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. …
Injections of botulinum toxin and phenol into Will’s legs helped relax his rigid, spastic muscle and increased his range of motion. But because the injections are very painful, he needed to go under general anesthesia each time. And the effect was short-lived.
“We had to do it every three to four months, two to three times a year,” says Will’s mother Marlee. “Every time he did it he had to go under. It was heartbreaking.” …
Today, the National Institutes of Health confirmed that former NFL star Junior Seau suffered from chronic traumatic encephalopathy (CTE)—a progressive degenerative disease of the brain found in athletes (and others) with a history of repetitive brain trauma.
Seau’s family requested that the results be released to the public, in hope that the news would raise more awareness about the dangers of repetitive brain injuries. The takeaway is clear: preventing concussions and brain injuries is crucial, but properly treating them once they occur carries equally substantial weight.