In October 2017 SWAN UK's Parent Rep for Wales spoke at the Third Annual Rare Disease Patient Network Meeting, in Cardiff. This is her speech:
Hello, I'm Amy and I have recently joined SWAN UK as the first Parent Rep for Wales, covering the Cardiff and surrounding areas.
SWAN UK is a support network run by the charity Genetic Alliance UK, and we offer support and information to families of children affected by undiagnosed genetic conditions.
I'd like to tell you a little bit today about the experiences encountered by both myself and fellow SWAN UK members.
Although our situation is similar to many parents of children affected by rare diseases, in other ways it's also very different. Whilst some children may go on to obtain a diagnosis, many however will not.
I first joined SWAN UK around eight years ago when my eldest was two years old.
After a pretty horrific pregnancy of complications, I had a wonderful baby, born seven weeks prematurely. Unfortunately my child went on to suffer many health setbacks and challenges over their early years.
We spent the following five years visiting a number of professionals who were unable to offer my child an overall diagnosis. Instead we appeared to be obtaining an ever growing list of 'symptoms' such as delayed mobility, gastro difficulties, allergies, hypermobility, asthma, visual and sensory processing difficulties, social and emotional issues.
This was an extremely frustrating time as a parent, being told time and time again that support was unavailable without a confirmed diagnosis, and at times I felt quite angry that my child's needs were being so badly neglected.
By this time, I had also gone on to have a second child with similar difficulties, although with more severe communication and behavioural issues.
Thankfully in 2015 both my children were taken on by a new team of professionals who were extremely supportive and were able to offer partial diagnoses for them both. The relief we felt was unbelievable! Although there are a few issues that are still a bit of a mystery, my children's needs are finally being supported and they are progressing well in their own quirky way!
But for many, without a diagnosis it is impossible to tell what the future holds. You have no idea whether your child will walk, if they will talk or even if they will have a shorter life expectancy.
Nobody can provide you with the answers and this in turn means that you don't have any answers when other people question you.
This can put a strain on family relationships and sometimes results in you feeling judged by people who have no concept that it's even possible to have an undiagnosed condition. They just assume that you have either not bothered to try and find out what’s affecting your child, or in some cases accuse you of somehow fabricating their difficulties!
Perhaps one of the hardest decisions for parents of children with an undiagnosed genetic condition is whether to have more children. Without a diagnosis it is impossible to predict the risk of the same condition reoccurring. Many families are desperate to have more children, but are too afraid of the unknown.
Without a diagnosis it can also be challenging to access the support and information you need. Many families don’t feel that they fit into the wider networks for parents of disabled children, and therefore end up feeling more isolated.
I am really looking forward to developing the undiagnosed network in Cardiff; it's been a long time coming! I can't thank SWAN UK enough for the support they offered my family in those early years, where as a parent I felt ignored, belittled and isolated at times.
I'm keen to ensure that SWAN UK families have a voice, and that a label should never restrict access to support services.