When Auburn alumni Michael and Sara Heatherly discovered their son Porter had a rare genetic disorder, they didn't know at first that their alma mater was leading the fight against it.

Researchers at Auburn's College of Veterinary Medicine have been researching how to treat the same genetic disorder in cats...and are now ready to move on to the human testing phase.

"When you get a diagnosis that your child might not live to be two, you kind of lose hope and that's the way we were for a few weeks, even months afterward,," Sara said. "Then when we find out something like this is happening down the road, it turned our life around. It gave us hope and made us realize that's Porter's purpose."

Porter has gangliosidosis, otherwise known as GM1, a genetic disorder that attacks the brain and spinal cord, similar to Alzheimer's. Only one in every 360,000 children will be affected and there is no cure or treatment. Life expectancy for those born with the disorder is just two years.

"The really cruel thing about this disease is that they appear to be normal for the first six to eight months of their life, and then they begin to miss certain milestones like sitting up or rolling over or maybe they acquire those acquire those milestones and then they lose them," said Dr. Doug Martin of the College of Veterinary Medicine.

Martin has been researching GM1 for nearly two decades. Porter's story has motivated him and his team in their research.

"Our group has always been really hard-working and motivated. But when we met Porter it took everything to a whole different level. The urgency we feel with the research now is just orders of magnitude above what it had been in the past because we have a great little kid right herein front of us who needs the research we're doing or needs the results of the research," Martin said.

This weekend, Porter celebrated his 2nd birthday surrounded by loved ones and those working to find a treatment for future children born with GM1. The Heatherly's find hope in the fact that Porter's life will make an impact on the lives of future generations.

"Just because he can't do all the things that you dream about when you have a little boy of everything he could do as far as playing sports or going to hunt or fish or do those kind of things, his life still can have a huge impact on people," Michael Heatherly said. "I think that's extremely important for us because of all the things he can't do, there's so many things he can do, just in a totally different way."

ON THE WEB: To donate to GM1 research, visit the Auburn University College of Veterinary Medicine.

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East Alabama family fights rare genetic disorder

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