Hope for a Cure: Auburn Veterinary Medicine

Imagine taking your only child to the doctor for his regular check up. During the visit you mention that your son has a strange twitch in his eye (because you’re a great mom and you notice these things). The pediatrician refers you to an eye doctor, just to rule out anything he missed, but besides that, everything seems normal.

Worst case scenario, you expect blindness. You and your husband have prepared yourselves for the possibility. But when the ophthalmologist dilates your son’s eyes and looks inside, he sees red cherry-red spots, which signify the presence of a progressive, fatal neurodegenerative disorder called gangliosidosis type 1, or GM1, a Tay-Sachs related disease.

Now imagine your despair when you are told there is no treatment or cure for the disease that will eventually attack your baby’s brain and spinal cord, causing not only blindness, but deafness, developmental regression, and a life expectancy of only two years.

Sara and Michael Heatherly, Auburn Alums and residents of Opelika, lived this nightmare when their son Porter was diagnosed with GM1 on February 5, 2013. "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.

However, the weight of hopelessness was soon alleviated, even as the family celebrated Porter’s birthdays monthly, knowing their time with him was limited. The Heatherlys discovered through a national foundation that one of the world’s leading GM1 researchers, Dr. Douglas Martin, went to their church and lived five minutes down the road.

Martin, a veterinarian researcher at Auburn's College of Veterinary Medicine, studies GM1 in cats and has helped develop a gene therapy for the disease. He is part of an international group of researchers working to move the treatment to human clinical trials. The goal is to find a cure for feline GM1 and, through research partners across the United States, apply similar therapies that translate into human medicine.

“When we find out something like this is happening down the road, it turned our life around,” said Sara. “It gave us hope and made us realize…Porter's purpose." Because rare diseases are less likely to receive funding, the process to raise the $500,000 necessary to make steps toward FDA approval will be a long road. But the Heatherlys have headed up the fight to find a cure, hosting several fundraisers with Porter as the guest of honor.

“We're using Porter as the face of the disease to show people why they should donate, so other people won't have to suffer through this,” Sara said. “There's no answer now, no hope for treatment except for the research going on through Auburn."

Martin said of the team at the Scott-Ritchey Research Center, "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.”

So in the midst of tragedy, the Heatherlys and the Auburn College of Veterinary Medicine have teamed up to bring healing to other children like Porter in the years to come.

“Porter’s never spoken one word in his entire life and for him to make this much of an impact through this community and in his Facebook presence, it is just truly amazing to us," Sara said. "He has motivated us to do things that we never would have before and for that we are truly thankful.”