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Undiagnosed Genetic Conditions

with Jo Wright

Approximately 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose. Without a diagnosis it can be difficult to access basic information and support and caring for a child under these circumstances can impact parents’ and carers’ emotional wellbeing as well as that of the wider family, including siblings.

A rare or undiagnosed genetic condition can impact a child’s learning and communication, and affect the coping strategies they use to meet the demands of the curriculum and school life. With undiagnosed conditions presenting so many unknowns, it is imperative that families and professionals work together in order to achieve the best outcomes for each child. Professionals involved in all aspects of child development and education can benefit from understanding what it means to be undiagnosed, how this can impact families’ experiences within the education system and being aware of new diagnostic technologies such as genome sequencing.  

Session objectives and aims

  • Have an increased awareness and understanding of  rare and undiagnosed genetic conditions
  • Know  more about advances in genomics and genomic testing and  the impact of this on children and families.
  • Have a deeper understanding of how living with an undiagnosed  genetic condition impacts on children and families and their  experiences of school.
  • Consider ways to better support this group of children in schools.  

Understand what is meant by the terms rare and undiagnosed genetic conditions. 
Understand the unique challenges faced by children with an undiagnosed genetic condition and their families.
Have a basic understanding of genomics and genomic testing and how this new branch of  medicine is beginning  to make a difference to our understanding of ultra-rare conditions.

Speaker profile

Jo Wright is a volunteer Parent Rep for SWAN UK, which is a support network for families of children and young people affected by undiagnosed genetic conditions. Jo taught for 10 years in both mainstream and special schools in Hertfordshire and Hampshire. She now works as a care coordinator within the NHS. Jo has two children, one of whom has an undiagnosed genetic condition. In her work with SWAN UK she  combines her knowledge of special education and experiences of being the parent of a child with an undiagnosed genetic condition to support families in her locality and contribute to the wider work of SWAN UK.