Shortly after Sara and Michael Heatherly learned about GM1 Gangliosidosis and the effect it would have on their then-4-month-old son, Porter Heatherly, they immediately started to celebrate Porter’s birthdays by the months. Sara and Michael said they did not know if Porter would live to be 14 months or 20 months because there was just no way to tell.
Porter was diagnosed with a rare genetic disease called GM1 Gangliosidosis on Feb. 5, 2013. From that day forward, Sara and Michael have devoted their lives to be being the strongest parents for their son and to helping Douglas Martin, associate professor of anatomy, physiology and pharmacology in the College of Veterinary Medicine, find a cure for GM1.
GM1 Gangliosidosis is a lysosomal storage disease that progressively kills cells in the spinal cord and brain. Symptoms begin to show around 9 months, and life expectancy is only about 24-36 months.
The Heatherlys will celebrate Porter’s 36-month birthday at the Auburn University Club on Saturday, Sept. 12. One hundred percent of the proceeds from the event will go directly to the Cure GM1 Foundation, which was started by Christine Waggoner, whose daughter, Iris, has juvenile GM1 Gangliosidosis. The Cure GM1 Foundation seeks to raise money for the research that is being done by Martin at Auburn University.
“Ultimately to have this fundraiser on an annual basis long after Porter’s gone is our ultimate goal," Michael said. "Just to have something that is Porter’s legacy and something that stands for what his life meant to us and to carry it on is more important to us than just to raise money.”
Sara and Michael met Martin after the 8 a.m. service at Auburn United Methodist Church. Martin had been conducting research on GM1, and trying to find a cure since the early '90s.
“It was just crazy that out of all the places in the country Auburn University and University of Massachusetts are basically leading the research in this disease, and not only does our son live in the community, but Dr. Martin goes to our church, to the 8 o'clock service, and he lives five minutes down the road from us,” Michael said. “It is just amazing that all of those things could come together, and so at that point, we realized that there was more to this than just the fact our son has this disease, and we are trying to take care of him. We thought, let's let him being in this community try and help push this research and help it jump-start and get going because it is so hard; and the funding is so limited. So that is where we want to keep things going and work with other families just to make sure people are aware of what GM1 is.”
Now that “the technology of gene therapy has caught up to the idea of gene therapy,” according to Martin, he and his team have made advancements in their research. Martin has been injecting GM1-infected cats with a modified virus that stops the replication of the disease. If everything goes as planned, Martin said he could see clinical trials starting late 2017.
“The untreated animals would only live to be about 8 months of age, but the treated animals are out over five years now, and many of them are virtually symptom-free,” Martin said. “They have some slight weakness in their hind limbs, but other than that, if I put them in a room with 10 normal cats, I do not think you could pick out the treated animals from the normal ones; it is pretty amazing.”
The Heatherlys said they receive supportive messages all the time from all over the world.
“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.”
Purchase tickets to Porter’s third birthday party at www.EventBrite.com.Tickets cost $25 for entry and $50 for entry with food.
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