Mom Nikki McIntosh Trusted Her Instincts, And It Might Have Saved Her Child's Life

Date April 4, 2018

Spinal muscular atrophy (SMA) is a degenerative genetic disease that affects motor nerve cells, weakening the body's muscles. Its various types can affect a child’s ability to walk, stand, swallow, and breathe.


Since SMA occurs in one out of every 10,000 babies, Nikki McIntosh didn't know what it meant when the doctors said they were testing her son for it.

The little boy diagnosed with spinal muscular atrophy

Miles, by all definition, was a happy baby. He sat up early and had a ferocious appetite. Nikki and her husband, Tony, thought he was going to play sports because of how rough and tough he was.

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But by the time Miles was nine months old, Nikki had a prickling sense that something was wrong.

You know how babies push through their legs when you bounce them? He collapsed at the knees.

The pediatrician waved off her concerns, telling her that Miles was very flexible and would need more time to adjust. When he turned 13 months old, Nikki told the doctor she wasn’t waiting any longer and demanded referrals to specialists to find real answers.

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Nikki took Miles to a new pediatrician for his 18-month checkup and filled the doctor in on her son’s symptoms. This physician asked the question that still haunts Nikki: “Are they testing for SMA?” She had never heard of it, but she Googled it later — and felt her heart drop.

Mom was determined to find help

In September 2013, the test confirmed that Miles had SMA, which meant he was missing a gene which produces proteins that keep the body’s motor neurons alive. These neurons, in turn, trigger muscles to move.

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He was diagnosed with type 2; type 1 is the severest form of SMA — kids with it can’t sit up on their own. Since learning more than three years ago that their son Miles has Spinal Muscular Atrophy, Tony and Nikki McIntosh of San Clemente have gone from devastation to joy.

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Their son Miles, who is now six years old, has experienced what the family sees as an amazing turnaround, thanks to a recently-approved drug that Miles began receiving in January 2015, in a clinical trial.

Similar diagnosis for a teenage girl

Teenager Megan Payne has respite nurses from the Ellenor hospice, in Northfleet, Kent, who help her and give her parents a break. The 18-year-old, from Dartford, has spinal muscular atrophy and needs assistance with most basic tasks. She has been in a powered wheelchair since she was three years old.

On December 23, 2016, the FDA approved this drug therapy, Spinraza, and it became the first-ever treatment for SMA. We pray it brings hope to all the families who are battling this disease.


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