Our Wider Community – 'Snapshots'
To bring some of the issues related to newborn screening to life, we’ve shared here a ‘snapshot’ of the lives and views of a range of people from the SMA Community – clinicians, adults and families, and patient organisations – who’re involved with the newborn screening campaign.
Dr. Elizabeth Wraige
- What’s your connection with SMA? I am a Paediatric Neurologist.
- How does it affect you? I am a consultant specialising in neuromuscular disorders, I diagnose and treat children who have SMA. It is great to have 3 available treatments but I always feel sad when the diagnosis is made later and I know that the treatment benefits will then be more limited.
- Why do you think NBS is so important? There are 3 treatments for SMA funded by NHS England which have been shown to work very well if started before the onset of muscle weakness and to be less effective if started when weakness is already present. The only way to be able to treat early enough to see the very good effects is through newborn screening. Until we have this, SMA will remain a disease associated with long term muscle weakness in England.
- What’s your connection with SMA? I’m a person living with SMA.
- How does it affect you? From education, career and health, to and how and where I live, SMA majorly impacts almost everything in my life.
- Why do you think NBS is so important? The earlier that SMA is detected and treated, the healthier and more independent a child can become.
- What’s your connection with SMA? I am head of Policy and Campaigns at Muscular Dystrophy UK
- How does it affect you? I work closely with families living with SMA and often hear how hard it is to not only access the right treatment and care but also the mental, emotional and financial burden of living with SMA.
- Why do you think NBS is so important? It is only through NBS that we can treat babies pre-symptomatically and give them the best quality of life.
- What’s your connection to SMA? I am Advocacy Lead at SMA UK and mum to a charming little 5 year old boy living with SMA Type 1.
- How does it affect you? We were overwhelmed to be able to access treatment for our son. Because diagnosis took so long, and the condition progressed so quickly, our son lives with complex needs and has survived multiple intensive care admissions. This had had a significant impact on our family and is an experience shared by many other families that I have had the pleasure to work with through my role at SMA UK.
- Why do you think NBS is so important? My son thoroughly enjoys his life, and packs in as much fun as he can, but it comes with so many limitations. It is unethical to delay the introduction of SMA newborn screening to the UK, now we have a test that works, and treatments that can transform the lives of families like mine.