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Sarah Watts

Photo courtesy of Unsplash
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When Kelly Mantoan got the news that her 1-year-old son, Fulton, had spinal muscular atrophy (SMA) – a rare and progressive genetic disease – she was devastated. More difficult news came just a few months later when she gave birth to her newborn son, Teddy, at 32 weeks. As she sat with him in the neonatal intensive care unit shortly after his birth, doctors confirmed that Teddy had tested positive for SMA as well.

"I was sobbing uncontrollably," Kelly remembers. "[My husband and I] hadn't even fully come to terms with Fulton's diagnosis, and now we have two kids with it."

The Mantoans knew little about SMA – only that the condition involved the loss of motor neurons in the spinal cord due to a defect on the SMN1 gene. The SMN1 defect, the couple learned, meant the boys were unable to produce a protein called SMN, or "survival motor neuron." Without this protein, the muscles surrounding the spinal cord (and then, later, distal muscles such as the arms and legs) gradually weaken, affecting the person's ability to walk, breathe, and swallow. Worse still, while Teddy had been classified as having SMA Type 2, Fulton was classified as having Type 1 – the most fatal form of SMA, typically resulting in a life expectancy of less than three years. (Fulton was later re-evaluated and determined to have SMA Type 2. With proper care, people living with SMA Type 2 often live well into adulthood.)

"We truly thought Fulton was going to die within three years," Kelly recalls.

At the time of Fulton's diagnosis in 2009, there was little anyone could do. Physical therapy helped slow the muscular atrophy, but no medications existed to reverse the muscle function that the boys had already lost. But when Fulton was 8 and Teddy was 10, Kelly heard about a clinical trial for a drug, infused every few months through a lumbar puncture, that could stop the muscle atrophy and potentially even reverse some of the damage. If the treatment worked, the boys, who were now in wheelchairs full time – might be able to regain some of their muscle strength and their function. Kelly and her husband, Tony, were skeptical at first, but changed their minds when other parents in the SMA community started reporting incredible results. Kids with SMA who had lost muscle function were starting to smile, to hold things, to lift their heads on their own. "When it got FDA approval, I knew enough about it that I wanted to get both boys on board," she says.

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