Meet Maxwell. Maxwell is a 3 ½ year old boy diagnosed with Spinal Muscular Atrophy (SMA). Maxwell is the fourth child to be diagnosed with this terminal illness in his mother’s family.
Spinal Muscular Atrophy is the #1 genetic killer of children before the age of 2. SMA is a motor neuron disease that affects the voluntary muscles that are used for activities such as crawling, walking, head and neck control, swallowing and even breathing.
Maxwell reached all of his infant milestones on time before 12 months. At 12 months Maxwell could not stand or walk independently. By Maxwell's 12 month check-up, he was expressing some extremely pronounced arm tremors. The pediatrician, unconcerned of Maxwell's inability to walk or stand independently, sent us for a neurological consult for his arm tremors. Maxwell’s neurological examination presented other concerns. The tremors were unexplained but once the neurologist learned of my family history of SMA and Maxwell’s inability to stand or walk independently, she ordered us to a genetics specialist. Genetics immediately had Maxwell tested for SMA by blood tests. The results were positive for mutations in the SMN 1 gene which were consistent with an SMA diagnosis.
Our lives from this moment have dramatically changed. At about 19 or 20 months, Maxwell hit a growth spurt. He can no longer stand or cruise unassisted by medical equipment. He is confined to a power wheel chair. Along with physical disabilities, Maxwell is also prone to respiratory infections which lead to pneumonia. Maxwell has weekly physical therapy, occupational therapy, hippo-therapy (horseback therapy) and other voluntary therapies.
When children are diagnosed with SMA, most parents have never even heard of the disease. But I am here to tell you all children are a blessing. The mind is NOT affected with SMA. Maxwell is bright, loving and extremely outgoing.
Know the facts:
- SMA is the #1 genetic killer of children before the age of 2.
- SMA can strike anyone of any age, race or gender.
- One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.
- National Institutes of Health (NIH) has selected MSA as the disease closest to a treatment of more than 600 neurological disorders.
- Carrier screening is available.
Additional resources for Spinal Muscular Atrophy: www.fightsma.org; www.fsma.org; www.curesma.org
