Welcome to our blog for our son Cameron. We’ve created it to keep friends and family updated on his health since being diagnosed with Spinal Muscular Atrophy (SMA). We appreciate your support and words of hope and encouragement during this time when it matters most.
Around 3 and 4 weeks of age we noticed Cam wasn’t moving his arms and legs as much as we would expect. We initially thought it was due to his weight gain and that he was being lazy but when he wasn’t showing signs of improvement, we took him to Coastal Pediatrics to see Dr. Graham on Wednesday, Feb. 5th. The doctor immediately told us to go to MUSC Children’s hospital. Cam was admitted that evening and spent the next 3 days undergoing several tests. We saw many different doctors and discussed all the possibilities from infections in the spinal cord, to Muscular Dystrophy and SMA. That Friday, we met with Dr. Pai, the Director of Genetics, who explained to us what SMA was and that he believed this was what was causing Cam’s “floppiness” but without Genetic testing we couldn’t be 100% sure.
SMA, a severe motor-neuron disease that is the leading genetic cause of infant mortality. SMA affects approximately 30,000 to 35,000 patients in the United States, Europe and Japan. One in 50 people, approximately six million people in the United States, are carriers of the SMA gene. Carriers experience no symptoms and do not develop the disease. When both parents are carriers, however, there is a one in four chance that their child will have SMA. SMA is caused by a loss of, or defect in, the survival motor neuron 1, or SMN1, gene leading to a decrease in the protein, survival of motor neuron, or SMN. SMN is critical to the health and survival of nerve cells in the spinal cord that are responsible for neuro-muscular growth and function. The severity of SMA correlates with the amount of SMN protein. Infants with Type I SMA, the most severe life-threatening form, produce very little SMN protein and have a shortened life expectancy. Children with Type II and Type III SMA have greater amounts of SMN protein and have less severe, but still life-altering, forms of SMA.
On Wednesday, Feb 12, we received the results confirming SMA Type I.