JACKSONVILLE, Fla. – Amyotrophic lateral sclerosis (ALS), often referred to as Lou Gehrig's disease, affects a person's ability to walk, talk, swallow and eventually breathe.
No cure has been found for ALS, but because of a discovery made in a Mayo Clinic laboratory in Jacksonville, scientists and doctors may be one step closer to finding one.
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Christopher Reeger, 48, was diagnosed with ALS a year ago.
"A year ago with some hand weakness, I was playing golf, I was playing floor hockey, roller hockey, throwing the football with my girls," Reeger said.
Since then, his muscle weakness has made it difficult to move his arms and legs, and even talk. ALS is a devastating neurodegenerative disorder that comes on insidiously and takes its toll fast.
For years, the medical community has been baffled by what causes ALS, until now.
"It's a great feeling. It's a project that I worked on from the moment I started my laboratory here four years ago," Dr. Rosa Rademakers said of the recent discovery.
Rademakers was the lead researcher of the Mayo Clinic study responsible for identifying the genetic mutation that causes ALS and Frontotemporal dimentia, or FTD. The two disorders are linked.
"There is actually a small piece of DNA that in healthy people is only repeated two to 20 times, but in patients with ALS and FTD, the same piece is now repeated hundreds, even thousands of times," Rademakers said.
Doctors still have strides to make in terms of coming up with a treatment for ALS patients.
"The best treatment available is a drug that modestly prolongs survival by a matter of months," said Dr. Kevin Boylan, of Mayo Clinic.
Reegan said he hopes this recent breakthrough will one day lead to a cure, even if it isn't in his lifetime.
"In your heart, you say, 'Alright, God will find something for me,' but in your head, you know it takes years and years," Reeger said.
Blood samples from hundreds of local patients, as well as the brains of deceased patients who donated their organs to science were used for this study. Doctors say that without the donations, they wouldn't have been able to accomplish this medical breakthrough.