A keen sense of humor and optimism have helped Heathe and Jenna (Renfro) Heller of Nocona cope with the kind of news every parent dreads.
After a downward spiral in motor and cognitive skills, their 19-month-old son, Hayes, was diagnosed with a rare and relatively new genetic disorder that affects the brain and immune system – Aicardi-Goutieres Syndrome.
The disease is severe and progressive. There’s no cure, and it’s not treatable.
According to the United Leukodystrophy Foundation, AGSs is generally fatal, or results in a persistent vegetative state in early childhood.
Hayes is believed to be one of just 100 children in the world with the diagnosis.
“My husband said we need to start playing the lottery,” said Jenna, a Decatur native. “We get the really odd chances.”
Despite the seriousness of the circumstances, the couple strive to find joy in what they’ve been dealt.
“From the beginning, we knew we had a choice,” Jenna said. “We decided we are not going to be miserable. We aren’t going to take anything for granted. It is what it is, and we’ll make the best of it.”
WITHIN TWO WEEKS
For 15 months, Hayes was a perfectly healthy, normal baby.
“He was pulling up, crawling, doing everything on target.” Jenna said. “He was so easy. He slept all night. Everyone commented on his demeanor. He would play by himself forever. He was just the happiest kid.”
He loved playing “I’m-going-to-get-you” games, swinging his golf clubs and riding on his dad’s saddle.
Then, around Halloween last year his parents grew concerned about his inability to walk on his own. Doctors and an aunt, who is a physical therapist, noticed muscle tightness and weakness in his legs.
“I took him to Dr. Leslie Hollis, and she noticed he was starting to lose tone,” Jenna recalled. “That was on Monday and by Thursday, he couldn’t sit anymore.”
Within a week, Hayes could no longer stand without support, or crawl. Soon after, he couldn’t sit unsupported.
“Our pediatrician had referred us to Cook’s (Cook Children’s Medical Center in Fort Worth), and we got an appointment to see a neurologist on Feb. 4 – months away,” Jenna said. “But Thursday, when he couldn’t sit up anymore, they sent us to Cook’s ER, and we started seeing the neurologist that day. It went downhill that quickly.”
As the illness progressed, Hayes developed difficulty using his hands, lost the few words he spoke and struggled to chew and swallow his food.
“By 16 months, he was back to the developmental level of a 3- or 4-month-old,” Jenna said. “Within two weeks, he was a completely different baby … That’s when they started doing all kinds of testing. They would refer us to this doctor, try this. Refer us to that doctor, try that.”
After MRIs, CT scans, blood work and visiting with a neurosurgeon, gastroenterologist, geneticist and neurologist, Hayes was diagnosed with a tethered spinal cord.
In December, he underwent surgery to alleviate some of the pressure on his legs, which had tensed up.
But that diagnosis explained only a fraction of the symptoms Hayes exhibited. There were unaddressed neurological concerns.
Last Tuesday, the family received an answer, all the way from England.
1 IN 100
Hayes’s doctors ran batteries of tests but were unable to yield any conclusive results. They began collaborating with their colleagues around the country and even across the world.
“It’s like you’re seeing a bunch of different doctors – from Boston, John Hopkins, Houston, Baylor,” Jenna said. “They send them labs and collaborate with them. Nobody has ever seen this case before. They’ve been baffled the whole time and learning right along with us.”
Spinal fluid and blood sent to a researcher in England tested positive for Aicardi-Goutieres Syndrome.
Symptoms usually appear within the first six months of life, and a subset of patients has a later onset of the disease – between 6 and 12 months.
“Hayes is different since AGS didn’t present until after 12 months,” Jenna said.
It’s marked by the loss of previously acquired motor skills and spasticity.
“Aicardi-Goutieres was only diagnosed in 1984, so it’s very new,” Jenna said. “Our doctors, even the geneticist, had heard of it but had no clue what it was. It’s that rare. Nobody even tests for it in America.”
It’s also unknown exactly which type he has.
“There are six genes that could be affected,” Jenna said. “He has two genes that are affected, two chromosomes that are off that make him have this. Genetic testing results (expected to come back in a couple more months) should confirm what type of AGS he has.”
As a result of AGS, Hayes has increased startle reflexes. He’s lost weight, but physically he’s growing normally.
