OPELIKA, Ala. — With balloons in the shape of a four, the Superman logo and more filling Michael and Sara Heatherly’s home, it is apparent that their son, Porter is celebrating his fourth birthday. His parents call it his 48-month birthday. This tradition started back in 2013 when he turned four months old.
“When you realize your child has a terminal illness, and they may only see two or three birthdays, we decided we wanted to celebrate him more than two or three times in his life,” Porter’s father Michael said.
When Porter was four months old, he was diagnosed with GM1 Gangliosidosis, a rare genetic disease. The disease affects 1 in 200,000 births.The life expectancy for those who have the disease is two to three years. The Heatherly’s said they never thought that they would have Porter by their side to celebrate birthdays past that mark.
His mother Sara said Porter lacks a certain enzyme that breaks down a specific protein. Since the protein can not be broken down, it builds up on Porter’s organs. She said his brain and spinal cord are heavily affected, and his spleen, liver are enlarged.
When Porter was born, he was a healthy child, but they noticed a slight twitch in his eye. They said he was not tracking as much. Thinking it was strictly a vision problem, they took him to a pediatric ophthalmologist. Soon after, they started to have suspicions that something was awry, and then they received the news that Porter had GM1 Gangliosidosis. His parents said they can remember the day like it was yesterday. The Heatherly’s said it could have been the worst day of their lives, but they have turned it around in big way.
“It’s made us stronger together,” Sara Heatherly said. “It makes us look at things differently. It makes you realize what’s important. It makes you realize that some of the day-to-day things that happen are minimal in comparison.”
The family adds that talking about their sons ailment has brought them comfort, and it has allowed them to meet many wonderful people along the way. Their ultimate goal is to be able to tell families who have children who suffer from GM1 that there is hope. For a couple of years, the family has worked with the Scott-Ritchley Research Center at Auburn’s Veterinary School on research into GM1. Sara said they are very close to having the gene therapy go to clinical trials.
The family said that each day with Porter is a gift. They cherish every smile, every second he is with them, not knowing if it could be their last.
“For the past six months or more, we’ve been kind of going on a day-to-day basis for his health,” Michael Heatherly said. “You can wake up one morning and he’s having a lot of trouble breathing or something. It’s kind of a roller coaster up and down. It is a day-to-day, and we really don’t look too far out into the future. We just take one day at a time and make the most out of each day.”
On Oct. 1, the family will be holding a combination fundraising event for GM1 and a birthday celebration for Porter at the Auburn University Club from 5 p.m. to 9 p.m. Last year’s event raised $35,000 for GM1 research.
Tickets can be purchased here