Texas adds lifesaving test to newborn screening

There's no cure for SMA, but if it's diagnosed early, there are many effective treatments.
There's no cure for SMA, but if it's diagnosed early, there are many effective treatments.(KCBD)
Updated: Jun. 4, 2021 at 5:55 PM CDT
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LUBBOCK, Texas (KCBD) - Doctors now have a way to detect a devastating disease in newborns, sometimes before symptoms even appear.

The Texas Department of State Health Services has added testing for spinal muscular atrophy to their newborn screening.

Spinal muscular atrophy, or SMA, is a genetic disorder affecting the cells in the spinal cord that tell our muscles what to do. Over time, the muscles weaken, making it more difficult to crawl, walk, control head movements, and eventually breathe or swallow.

There’s no cure for SMA, but if it’s diagnosed early there are many effective treatments.

“We know that if we can intervene sooner, we can slow the progression of the disease or even stop the progression. So, sometimes, if we’re able to identify these babies before their symptoms even start, we may be able to keep those symptoms at bay for many, many years,” Dr. Melissa Piepkorn, medical director of the NICU at University Medical Center, said.

With every newborn in Texas being screened, Dr. Piepkorn says doctors will hopefully pick up about 95 percent of cases.

6-year-old Channing Langer has SMA. Her mother, Roxanne Langner, says the recent announcement is bittersweet, since progression has already settled in for Channing.

Their family started searching for a diagnosis at nine months and didn’t find one until Channing was almost two years old.

“So that was a long time of just, a lot of struggle, a lot of tears, a lot of just heartache, trying to figure out who can tell us what’s wrong. We ended up having to fly all the way to Minnesota to find out. So, this, for it to be done at the time of a baby being born that’s just, it’s amazing. It’s so big,” Langner said.

Dr. Mary Schroth is the chief medical officer at Cure SMA, a nonprofit that funds research and supports families. She says new treatments and early diagnosis have totally changed the disease.

“We are so hopeful now. Previously, it was a death sentence to have this diagnosis. And now, it’s still devastating to have this diagnosis, but there’s options for treatment to make this disease so different than what we’ve had historically,” Schroth said.

The Langners were travelling to Dallas every four months for treatment, but now have medicine shipped to their front door. Channing’s also getting a new power chair in two weeks.

“I’m getting a power chair. I’ll put it on full speed and go whooo,” Channing said.

Dr. Schroth says Texas represents 10 percent of all children born in the United States. That means now, 85 percent of newborns in the US are screened for SMA.

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