Glenwood Springs mom runs to raise funds for son’s rare medical condition
February 1, 2014
To learn more about Foundation for Angelman Syndrome Therapeutics (FAST) and its research efforts, visit http://www.cureangelman.org
GLENWOOD SPRINGS — The money spent on just five 30-second commercial spots during Sunday's Super Bowl game between the Denver Broncos and the Seattle Seahawks could make a huge difference in the world of 5-year-old Sam Underhill.
At an average cost of about $4 million per spot, that $20 million spent on five TV commercials is about what research scientists say is needed to develop a cure for Angelman Syndrome (AS), a rare neurogenetic condition with which the Sopris Elementary School kindergarten student was born.
"I can only say that watching all those clever 30-second spots is going to simply drive me crazy, knowing that the dollars spent could have bought my son a cure," said Sam's mother, Candy Granger-Underhill of Glenwood Springs.
An avid runner, Granger-Underhill is active with the Foundation for Angelman Syndrome Therapeutics, or "FAST," and is currently training for a series of ultra runs to raise money for research that is funded by the organization.
AS has left young Sam Underhill with a variety of physical and developmental disabilities, and causes him to suffer seizures that are difficult to control, she said.
"Something I learned on this journey is that Angelman is a combination of symptoms associated with epilepsy, Parkinson's, autism and cerebral palsy," Granger-Underhill said.
In Sam's case, he is "nonverbal," which makes it impossible for him to recognize and communicate when a seizure is coming, as well as to express any other needs, she said.
"He didn't take his first steps until he was 2-and-a-half, and because he can't recognize danger he has no sense of danger, so someone always has to keep an eye on him," she said.
Four years ago, Granger-Underhill founded the Mountain-to-Valley 10-miler and FAST 4-mile running races in Glenwood Springs to benefit Mountain Valley Developmental Services, where Sam was enrolled in preschool before starting kindergarten at Sopris last fall.
Part of the proceeds from the annual race across Dry Park and down Four Mile Road also help support FAST.
Now, in addition to organizing the upcoming local races on June 7, Granger-Underhill is part of a team of ultra runners, all parents of Angelman's children, who will be running a series of races this year in an effort to raise money to further FAST's research efforts.
In December, she traveled to the annual FAST Scientific Symposium where a professor of genetics from Princeton University, who also happens to be the mother of a child with AS, quoted the $20 million figure to complete the research into a cure.
She was also the one who made the Super Bowl commercial connection during her talk, Granger-Underhill said.
"I thought it was a timely message to put out there, to say that we are so very close to a cure," she said.
How to fix it
Granger-Underhill explained that scientists have determined AS is caused by just a single missing gene, which results in the loss of a critical enzyme that all humans require in order to maintain a healthy brain chemistry and central nervous system.
"The good news is that researchers completely understand the cause of AS," Granger-Underhill said. "They understand the mechanism that is broken, and they have some brilliant ideas about how they can fix it."
The cure would involve taking the normally inactive maternal or paternal gene to replace the missing active gene and stripping the DNA so it will leak the enzyme that's needed.
Using lab rodents, scientists have successfully done that already, she explained.
"It's often said that it is not a matter of 'if' but 'when' we cure AS," Granger-Underhill said of taking the research to the next level.
But, because AS is such a rare disorder, research funding is difficult to secure, she said. The staff at FAST is completely volunteer, so any money raised goes straight into research, she added.
Starting with the Red Hot 30K in Moab, Utah, in just a few weeks, Granger-Underhill will be competing in a series of long-distance ultra runs to raise awareness and funds for AS. She also plans to run the Steamboat Marathon in June, and the North Fork 50-miler in Pine, Colo., also in June.
"The race is something I still want to do on the side, and Mountain Valley was a big part of Sam's early years so I still want to support them," Granger-Underhill said.
"But this is Sam's future, so for me it's full steam ahead, let's find a cure," she said of her fundraising efforts for FAST.
She and her husband, Glen Underhill, and Sam live up Four Mile where she can be seen doing her training along Dry Park and Four Mile roads.
To donate to the cause in Granger-Underhill's name, visit http://www.firstgiving.com/fundraiser/candy-granger-underhill/northfork50miler.
And, for more information about FAST and the research efforts it funds, visit http://www.cureangelman.org.