- Cullman, Alabama


November 17, 2013

‘Cherish every smile’: For son diagnosed with rare genetic disorder, every moment counts for Cullman couple

Michael Heatherly was in his element — walking through the woods, making notes on the timber stands for the management company he works for, and enjoying being outdoors.

Then his phone rang…It was his wife, Sara. That phone call would change his life forever.

Michael and Sara met while still at Cullman High School in their senior year. They’ve been inseparable ever since.

The couple attended Wallace State Community College, then in 2005, they transferred to Auburn University where Michael attained a degree in forest management while Sara became an adjunct at the College of Architecture, Design and Construction.

They were married in 2009, with a bright future ahead of them. In 2012, they found out that they were expecting their first child. It was a good time for the couple, Michael was working in his chosen field, Sara was working for a construction company, and everything was going smoothly.

Their son, Porter, was born Sept. 14, 2012. A beautiful baby, he was the first grandchild on either side, so of course he was welcomed in grand style into an adoring family.

But as he grew, he seemed to be missing some of the important milestones for his age, like visually tracking objects. Right after Christmas, they noticed a twitch in his eye.

Although she was a new mother, Sara’s maternal instinct kicked in. “I knew that something was wrong,” she said. At Porter’s four-month checkup, Sara mentioned this to her pediatrician, Dr. David Smalley.

At first he didn’t think it was anything for her to worry about, but after sleeping on it, he called to tell Sara that he had set Porter up with a pediatric ophthalmologist, Dr. Thomas Metz. “Our pediatrician was really on the ball to have made that call,” said Michael.

Their pediatrician was also their Sunday School teacher. “We had been looking for a church home and decided on Auburn United Methodist Church,” said Michael. “We actually chose a Sunday School class that was not in our age group, but we liked it and felt comfortable there.”

“Between Dr. Smalley and the ophthalmologist and our church, there is no way to explain the circumstances other than us being put into place by a higher power,” said Michael firmly. “He put us there.”

Porter’s condition was one that the pediatric specialist had heard of but never seen before. He did the referral to be sure.

“When we got to Dr. Metz’s office, he dilated Porter’s eyes and discovered what they call ‘cherry red spots’,” said Sara.

There were several genetic diseases that could be causing Porter’s condition, but without the help of a geneticist there was no way of isolating which strain or disease it was.

“I don’t know exactly what it is,” he told the young parents.

He went on to tell them that he had arranged for them to see a genetic specialist at Children’s Hospital in Birmingham within the hour.

“I think we both began to realize how serious this was at that point,” Sara recalled.

The geneticist, Dr. Maria Des Cartes, was sure that they were dealing with a genetic disorder, but she would have to do tests to isolate it.

“Cherry red spots are never an indicator of anything good,” said Michael.

The couple went to Children’s so that Porter could have urine, blood and skeletal samples taken for analysis. Their day had started out as a simple trip to the eye specialist. “We thought that maybe Porter might need glasses,” said Michael. “Then all of a sudden there we were at Children’s Hospital, which is somewhere you never think you’ll be.”

Every child they passed in the corridors was in a wheelchair, bald or both. “And there we were, potentially in the same situation,” he said. “There was certainly the fear of the unknown.”

“And Porter was so little,” said Sara, softly.

It was heartbreaking for them to see such pain and suffering in such young children. They were only in their late 20s themselves. It was a hard pill to swallow; they were both in shock at the morning’s events so far. It would only get worse.

They started testing with the most three likely diseases, which were Tay Sachs, Sandhoff Disease and Gangliosidosis, referred to as GM1.

On the third try they hit paydirt. It was a word they’d never even heard of — gangliosidosis. They would know within seven days.

It was a long week for the Heatherlys. “We tried to be normal, but every time the phone rang with questions about our medical history the anxiety would build,” said Sara.

She delivered the news to her husband.

When Michael got that phone call in the woods that day, he was reeling from shock, alone among the pines, he released his grief. This couldn’t be happening. She was in the car with her boss, sobbing uncontrollably. It was almost too much to take in.

“Porter has GM1,” she said through tears. They knew about Tay Sachs, but didn’t really know how to react because this was something they’d never even heard of.

 When Michael looked it up on his phone within minutes of Sara’s call, he discovered that the mortality rate for GM1 children is only two years or less. Even Tay Sachs patients usually lived for three to five years. This was unbelievable. To look at his son and realize that the cooing, smiling, angelic little boy was dying was a nightmare that they couldn’t awaken from. “Tay Sachs would have been awful, but this is worse,” thought Michael in agony.

At this point, Porter was four months old. The sand was already running through the hourglass and they hadn’t even known.

Porter was in daycare. When Sara arrived, there she was still in complete denial. “You could look at him and physically see nothing wrong,” said Sara. “I picked him up, he looked so innocent and sweet, but now with this horrible diagnosis, my whole prospective had changed.”

“The geneticist had said that the daycare might not want to be responsible for him any more because of the seizures that accompany GM1,” Sara related. In less than a month they removed Porter from daycare. He was almost six months old.

