Author: Ellen Greenlaw

SMA and Spinraza: A tale of two siblings

Kernan and Braeden Farrrell, who have spinal muscular atrophy, wave for the camera. When Kernan Farrell started falling and losing developmental milestones shortly before her second birthday, her parents, Kristen and Jim, knew the cause right away. Like her older brother, Braeden, she was born with the gene for spinal muscular atrophy (SMA), a rare genetic condition that causes weakening muscles throughout the body. They had been watching and waiting, wondering if and when Kernan might start showing signs of the condition.

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Samuel’s heart: After four years and four surgeries, it’s the healthiest it’s ever been

Samuel, who had a biventricular repair on his heart, wears his heart hero costume.

When Samuel Guinn was born, his parents, Jennifer and Grant, expected at least one surprise. The couple from Jennings, Louisiana had chosen not to learn their third baby’s gender ahead of delivery. But soon after their beautiful boy’s birth, they got an unexpected surprise — he had a serious heart condition.

“Within an hour, the doctors noticed a heart murmur and transferred him to a larger hospital in Louisiana,” says Jennifer. “Once he was there, they diagnosed him with transposition of the great arteries (TGA) and a ventricular septal defect (VSD), but they couldn’t keep him stable, so they told us they wanted to send him to a bigger hospital in New Orleans.”

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After a rough start, Joey is finding his voice

Joey, born with trisomy 14 mosaic and several congenital heart defects, poses in front of kangaroos at the zoo.If you run into Joey Vautour in the grocery store, he’ll probably wave and give you a big “hi!” What you might not realize is that saying “hello” is still a big deal for the happy 4-year-old. Although Joey loves people and is social by nature, speech has not come easily for him.

Shortly after his birth, Joey was diagnosed with trisomy 14 mosaic. This is a rare disorder that causes an extra chromosome on some, but not all, of the body’s cells. Kids born with trisomy 14 mosaic can have a variety of medical problems, which for Joey included three congenital heart defects, serious gastrointestinal defects and a cleft palate. He has also faced a host of physical and developmental delays.

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Tyler’s story: Moving toward a new future with Spinraza

Tyler, who has SMA, rides a ski lift on a recent ski trip. Tyler Hansen was always a happy child, but also a little clumsy. At first, his parents didn’t think too much about it.

“Tyler’s the youngest of four,” explains his dad, Doug. “The oldest two are tall and sprouted early, so they were both kind of awkward and clumsy. We assumed it was the same with Tyler, that he was just going through a growth spurt.”

But after a while, they started to become concerned. Something seemed different about Tyler’s clumsiness, and Doug noticed he had an awkward way of running. They took him to their pediatrician and voiced their concerns.

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