Community Stories

Find out more about families living with SMA, and the wider community, and their thoughts on newborn screening.


Eden, who has SMA Type 3, and her mum describe more about how the condition affects Eden, their experience of diagnosis, and how newborn screening could change the lives of others like theirs.


George Tappenden, aged 11, lives with SMA Type 2. His mum, Lucy, is an active advocate for access to treatment and a trustee with TreatSMA – a charity which is a member of the Newborn Screening Alliance. Here, Lucy describes George’s diagnosis journey and highlights why Newborn Screening for SMA is so important.


Aurora’s dad, Dan, shares their family journey of her receiving a diagnosis of SMA Type 1 after Dan was discovered to be an extremely rare genetic ‘silent carrier’, and how if newborn screening had been in place, Aurora’s SMA would have been picked up so much earlier.


Ben describes his family’s journey to diagnosis and treatment for son Ollie who has SMA Type 1 and the difference pre-symptomatic screening and treatment would make.

Maisie and Amelia

Sinead is mum to Maisie and Amelia and, here, she shares their story of receiving Maisie’s diagnosis and Amelia then receiving treatment pre-symptomatically.


My name is Amelia. I am 16 years old and I have had SMA type 2 all my life. My sister Lena has SMA too, but she was diagnosed at birth and has had a gene therapy which hopefully will prevent the progression of the disease. 

Portia and Ezra

Portia’s son, Ezra aged 5 years has SMA type 1. Their journey highlights the importance of new born screening and how it could transform the lives of those living with SMA in the future. This short film was part of Rare Disease Day 2022 when Genetic Alliance UK partnered with ITN to produce ‘Shining a Light on Rare Conditions’, a news-style programme raising awareness of people affected by rare, genetic, and undiagnosed conditions.


Neil talks about the short time his family had with their son Teddy who had SMA Type 1, and why he supports pre-symptomatic screening and treatment for SMA.

Our Wider Community

Here, we share ‘snapshots’ from some of the clinicians, adults and families, and patient organisations who’re involved with the newborn screening campaign.