August is Spinal Muscular Atrophy Awareness Month.
Spinal Muscular Atrophy, or SMA, is a genetic disease that affects the motor nerve cells in the spinal cord, taking away a person's ability to walk, eat, or breathe.
The mortality rate for infants is 50% by 7 months and 90% by 12-months-old.
Currently, SMA is the most common inherited fatal disease in infants.
Fortunately, the FDA approved an experimental drug, called Spinraza, that saw much improvement in infantile motor control in clinical studies.
Cold Spring Harbor Laboratory researcher, Dr. Adrian Krainer, worked on the preclinical development of Spinraza.
He discusses the effectiveness of the drug.
"So the effect of the nusinersin is that is allows the gene that is in all SMA patients to produce normal or near to normal levels of the SMN protein. When you do the research you always hope that it's going to have a beneficial impact, but it always seems like that is a distant possibility. It's something you strive for, and now it seems to actually be happening and it's like a dream come true, very rewarding."
A local family here in Fairbanks is currently affected by this debilitating disease.
Bob and Blanche Marok's 5 month old granddaughter, Quinn Bartholomew was diagnosed with SMA back in June.
Quinn is being treated with Spinraza, but each dosege costs approximately $125,000, and she needs at least seven treatments over the first year.
Fortunately, her first four doses have been donated by the pharmaceutical company providing the shots.
To help cover the remaining costs, vendors, performers, and community members came out to the Vivlamore Event Center on Saturday, August 21st to help raise funds at the aptly named "Quinn's Roundup."
Quinn and her parents, Jack and Brienna Bartholomew made an appearance at the roundup.
They discuss some of the improvements they are seeing already after Quinn's third treatment.
"Before she had no head control at all, and before she would only move her arms from the elbow down. Recently, we've noticed that she's been picking her shoulder off the ground and moving her arm up and down, so huge improvements, already. And the doctor said that we really wouldn't see any improvements until September, or so she's coming along really well. Yeah, she's doing really well."
Currently, around 400 babies are receiving Spinraza treatments in the United States.