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Image shows a little boy who had SMARD1.Our names are Stephen and Angela. Our first child Fergus was born in May 2005. Fergus was quite small when he was born (4 pounds and 14 ounces) but apart from that he seemed to be an alert and healthy baby. We had 12 happy weeks at home with Fergus but then very suddenly he developed breathing difficulties. This was just after he had had his first set of immunisations and we thought it might have been a reaction to them. We took him to A&E at our local hospital Addenbrooke’s in Cambridge.

Fergus spent the next five and a half weeks in the Paediatric Intensive Care Unit. The doctors were baffled as to what was wrong with him and the little fellow had literally hundreds of tests. At one point, about a week after he was admitted, he did move out of intensive care for a couple of days and onto the general ward – we thought he was getting better. However, he had another episode of severe breathing difficulties and was moved back to PICU.

Image of a little boy who had SMARD 1.Eventually by a process of elimination, Fergus was diagnosed with an extremely rare form of SMA known as SMARD (Spinal Muscular Atrophy with Respiratory Distress). Fergus’ condition deteriorated quickly after he was put onto a ventilator. He died on 30th September 2005 aged 18 weeks. We received genetic confirmation that Fergus had SMARD three weeks later. Fergus was a much-loved little boy. He is never far from our thoughts.