Community Spotlight: Xavier and Rose’s SMA Diagnosis

Carrie Menke is a South Dakota native who resides in Sioux Falls with her husband Tony and their four children — Xavier, Colette, Avila, and Rose. Carrie is one of the many advocates across the country who is supporting efforts to have spinal muscular atrophy (SMA) added to her state’s newborn screening panel. Her passion is strong on this issue, as both Xavier and Rose have SMA.

Xavier was born in November 2013. “He met all his early developmental milestones and was walking independently shortly after his first birthday,” said Carrie. “Xavier was also very verbal, saying his first words at 8 months of age and, later, talking in sentences. He was consistently on-track until he was about 18 months of age.”

It was between the ages of 2 and 3 years that Carrie and Tony noticed Xavier’s most stark regression. Xavier saw his pediatrician, a physical therapist and then a neurologist. The neurologist immediately suspected SMA. Both Xavier and his younger sister, Colette, were tested. Colette tested negative, while Xavier was diagnosed with SMA at the age of 3 years.

“Learning that Xavier would only get worse over time, given the degenerative nature of the disease, was devastating,” recalled Carrie. Yet, the whole family felt hopeful when they learned that a treatment was recently approved that could help prevent further muscle weakness.

Xavier is now 6 years old and enjoys playing with his younger sisters, Colette (age 4), Avila (age 2), and Rose (age 5 months). Rose also has SMA. She was diagnosed early and was treated pre-symptomatically, just after she turned 1 month old.

“When we told Xavier that his baby sister would also have SMA, his response was sweet,” recalls Carrie. “He said, ‘Now there will be someone like me.'”

Since starting treatment, Xavier’s endurance has improved. “He can now jump with both feet off the ground, walk upstairs while holding the railing, and he no longer exhibits tremors. He still is significantly behind his peers with gross motor skills, but he is determined,” says Carrie.

Now that her children are bit older, Carrie reflects on their great sibling relationship. “The girls keep Xavier physically active and working on achieving new gross motor skills. He gets frustrated at times that he cannot keep up, but Colette has an awareness of Xavier’s limitations and often will keep pace with him when she notices Xavier getting discouraged. He always does his best and finds ways to keep up with his sisters and friends,” shared Colette.

Like Carrie and Tony, more than 17,600 South Dakota residents are SMA carriers. But she knows that her advocacy efforts around newborn screening of SMA will help give parents the information they need to make important decisions about treatment and care. With 1 in 3 babies in the U.S. still at risk of a delayed SMA diagnosis, now is the time to encourage non-screening states to act on newborn screening for SMA!

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