April 26th is Undiagnosed Children’s day and we have had the pleasure once again, to produce a series of films for SWAN UK.
SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause. Syndromes without a name are also referred to as undiagnosed genetic conditions, unknown genetic conditions or undiagnosed genetic disorders.
We spent the day filming with Jemma and her family, 15-year-old Jack, 5-year-old Hugo and 3-year-old Atticus. Atticus has an undiagnosed genetic condition, and life for the family has been an emotional roller coaster in their battle to find a diagnosis. As any family in their position will tell you, life with an undiagnosed condition is hard. Amongst the multiple hospital appointments and treatments, is the uncertainty of what the future holds – the fear of not knowing what lies ahead.
Jemma and her family were an inspiration to our crew, conveying a positivity and strength that motivates them day-to-day. They support each other as a family, but they also rely on support from SWAN UK, the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.
SWAN UK has been a source of information and hope for Jemma. 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. Knowing that there are other families going through what they are and having the opportunity to communicate with other parents and professionals helps Jemma and her family feel less isolated.
Filming Jemma and Atticus was an opportunity to raise awareness for the undiagnosed rare disease community about undiagnosed rare diseases and the emotional, physical and financial impact on the lives of patients and their families. We got to witness first-hand how families affected by undiagnosed genetic conditions come together and support each other through the challenges they face on a daily basis.
We thank SWAN UK and Jemma’s family for letting us into their home and sharing with us their hopes and fears.