Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality in the USA. So why aren’t hospitals in Texas screening newborns for it? That’s what a group of parents are demanding to know, as they push for legislative change.
SMA is rare disease which leads to debilitating muscle weakness and degeneration. It’s caused by a genetic mutation which kills motor neurons in the brainstem and spinal cord. This doesn’t alter a patient’s ability to learn or perform mental tasks, but it can prevent them from being able to move. It can affect the muscles needed to stand or sit up, and in some cases, it can even inhibit swallowing and breathing. To learn more about SMA, click here.
There are four types of SMA, which have varying symptoms and ages of onset. Many patients are affected soon after birth or in early infancy. Kristen Resendez’s son Jack appeared to be a healthy baby following an uncomplicated pregnancy. Kristen took him home from the hospital; there was no reason not to worry. When he was four weeks old, Jack could no longer move. The doctor told Kristen the devastating prognosis: Jack had a form of SMA that meant he may only have six months to live.
This news could destroy a parent, and for 24 hours, Kristen let herself cry. Then she stood up and decided to take action. She found a new treatment for SMA called Spinraza, which has been effective. Jack is now two-years-old. He’s photographed sitting in a pediatric frame, fully engaged in an episode of Mickey Mouse. He still suffers from immobility, but he defied death.
What would have happened if the diagnosis hadn’t taken four weeks? What if Jack was screened as a newborn, when everything seemed to be fine?
Dr. Warren Marks, medical director of the Movement Disorder and Neurorehabilitation Program at Cook Children’s Medical Center in Fort Worth, emphasizes that early detection of SMA is essential. If a child doesn’t receive medical attention before SMA affects their breathing, it may cause death. However, early treatment may dramatically improve the prognosis.
Beth Moore’s family illustrates the need for urgency. Moore’s six-year-old son, Will, was born before Spinraza was around. The effect is severe. His eyes are the only part of his body he can voluntarily control. He communicates through a computer, which tracks his eye movement. His younger sister, Mary, also has SMA, but she was diagnosed before she was in even born. She started treatment immediately, before any symptoms began. She’s able to eat and walk without equipment. When she plays with her friends, parents often don’t notice any difference.
Texas already screens newborns for a list of diseases. This has benefitted public health immensely. The list only considers diseases with known treatments, which now includes SMA, thanks to Spinraza. Missouri automatically screens newborns for SMA, and several other states are considering it.
Opponents bring up the costs of adding a new disease to the screening list. It’s true, screening can be expensive. Currently newborn screening is around $55 per child in Texas, although that’s generally covered by the family’s insurance. However, early treatment avoids other longterm expenses: for example, Jack’s $12,000 medical bed or a $30,000 power chair.
These Texas parents have traveled lengths with their children to speak to The Newborn Screening Advisory Committee and advocate for their cause. The committee will discuss whether or not they will add SMA at their upcoming meeting on October 27th, 2017.
