Stories about: Dr. Basil Darras

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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After Spinraza: My new life with SMA

Kate, who has SMA, out walking on a trail.

When I was 4 years old, I was diagnosed with spinal muscular atrophy (SMA) at Boston Children’s Hospital. My mom will probably tell you that it was the worst day of her life — SMA is a relatively uncommon disease that comes with a lifetime diagnosis, so it caused a level of uncertainty as to what my future would hold.

SMA runs on a spectrum, and I happen to have a less severe case, called type III SMA. I can walk short distances, but otherwise use a wheelchair, and have fairly average strength throughout my body, with the exception of weakness in my legs.

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New treatment for SMA offers hope for Arianna

Arianna, who has SMA, is improving after treatment.For the first few months of Arianna Condon’s life, everything was moving along fine. She was a happy baby, and seemed to be developing much like her older sister, Tessa.

“She was gaining weight, and seemed to be doing great,” says Arianna’s mom, Marina. “She did have problems with reflux, but it was nothing too unusual for a baby.”

But by the time Arianna was 3 months old, Marina started to have concerns. Arianna wasn’t lifting her head the way Tessa had at that age. Something didn’t seem right.

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Stronger together: Families of girls with SPG47 find support in each other

Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world.

This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47).

“When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.”

The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care.

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