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
http://www.raredisease.org.uk

Syndromes Without a Name (SWAN UK)
http://undiagnosed.org.uk

Unique
www.rarechromo.org

Genetic Alliance UK
http://www.geneticalliance.org.uk

NHS Choices
http://www.nhs.uk

UK Clinical Trials Gateway
http://www.ukctg.nihr.ac.uk

Genomics England
http://www.genomicsengland.co.uk

Deciphering Developmental Disorders (DDD)
http://www.ddduk.org

Genomics Education Programme
https://www.genomicseducation.hee.nhs.uk