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Sophia was diagnosed with Spinal Muscular Atrophy, SMA type I, at 5 weeks of age, after being dismissed by the pediatrician as “just a lazy baby”. SMA is a degenerative terminal disease, there is no cure and there is no proven treatments to help slow the progression of the disease. The body slowly begins to fail. The body does not produce a particular protein which enables the motor neurons in the spinal cord to survive. Eventually the muscles that were produced while in the womb will start to atrophy without the motor neurons to control them. SMA is a deletion of the Survival Motor Neuron 1 (SMN1) gene. Eventually the child loses the ability to eat, swallow and breath on their own. The child will never be able to lift the head, sit up, roll over, crawl or walk like any other healthy child. Even though the body fails, the mind remains unaffected. SMA children require around the clock care, treatment and monitoring.

Unfortunately SMA is considered an “orphan disease”, which means all money raised is through families affected by this disease in their quest to find a cure for their children, and it is not profitable for a pharmaceutical company to invest money into finding a cure or treatment. It is often overlooked and forgotten about amongst much more “popular” diseases. Get Involved!

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