Naperville teen's PROMise: Cure SMA
Fourteen years ago, medical researchers began to identify a chemical compound that can stop the effects of a rare genetic disease called Spinal Muscular Atrophy.
Four years after that, Spinal Muscular Atrophy patient Jungin "Angie" Lee of Naperville, then about 8 years old, hosted a garage sale with her friends.
The purpose was to raise money to cure the degenerative disease, donating it to an Elk Grove Village-based nonprofit organization with exactly that mission and exactly that name, Cure SMA.
Cure SMA took money donated from Angie's fundraiser and funneled it to researchers, like those who identified the promising compound in 2003.
Over the years, the Angie's Hope event in Naperville grew into a larger and larger garage sale, then shifted into a "Big Ball Soccer" tournament with a cartoonishly giant orb, and still those researchers kept tweaking and testing their formula to stop the effects of the disease.
Angie worked to stay strong, fighting against the muscle weakness caused by SMA, in which a genetic mutation causes nerve cells that control muscle movement to die.
Angie uses a wheelchair, but says now, as a senior at Metea Valley High School in Aurora interested in pursuing a degree in English, she has no major health concerns other than the chronic nature of her disease.
She's hoping her condition might improve soon as she lines up to receive the result of those 14 years of testing and clinical trials to develop that promising chemical compound into the first FDA-approved drug to treat SMA, called Spinraza.
"The expectation is it stops the disease from getting any worse," said Kenneth Hobby, president of Cure SMA. "This drug can be looked at as stopping the disease in its tracks."
Spinraza costs about $750,000 for the first dose and $350,000 a year after that, largely because it costs about $400 million to develop a drug, and rare diseases like SMA offer so few patients among whom to split that cost, Hobby says.
Setting aside the high price, Spinraza availability is still scarce because Cure SMA continues to train doctors on how to properly inject it into the spinal cords of patients in need.
Even before she receives Spinraza, Angie says the occasion is worth celebrating. So instead of a garage sale or a soccer tournament, she's gathering her friends for a semiformal dance, a "PROMise to Cure SMA," as the seniors prepare to head to college.
"It will be a celebration of what we've done so far, a celebration of the new treatment and a celebration of all the money we've raised," which totals more than $200,000, Angie said. "It will be a culmination for everyone who has helped us for the past 10 years."
The PROMise to Cure SMA is set for 7 to 11 p.m. Thursday, March 2, at Meson Sabika in Naperville, and Angie's mother, Kim Lee, is preparing for an emotional evening.
"We're going to cry the whole time at the event," Lee said, joking that boxes of tissues should have been on the list of donated items Angie's Hope sought while planning the dance.
Ticket sales have ended, but anyone who wants to support the cause can click the "donate" tab on angieshope.org.
Angie sees the 10th annual fundraiser as a milestone for reflection as well, especially considering the FDA approval in December of the first treatment for her disease, a treatment funded by the same organization that all of her charitable efforts have supported.
"My friends and I were all thrilled," when the news of Spinraza's approval came just before Christmas, Angie said. "We were like 'Maybe our work helped a little.'"
Angie's work already has been recognized for all the help it has provided, as she was named one of the top 10 teen volunteers in the nation last year in the Prudential Spirit of Community Awards. Her mother sees all of the volunteerism and recognition as a show of support from Angie's peers and their parents.
"It's more like our neighbors' hearts coming together," Lee said.
As the 45 or so friends who have taken leadership roles in Angie's Hope prepare to graduate high school, Angie says it's her hope they carry on what they've learned - even in small ways. Although SMA affects only about 10,000 people across the country, Angie says it's well-known at Metea, and she hopes her classmates can spread awareness among their new friends in college.
Spinraza isn't a cure, as groundbreaking as it is, Hobby says. It likely will need to be coupled with other medications that will help muscle or joint function to fully reverse the symptoms of the disease.
"The fact that this got approved will help stimulate other treatments," Angie said. "We hope this is only the beginning."