trent gets his nutrition from a formula, but he won’t take a bottle of formula if we are away from home, which means we can’t be away from the house for a full day otherwise he doesn’t get any food or nutrition.
In November 2015 Trent was entered on the 100,000 Genomes Project by his neurologist. Myself, Trent and his dad attended an appointment at Southampton General Hospital where they took a blood sample from us all. That was in November 2015. We received a ‘nothing found’ result in January 2018.
Being entered on the 100,000 Genomes Project was brilliant as it gave us hope when we were told there were no more investigations that could be done. We were so grateful. We were hopeful that the results would give us an explanation as to why Trent is like he is and whether there was anything specific we could be doing to help.
Having a child with an undiagnosed genetic condition has a positive and negative impact on our family. Firstly, it has been a blessing as it has taught us true unconditional love and understanding. It has taught my other two boys that it is okay to be different, and that no two people are the same. The negative is that we are restricted with what we can do as a family and where we can go. Broden and Chase are really supportive but I know they are sometimes disappointed that there are certain things we can’t all do together as a family.
In the beginning we were scared and confused. We couldn’t understand how in this day and age the medical professionals still couldn’t tell us what was wrong with our boy. It’s hard to say whether a diagnosis would make things easier for us. It would hopefully give us an answer as to why Trent is the way he is and maybe there would be something we could be doing differently to help him more. But then again maybe not, maybe it wouldn’t answer any questions and wouldn’t change a thing.
The trickiest thing about having a child with an undiagnosed genetic condition is not knowing if what we are doing is good enough. It’s also really tough trying to explain to people that there are children who are undiagnosed. It’s so difficult when we are trying to get some help to have to explain that he needs the help, but doesn’t have a diagnosis to explain why. It’s also really difficult to have to explain to family and friends that he won’t grow out of it.
The best thing about this journey so far is what we have learnt. We don’t have any people with special needs in our family so this world was completely new to us. Learning what we have learnt is amazing. Meeting other families with children like my Trent and getting the opportunity to talk to some amazing doctors, therapists and geneticists has been great.
Sometimes I do get worried about the future. Because we don’t know the cause of Trent’s condition we don’t have a prognosis. Will he get ‘worse’? How much will he change? Is there a chance that his brothers’ children could have the same condition? At the same time I am excited about how much science is progressing and how much we are learning every day.
The best thing about being a member of the SWAN UK community is the support. Non-judgemental, truly understanding support. After being a member for a little while I decided to become a SWAN UK Parent Rep and I enjoy giving talks about SWAN UK and my experiences of life with a child with no diagnosis. I love having the opportunity to give back and having a chance to let the medical staff know that they are amazing and remind them why they are doing what they are doing.
To have the support from a nationwide community like SWAN UK 24 hours a day is so comforting. Knowing that they truly understand and have no judgements, just support and encouragement is amazing. Also, working with the team that run SWAN UK and seeing first hand the amazing work they do to support families like mine is both humbling and brilliant.