By Morgan Bryce
Every day, four-year-old Porter Heatherly fights for life. Every breath, every movement is painstakingly made, and he is unable to speak or take care of himself. However, his struggle is impacting the lives of many, including those closest to him.
Porter has the infantile form of GM1 gangliosidosis, an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. According to information provided from the U.S. National Library of Medicine website, early signs of GM1 include unusual eye movement and the ocular inability to properly track objects. Sara, Porter’s mother, said she noticed his eyes doing this when he was three months old, back in January 2013.
“We went home for Christmas, just after he turned three months old. He wasn’t tracking objects with his eyes like we thought he should,” Sara said. “Me and Michael talked about it, and we thought we would just mention that to our pediatrician at his four-month-old checkup.”
After returning home from the trip, the problem continued, and Sara decided to take Porter to his pediatrician before the scheduled check-up. Following the examination, the pediatrician at first told them to observe, and see if there were any changes. But only a day later, they received a call from him saying that he recommended a visit to a pediatric ophthalmologist in Birmingham.
“There was a week there before we had our visit with him, and we kinda started thinking to ourselves, ‘maybe something might be wrong.’ We made ourselves a little bit sick over it, and wondered if he couldn’t see or thought in the worse-case scenario he’s going to be blind,” Sara said.
During the ophthalmologist’s examination of Porter, it was discovered that he had cherry-red spots on his eyes, an indicator of 13 to 14 possible genetic disorders.
Only an hour later, the Heatherlys were sent to the University of Alabama-Birmingham hospital to see a geneticist, and there doctors took samples of his blood and urine for testing.
Nearly a week later, they received a call from the geneticist’s office, informing them that Porter had GM1 gangliosidosis, a disease with a two-year life expectancy. Despite the knowledge that their son had a terminal illness, Michael, Porter’s father, said he and Sara were glad to have found out so quickly.
“It’s a hard thing to lay out to somebody that your child has a terminal diagnosis. What can they say to you when you tell them what his diagnosis is? How can you respond to that?” Michael said. “At first, it was hard to open up … but eventually it got easier, the more people we told.”
Realizing now that time with Porter was precious, Michael said he came up with the idea of celebrating his birthdays every month, never knowing when his son might succumb to the disease.
“We wanted to just do everything we possibly could with him while he was in good shape and in good health. It was a blessing to have such an early diagnosis,” Michael said.
Over the next few months, Porter’s health progressed, and peaked at nine months. After nine months, however, Sara said Porter’s muscle tone and eyesight began to regress, and his health began a gradual decline.
At 17 months old, Porter began experiencing seizures and being fed through a g-tube, and at two years old, he started using an oxygen tank to assist with breathing.
Given a time frame of only two or three years to live, Porter, who is now four years old, has well exceeded that assessment. However, the monthly-birthday tradition has come to a halt because of his rapid decline, and Michael said he and Sara now make it a day-to-day appreciation for Porter.
Throughout the journey that the Heatherlys have been on the last few years, Sara said their faith and support group has always played a key role.
“We have had great support from our family, friends and church family … I think a lot of people could take this experience and see a lot of negatives … but I could talk for hours about how God has placed the right people in our lives at just the right time in our own church,” Sara said. “Having an experience like this helps you see a bigger power at work here. There are so many positives for us, like the people we’ve met through this journey. We definitely believe God had a hand in that.”
Since the time of Porter’s diagnosis, Sara has had the opportunity to travel to conferences across the country and meet parents of children like Porter. Seeing these other families with a child sharing similar conditions to her son inspired she and Michael to create a Facebook page called “Prayers for Porter” and a fundraising event to raise awareness about GM1, using Porter’s birthday as an opportunity for people to come celebrate his birthday and donate money to the CureGM1 foundation.
Currently, there is still no cure for GM1, but positive results from gene therapy trials in cats conducted by Auburn University professor and College of Veterinary Medicine researcher Douglas Martin, Ph. D., give hope of one day being able to eradicate the disease.
“According to most numbers, approximately one in every 360,000 children will get this disease … direct injection into the brain and through the bloodstream are the ways that we can do the gene therapy, and the bloodstream option should be available by the end of next year,” Martin said. “I started doing research on this disease in 1991, and my goal through this research is to find a means of improving their quality and duration of life.”
Michael said that despite this research being too late for Porter, he hopes that it will help out other families who find themselves in a similar situation like the one they faced years ago.
“We want Porter to be a part of that. We hope that his life impacts the research and help provide the funding to be able to have a cure for this disease,” Michael said.
Through the hardships of seeing their son battle this disease, Michael and Sara said that they are proud to have been able to be parents to a boy like Porter.
“It’s been great to see the support that we have for Porter on his Facebook page … there’s tons of folks who know us as Porter’s parents or me as Porter’s dad. It’s cool to be called Porter’s dad and the fact that people know who he is,” Michael said.
Sara said that God placing Porter into she and Michael’s life was a blessing.
“I sit back and think to myself, ‘is this real? This beautiful little boy that God has entrusted us with that is affecting and having such an impact on everybody around him?’ “, Sara said. “I also think, ‘how in the world did we get so lucky to have him in our lives?’ It’s truly amazing to me, and makes me tear up to think about it. Having him in our lives has been a positive.”
To follow Porter on Facebook, look up his page called “Prayers for Porter”, and to help donate to the CureGM1 foundation, visit their website, www.curegm1foundation.org.