Rare Disease: A family’s journey 

Please note, this film was published in 2015. You can find more up-to-date patient stories by browsing our collection.
This short film tells the story of Lewis and his family. Lewis has Batten disease, a rare neurodegenerative disorder that begins in childhood. Lewis’s mum Samantha talks about Lewis, their struggle for a diagnosis and the impact a rare disease has had on the entire family. Samantha wants to offer advice to other families who are in similar situations, many without a diagnosis.
For more support, these organisations are here to help:
Rare Disease UK
www.raredisease...
Syndromes Without a Name (SWAN UK)
undiagnosed.org.uk
Unique
www.rarechromo.org
Genetic Alliance UK
www.geneticalli...
NHS Choices
www.nhs.uk
UK Clinical Trials Gateway
www.ukctg.nihr....
Genomics England
www.genomicseng...
Deciphering Developmental Disorders (DDD)
www.ddduk.org
Genomics Education Programme
www.genomicsed...