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Spinal Muscular Atrophy: Are you 1 in 50?

This month, we are striving to bring awareness to spinal muscular atrophy (SMA), a serious inherited condition caused by changes in the SMN1 gene, which controls motor neurons in the spinal cord and brainstem.

DID YOU KNOW?

  • 1 in 50 Americans is a carrier for SMA.
  • SMA is the #1 genetic cause of death for children under the age of two.
  • SMA affects families of all ethnicities.
  • Most people who are carriers  have no family history of the disease.

Emily and Ethan Bessey didn’t know anything about SMA when their son Ezra was diagnosed at just four months old. Now, the Besseys are advocates for expanded carrier screening as well as SMA awareness and research. Their story has been featured by blogger Danielle Davis of the Today’s the Best Day blog.

The American College of Obstetrics and Gynecology (ACOG) now recommends that carrier screening for SMA be offered to all women who are considering pregnancy or are already pregnant.

At Counsyl, we believe carrier screening for serious conditions like SMA is an essential part of preconception or prenatal care. We strive to make integrating screening into your practice simple so that you can focus on your patients.

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Learn more about the Bessey’s story as well as SMA on sma.counsyl.com.

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