“He’s tall for his age,” Jenna said.
Another part of the AGS is extreme irritability and discomfort.
“So he wakes up every hour at night,” Jenna said. “On a good night, he’ll sleep for a three-hour period. He’s very irritable because he’s hurting.”
He’s on muscle relaxers to alleviate some of the discomfort.
“But the problem with Aicardi-Goutieres is their lower half is really high tone so they’re very stiff, but their trunk and their arms are very low tone, and wobbly,” Jenna said, “Doctors are trying to find anyone who has seen this before to try to get ideas for at least comfort … They’re just doing trial treatments right now, and they’re not working.”
As an attempt to alleviate the discomfort and to maintain motor skills, Hayes goes to therapy twice a week – and will do so for the rest of his life.
“He’s regained a little bit,” Jenna said. “He can reach for things now with his hands, but he has trouble opening them. It’s kind of cerebral palsy like. He got to where he couldn’t eat, and he was choking. But that’s gotten better. He’s not choking anymore.
“But what they say usually happens is that he may gain a little bit back, just some small things. And then they plateau out and that’s it – forever.”
Hayes will receive a wheelchair, as well as a stander and braces for his ankles, in a few weeks.
Although he is unable to speak, his intellect appears unaffected.
“He recognizes and hears you and understands,” his mother said. “A lot of AGS kids, their intellect goes down. For now, he’s on top of that.”
At home, Jenna and Heathe work to preserve as many of their son’s interests as possible.
Hayes loves watching animals and people. The family enjoys days on the ranch and riding around on the golf course.
“We’ve found the things that we’ve been able to maintain and really try to capitalize on those,” Jenna said. “Plus, I don’t want him to just be a vegetable so I try to engage him all day long.
“We go from playing on the exercise ball to sitting in this one chair we have for him to taking walks … He’s pretty happy during the day if I keep him engaged. But it’s not the same child. He’s way more irritable than he ever was before. He used to be the most smiley baby and would go to anybody. It’s crazy the difference.”
Children with AGS have good days and bad days, with periods of up and down.
“Right now it’s a lot of good days, and then he’ll have a bad spell where he’s pretty miserable and he cries all day,” Jenna said. “But slowly, over time, the bad days outweigh the good days.”
But even in the face of such a grim reality, Jenna and Heathe hold to an unwavering faith and positive outlook.
“I know God’s not going to leave me,” Jenna said. “He promises to prosper us, and I just know he’s not going to give me something I can’t handle.”
She admits it’s difficult seeing other kids Hayes’s age doing things her son isn’t able to do.
“But you either stay on that, or you look at what you’ve got and make the best of life as it is,” she said. “My mindset goes to the other. It’s just not a choice. I’m going to love life no matter what it gives me. My job is to love it.”
And to focus on the blessings and find joy every day.
“We don’t know how long we have with him, and especially cognitively to be able to recognize us. Every day is a celebration,” she said. “It’s a blessing when we get up in the middle of the night with him. It’s a blessing when he’s having those really bad days and he just wants you to rock him. You just cherish it instead of complaining about wanting to get other stuff.
“The house is a little messier, things don’t get done as much, but that doesn’t matter. We are cherishing our son.”
For Jenna and Heathe, those moments are the jackpot.
HOW TO HELP
Friends of the Heller family have organized a benefit team roping Sunday, Feb. 9 at NRS Arena in Decatur
The event begins with church at 7:30 a.m. Books open at 8 a.m., and roping starts at 9:30.
“Heathe ropes, so I figured team roping was an event where they could enjoy themselves,” said Sammie Elliott, one of the event’s organizers. “Money doesn’t need to be an issue when you’re going through something like this.”
There will also be a calcutta at 9 a.m., concessions, a live auction for a four-wheeler and a silent auction. Items include Mavericks game tickets, a generator, baked good, pans, haircuts and gift certificates for Decatur restaurants.
Donations may also be made to the Hayes Heller account at North Texas Bank in Decatur or at www.giveforward.com/fundraiser/bsr3/help-for-hayes.
For more information, call Sammie Elliott at 940-255-4146 or Rachel Shinn at 940-389-9238.
“The people in our counties – Wise and Montague – that have pulled together, are just amazing,” Jenna said. “There are so many blessings around. There’s too much good to focus on one bad.”