In February I had the pleasure of attending one of the SWAN UK undiagnosed genetic conditions information events which I had helped to organise.
This event took place at Southampton Science Park. It was wonderful to meet the families I had been in touch with about SWAN UK. Many of the parents I met were grateful to be in contact with other families of children with undiagnosed genetic conditions, and I’m happy to have been able to help bring them together through this event. Some parents saw themselves in each other’s stories while embracing their children’s unique qualities. Many compared their experiences with health professionals and some bonded over their children’s love of the same Disney films.
The SWAN UK information events are an opportunity for families to hear from professionals about topics such as what it means to be undiagnosed, why it can take a long time to get a diagnosis, genetic testing and updates on research studies. At our event in Southampton, Dr Frank Ratcliff and Dr Catherine Mercer gave an explanation about genes and how genetic testing is carried out. They discussed research such as the Deciphering Developmental Disorders (DDD) study and the 100,000 Genomes Project as well as answering parents’ questions — both those already involved in these projects and others who hope to be, appreciated their insight. It was great to hear that families who attended felt that their knowledge had improved a great deal after listening to these professionals’ talks.
We passed around a book of chromosome 21 – half of the smallest human chromosome – and families were quite astounded as to how big it was!
Our events are also a great opportunity for parents to meet other parents with undiagnosed children and at this event families also got to meet their local SWAN UK Parent Rep for Southampton, Claudia. Claudia gave a talk about her son Trent who is undiagnosed and many parents approached her to say how much her talk had moved them. It was wonderful hearing Claudia talk about her experience raising a child with an undiagnosed genetic condition as well as the joy that her swan brings to her family.
Parents came to the event hoping to meet other families of children with undiagnosed genetic conditions, and left having made friends in their local area. A few even discussed introducing their children to each other!
I’m glad to have been part of organising the event, and feel so lucky that I was able to meet SWAN UK families.