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  • Binge-Watching Made Me Think About SMA & Infant Screening

    Posted by deann-r on October 27, 2019 at 11:15 am

    I’m binge-watching a series that’s got me thinking about SMA. Titled Call the Midwife, the setting is near London in the 1950’s. Each episode typically features some type of complication with either the mother or baby. I’m only on season 3, but so far they’ve had cases of still birth, Spina Bifida, Cystic Fibrosis and SIDS (although they didn’t call it that.) All those were just in the babies. They also touched on Tuberculosis, Polio and even referenced a character with Cerebral Palsy. No mention of Spinal Muscular Atrophy, yet.

    Of course I looked it up. SMA was discovered in the 1890’s by Guido Werdnig and Johan Hoffman. Muscle weakness presenting shortly after birth that seemed to run in families were signs leading to the discovery. Scientists Erik Kugelberg and Lisa Welander made the later onset connection a few decades later. I’m curious if SMA will come up in the show I’m watching since it was a known disease. Or was it so rare it went undiagnosed? A century after the initial discovery, advancements in DNA opened the door to knowledge about SMA. Including but not limited to genetic testing and infant screening.

    Learning how relatively new genetic testing is raises more questions for me. Mom has done some genealogy and discovered the death of a young child in our history. Could it have been SMA? Maybe. There was no genetic testing back then. What about SIDS? Could some cases actually be SMA related? One article I found indicates some cases may be connected. With infant screening it will be interesting to see if a correlation might arise. Complete speculation on my part. What do you guys think?

    Who knew a silly show could be so thought provoking. Have you seen it? If so I’d love to hear what your thoughts.

    Sources:
    https://www.curesma.org/the-discovery-of-sma/
    https://path.upmc.edu/cases/case490/dx.html

    deann-r replied 4 years, 8 months ago 2 Members · 2 Replies
  • 2 Replies
  • rachel-markley

    Member
    October 28, 2019 at 11:10 am

    First off, I LOOOVE that show and think it’s highly underrated! Secondly, there are several children in my extended family that lived until age 1-2. Based on what family remembered, they more than likely had SMA but it would be cool to know for sure.

    • deann-r

      Member
      October 29, 2019 at 12:13 pm

      I’ve been checking out the seasons from my local library. They have 6 seasons. Are there more than that? I haven’t googled it yet. It’s a little slow paced for me, but the science aspect keeps me watching. That and some of the quirky characters along the time period being fun to see.

      Definitely interesting to consider genetic history. The gene had to follow down the line somewhere, so it is feasible they had SMA. I have a lot of cousins, so am somewhat surprised it hasn’t popped up again in our family. Sometimes I don’t even know my extended family realizes there’s a genetic component.

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