Eric is aged one from Colchester and was born at term with no complications at birth. He was a healthy little boy.

At around 3 months old we started to notice Eric wasnt moving his arms as much, and by 5 months old he stopped moving his legs, still had no head control and was unable to sit up. He was also struggling to feed.

The day that completely changed our lives! In May last year when Eric was 6 months old, we were taken into a room and told Eric has Spinal muscular Atrophy (sma) type 1 (the most severe form). Spinal muscular Atrophy is an autosomal recessive neurodegenerative disease, and the most common cause of mortality in infants linked to a genetic mutation. It affects 1 in between 8,000 and 10,000 people.

The disease is characterized by progressive muscle weakness caused by the loss of specialized nerve cells called motor neurons in the spinal cord and the part of the brain connected to the spinal cord.

Motor neurons control voluntary muscle movements, including those of the arms, legs, chest, face, throat, and tongue. The loss of motor neurons leads to weakness and atrophy in these muscles. Fundamental activities using muscles, such as walking, sitting up, controlling head movement, breathing, and swallowing can be affected by the disease. Movement progressively becomes slower and the ability to control voluntary movement may be lost completely in the later stages of the disease.

Eric was lucky to be diagnosed when a treatment called spinraza was being offered to type 1s. This treatment is injected into the spinal fluid via lumber puncture every 4 months, and he will need this for the rest of his life. Whilst spinraza increases SMN protein, muscle strength does not develop on his own. Physiotherapy is critical for regaining lost function and to help maintain existing. We are fundraising for Just4Children to help pay for Erics physio and speech and language therapy which is not available on the nhs.

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