That was Feb. 5, 2013. Both Sara and Michael’s birthdays were two days later. There wasn’t much cause for celebration at that point in their lives.

Emotionally, sadness overrode everything else. “Sometimes I think that it might be a blessing that he will never have to go through the terrible things happening in this world,” said Sara.

“I know it’s selfish, but what I think of sometimes are all the things I wanted to do with him — hunting, fishing, sports, taking him to the woods…” said Michael, unable to finish the thought.

So that’s what they do. They savor every minute. They have taken their precious baby to Braves games, to the beach, to places that he is too young to enjoy, but that he will never have the chance to see. “At six months we took him out to our hunting land,” said Michael. Of course, they take tons of pictures.

Porter’s symptoms have become more progressive as the days have passed. “At first he was making progress, but now that seems to have leveled off, and even regressed,” they agreed.

“At six months he could roll over, but he never sat up,” said Sara. “He was bringing toys to his mouth, but about eight or nine months, he peaked on learning and doesn’t do those things anymore.”

They learned that Porter has trouble eating, often choking on his own saliva. To counteract this, they thicken his formula and food.

Both Michael and Sara continue their work. For as long as possible they will go through the motions of a normal life... as much as possible. They have been fortunate to have found three college students, roommates, who care for Porter in shifts. “We will have to reevaluate our situation as the need arises,” said Sara.

The day that Porter was five months old, his dad brought him a birthday card. “Today I’m five years old!” it proclaimed cheerfully on the front. “There wasn’t one for five months,” Michael explained.

That started their family tradition of celebrating each month as if it were a year – with a birthday party for Porter. Sometimes it’s just a cupcake shared with his mom and dad, other times it’s a big blowout with family and friends, as with his recent one year party. “It sort of brings things into prospective,” said Sara. “It’s been good for us.”

Meanwhile, back at their church, things just keep falling into place. It seems that there is a veterinarian there who is doing studies on this very rare disease of Porter’s.

They’d been attending church services with him for the past two years but there was never the need for the connection before now. However, the research Dr. Doug Martin is conducting at Auburn University is critical for babies with Porter’s disease. They found out about his through the Tay Sachs Foundation.

“We’d been speaking and nodding to him in the 8 a.m. services all that time,” said Michael. “He has been doing research for 20 years. They now have two cats with GM1 who have lived past four years, which is a real breakthrough.”

Federal monies for this research are practically non-existent because the estimated number of children with GM1 in the U.S. is thought to be around 15. “They are trying to push their findings through the FDA so they can fund more studies, but this isn’t like cancer, where it effects a lot of people, so the money isn’t coming in,” said a frustrated Michael. “I think that if the federal money was there for these rare genetic diseases, they could find something to help. They seem so close with the research, but money is the limiting factor.”

Dr. Martin agrees. “We’ve talked to a Dr. Tiff at the National Institute of Health in Washington, a couple of times,” he explained. “There is also some research going on in Minnesota.”

Dr. Martin believes that if the money were available for research that there could be a real breakthrough in as little as two years. “If we could only get started on the safety studies we need for FDA approval we could see something from our clinical studies, but it costs about $500,000 to get these studies to the FDA. Tay Sachs has some donors, but GM1, so far, has none.”

According to Dr. Martin, this disease is sometimes overlooked because of its rarity. “But there is light at the end of the tunnel,” he pointed out. “It’s only rare until you know someone with the disease.”

He has hope because of a cat by the name of Dessie, who is four-and-a-half years old. She has GM1. “Most untreated cats only live for four months,” he explained.

For the Heatherlys it might be too late, but they want to speak out for their future children, and for others who have received this devastating diagnosis.

The Heatherlys have spoken to parents of some of the other GM1 patients. One family from Wisconsin has a child who has lived past the expectation. He is now two years old.

After four appeals to their insurance, the Heatherlys tried one of the experimental treatments, costing $20,000, but it turned their sweet, loving baby into a “zombie”, so they said, “No more” and have made the decision to stop those treatments. Their geneticist has pulled all of the clinical trials in the world.

Since this is a genetic disorder, Porter’s DNA sequence has been mapped. If they decide to have another child, they can find out before the birth of the baby if the gene is present. The possibility of a second child having GM1 are 25 percent that it would have the disease, and 50 percent that it would be a carrier. The chances of someone in the general population having the gene are one in 300. Both Michael and Sara are carriers.

“We’ve been together for 10 years,” said Sara. “I always knew that Michael was who I wanted to be with, but then something like this happens and it puts a different spin on our relationship. This has brought us closer and we don’t play the “what if?” game. In the end, we hope to have the opportunity to have more children.”

“We share an unbelievable love for Porter,” said Sara.

“When you have one year to live — and we don’t know exactly when — you cherish every smile, every stretch as you pick him up from his crib. We notice every little detail, where other parents might take little things for granted,” said Michael.

Understandably, their frustration is tremendous. However, these brave young parents are taking advantage of each moment with Porter — making memories as the clock ticks inevitably onward.

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