For the 6,000+ children a year born with an undiagnosed genetic condition, and their families, a long awaited diagnosis can be both a positive and negative experience.
Seeking the elusive unifying diagnosis that often ties together a host of conditions, is a long and difficult journey – combining the hope that diagnosis may bring, with the fear of what it may mean.
In recent months, many families have been receiving a diagnosis through their genetics teams – the DDD study and the 100,000 Genomes Project and incredible genetics progress is giving more and more families the answers they seek. However the experience of those on the receiving end is varied, sometimes it is handled brilliantly but occasionally the way news is delivered is not ideal.
Examples of this include a letter landing on the doorstep with news of a diagnosis. Imagine waiting five+ years for answers and to open a letter in the middle of breakfast with what is, to you, monumental news. On occasion, an invite to an unexpected appointment with the genetics team, with no explanation and weeks away, which results in high levels of tension and anticipation. Even attendance at a routine appointment with news delivered out of the blue.
In our case, we received such a letter and called to ask if it was a significant appointment or a routine review. We were told the latter, arrived at the appointment with two children in tow only to find that there was indeed ‘big news’ – this was broken to us whilst we fought to keep GG away from the taps given her obsession with water. As it turns out, the diagnosis found was not significant for GG you can read about the ‘Almost Diagnosis’ here.
So, based on our experience and feedback from others in the SWAN world, here are a few pointers to those delivering news of a diagnosis to families:
Finally, thank you from the bottom of our hearts for working so hard to help us find answers. A diagnosis, no matter how rare, is really important to us and our children.
