With the prick of a heel, and in the blink of an eye, a tiny drop of blood could contain life-changing genetic information about your newborn baby. This newborn screening process is done in the hospital the first 24 to 48 hours after delivery and is part of a mandatory testing that aims to identify treatable conditions that significantly impact a child’s lifelong health. The types of conditions screened vary in each state, however, and in Texas it will soon include an extremely debilitating disease called Spinal Muscular Atrophy or SMA.
The new screening is a huge milestone for the SMA community in Texas, explained Dr. Meeta Cardon, a board-certified pediatric neurologist and neuromuscular specialist, and the only one in Austin who is fellowship-trained in this condition.
“The sooner that SMA is diagnosed, the sooner treatment can begin so that your child will have the best chance for optimal motor milestone development and muscle function,” says Dr. Cardon. “Adding SMA to the newborn screening panel will help Texas-born children with this condition to be quickly identified and brought to medical attention. We are finding over and over in SMA that early intervention is key for optimizing our patients’ outcomes.”
SMA affects one in every 6,000 to 10,000 people in this country. It is an extremely rare genetic disorder, but the most common genetic cause of death in infancy.
SMA prevents muscles from functioning properly due to a breakdown in the nerve cells that extend from the spinal cord out to the muscles. There are many types of SMA, but for the most common forms, if left untreated, it can lead to difficulty swallowing, breathing, and potentially respiratory failure.
It is estimated that about 100 children are born with SMA in Texas each year. While SMA is a debilitating condition, it is also treatable, and one that can be detected right at birth.
While newborns in Texas are not routinely screened for SMA right now, SMA has been approved by the Texas Department of State Health Services to become the 55th item on the panel of required newborn testing. It is anticipated to be in practice by the end of 2020. The complete list of disorders newborns are currently screened for is available here.
Early detection of these often very serious conditions can expedite treatment and frequently help prevent complications such as growth problems, developmental delays, deafness or blindness, seizures, or even premature death.
What happens if my baby is diagnosed with SMA?
While there is not yet a cure for SMA, there are two medications currently approved by the FDA to help treat symptoms and more that are coming down the research pipeline. The currently available treatments work on the molecular level within the motor neurons and have been successful in encouraging better muscle control and movement while contributing to a longer life expectancy.
More information about SMA can be found at Cure SMA.
Child Neurology Consultants of Austin has experience treating a wide range of neurological and rheumatic disorders, including SMA, in children from 0 to 21 years old.
For an appointment with one of our pediatric specialists, please visit us here.