For the 6000+ 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, 100,000 genomes 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 5+ 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 2 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:The ‘Almost’ Diagnosis
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:
- Please pick up the phone! Let us know that something has been found that may or may not be of significance and that we should meet to discuss
- Offer an appointment in a timely manner so that we are not waiting weeks and months for really important news
- Ensure you provide as much information as possible about the diagnosis and what it could mean – we will google it anyway, so we value you being honest about the implications
- Be clear if there are further steps to confirm the diagnosis and what happens next
We know that the science is fascinating to you and the progress in your field is incredible, but for us, this is about our child, our family, being sensitive to the impact such news can have is really critical. We also recognise you are incredibly busy and not best placed to provide post appointment support, but please do point families in the direction of those that can help – some ideas are below.
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.
If you come across families that might benefit from extra support you can point them in the direction of:
SWAN UK – www.undiagnosed.co.uk
Unique – http://www.rarechromo.co.uk
Rare disease UK – http://www.raredisease.org.uk