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. …
Ed note: A year since this story was published, Vivienne remains stable. Her test drug, to be marketed as SPINRAZA (TM), met its clinical trial endpoints and is now under review by the Food and Drug Administration. It could be available in early 2017 for SMA Type 1 and possibly for other forms of SMA.
When Helena Liedtke was pregnant with her first child, she and her husband Helge could agree on one name only—Vivienne, which means to live.
They happily named their newborn daughter Vivienne and rejoiced in her good health.
But as Vivienne grew from infant to toddler, she was slow to reach motor milestones like crawling, cruising and walking.
“We started feeling suspicious around the time Vivienne turned 1 and wondered if she was losing strength,” recalls Helena.
Helena mentioned her concerns to Vivienne’s pediatrician at her 15-month checkup, but the doctor assured her Vivienne would be walking by the time she turned 18 months.
During the next few weeks, Helena and Helge observed their daughter and watched family videos they had taken in the past few months. “We could see Vivienne had lost strength and skills,” says Helena. …