AU researchers discover possible cure for GM1 disease - WTVM.com-Columbus, GA News Weather & Sports

AU researchers discover possible cure for GM1 disease

AUBURN, AL (WTVM) - Researchers at Auburn University's College of Veterinary Medicine believe they've cured a genetic, neurological disease in cats and are pushing on towards human trials that could save thousands of children. 

News Leader 9's Elizabeth White introduces us to the AU researcher and the little boy who inspires him daily.

Porter Heatherly's parents Michael and Sara have always known he is special, a gift from God, born with a purpose.

At 4 months old, Porter was diagnosed with GM1, a rare genetic neurological disease, related to the more common Tay-Sachs disease. 

With no treatment and no cure, the life expectancy is three years at most. 

"When you get that diagnosis, and the doctor says just take your child home and take care of them they are going to die, there is nothing you can do about it," said Porter's mother Sara. "I was like this was 2013 I didn't know there were any disease in the world you couldn't do anything about."

Porter is the only known case of GM1 in Alabama. Craving information and fellowship, the Heatherly's turned to the internet and contacted a Tay-Sachs national support group.  

"They said you know there is research going on at Auburn for GM1," Sara said. "Michael was like, I have no idea so he looked on the internet and got a picture and called me and said you won't believe this, he said he goes to our church."

"We sat in the same church service at AUMC for many, many months and spoke and said hello and had no idea this connection would develop," said Dr. Doug Martin with the Auburn University Vet School. "Porter is now who I see at night when I am deciding to spend one more hour in the lab or go home."

Since the early 90's, Dr. Doug Martin has worked with fellow researchers at AU's College of Veterinary Medicine.  

"I do research on inherited neurological disease in animals and what we are trying to do is apply therapy that works in animals to eventual human treatment," Dr. Martin explained. 

Dr. Martin's team has developed a one-time enzyme replacement brain injection. Many believe he's found a cure to Porter's disease and potentially many more. 

"We've treated cats living four to five times longer than untreated animals and their quality of life is so much better," Dr. Martin said. "We think it's time to more on to human clinical trials."

The road to FDA approval is long and expensive, with federal grants taking years to apply and earn, if ever. The Heatheley's have inspired AU to set up a crowdfunding site to raise the $500,000 needed. 

"Porter was the reason we wanted to do crowdfunding, we just didn't want to rely on federal grants," Dr. Martin said. "You have to wait a year even if you get it and at that point we were looking at 10-15 years, not five." 

Despite a meeting that seems predestined and has provided support and inspiration on both sides, Dr. Martin's cure will ultimately not help Porter.

"The animals study shows once you reach a certain stage it does more harm than good to do the surgery, and that's the toughest part of this whole thing, it's not the way it was supposed to go when we met this family... we are supposed to be here to help Porter and that's why we are here," Dr. Martin said. 

Sara and Michael see it differently

Although this potential cure will not save Porter's life, in a way it does give him immortality.

"Knowing 10 years from now, a kid can go to the hospital and get this treatment and life to be however many years old, and Porter had something to do with that… that's all that matters now," Sara said. 

There are about 40 related diseases to GM1 and Tay-Sachs, which are known as storage diseases. They impact one in every 7,000 children.  

The therapy developed at AU should be able to help treat all of them and provide parents hope.

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