Spinal Muscular Atrophy, Type I is a motor neuron disease, which affects the voluntary muscles that are used for crawling, walking, head and neck control and swallowing. It is found in about 1 in 6000 babies and about 1 in 40 people are genetic carriers. This disease affects muscles throughout the body, but the ones closest to the trunk of a person's body, such as the shoulders, hips and back are most severely affected. Feeding and swallowing are often affected as well as the respiratory muscles which can lead to an increased tendency for pneumonia and other lung problems. Type I patients have short life spans, and often die by the time they are 3 years old, most before that age. Intellectual activity is normal and is often heightened as many with SMA are unusually bright and sociable. My niece has this disease. Her parents take one day at a time, we have found that she is extremely intelligent, loves people, lots of attention, and she started "talking" at 1 month old. So, I want to ask that you help us to find a cure for this disease which takes people we love away too early. |