We welcomed our gorgeous baby boy, Charlie, in August after an uneventful pregnancy and birth.

As the weeks went on, my instincts told me something wasn’t quite right with Charlie. His initial neck strength weakened. His startle reflex disappeared. His legs were always quite still. His cry was whisper-soft. When Charlie was 7-weeks-old, I noticed some laboured breathing from Charlie. I brought him to Kingston Hospital A&E and didn’t know that our lives were about to turn upside down. As the paediatrician told us “I think you should sit down to hear this,” my suspicions were confirmed that something with Charlie was wrong.

We were transferred to Evelina Children’s Hospital to confirm the diagnosis of Spinal Muscular Atrophy (SMA) Type 1 for our brave little boy. SMA Type 1 is a rare, life-limiting genetic neuromuscular condition that causes progressive muscle weakness, loss of movement, and paralysis.

We spent the next 2 months in hospital getting Charlie stabilised with his breathing and established with his at-home ventilator. Thanks to modern medicine and technology, my son has been given a second chance at life having received Zolgensma in December.

We still have hills to climb with Charlie, as we don’t know what the future holds with his mobility, respiratory needs, and feeding skills. But we remain hopeful and ready to fight to give our son the most beautiful life alongside his big sister!

Charities like SMA UK support families like ours and advocates for the future of SMA care. I’m running the Prague Marathon in May to support the amazing work of SMA UK.

Thank you for your support,

Cat

About SMA UK

Established for over 30 years, SMA UK are a charity that supports, campaigns and advocates so that everyone affected by Spinal Muscular Atrophy can access the best care, services and treatments, and benefit from continued research. We offer adults, young people, parents, relatives and friends emotional support, practical advice and guidance from our experienced team and provide reliable health and social care information about SMA. We also provide and distribute free multisensory toy packs for infants who are diagnosed with SMA.