Fatal childhood diseases on the run?

AUSTIN (KXAN) - It can begin in the most innocuous of ways: A child, aged 4, 5, or 6 walks into an office at school. A grownup guides the little boy or girl through a simple vision test.

That’s just how it went for the Thacker family in the Williamson County town of Taylor.

“The first clue," said Todd Thacker, a father of two, “was a letter from our (son’s) kindergarten teacher’s class. They sent a letter home saying that he did not pass his vision test.”

Sometimes, though, the beginnings of juvenile Batten disease , a rare but always fatal childhood disease, manifest themselves in more horrifying ways.

Jace

That’s what happened in Kyle, where Rachel LeBlanc lives with her now 8-year-old son, Jace, an outdoorsy type who relished riding his bicycle and collecting trophies by racing small motorcycles.

“Jace was coming toward me one day,” LeBlanc, “and he had his hands covering his face and just blood everywhere.

“And what had happened was he was playing tag and he ran right into a pole chasing a kid; he didn't even see it. I think he got four staples in his head.

“Two days later we were at the grocery store, in H.E.B., and they have those big supporting columns in the middle of the grocery store and they're mirrorized; they kind of have that mirror aluminum casting on it.

“And I was looking down talking to him and he was looking straight and I said, ‘Jace, watch out!’ and he slammed right into this huge pole like it wasn't even there.”

That was when LeBlanc first knew something was wrong.

Such developments, though troubling, don’t necessarily raise huge alarm bells. But when parents subsequently take their child to an eye doctor, they wind up encountering a worried look and a referral to a specialist.

With Jace, an initial diagnosis pointed to an eye condition that would lead to blindness, but a second opinion revealed an even more earth-shaking truth. The boy did, indeed, have Batten Disease.

Austin and Lacey

Back in Taylor, the Thackers had come up against even more horrible news: Not only did Todd and Jessica Thacker’s son, Austin, have Batten, so did his little sister, Lacey.

I first met the then 6- and 5-year-old children in 2007, when both were already losing their sight.

Now Austin and Lacey are all but blind, able to distinguish only light and dark forms, and other symptoms are rapidly advancing.

“They're both having seizures,” said Todd Thacker. “They're on seizure medication to try to control it, but, you know, in the last few months they've both had seizures.

“This last one was at school,” he went on. “It was a big production that the school put on: an ambulance, the whole nine yards.”

And there’s more: behavior issues, loss of motor skills, loss of short and long-term memory, the need for feeding tubes due to the loss of the ability to swallow, before finally culminating in full-blown dementia and death by the late teens or early twenties.

“It's quite devastational to everyday life,” Todd Thacker said, “when you learn that your kids have a terminal disease and all this, you know, heartache that comes with it.

“It was hard, the initial thing was hard to learn about as a parent, but then to realize that each one of my children is going to have go through, experience the loss of sight and everything that comes with this disease.

“You know, it was very devastational; it affected every part of everyday life.”

Now, even a casual interaction with Thacker’s children reveals the onrushing horror of Batten Disease.

A simple question about their ages, 11 and 10, respectively, brings this from Austin and Lacey.

Reporter: “So how old are you guys?”

Austin: “10.”

Reporter: “How about you, Lacey?”

Lacey: “I'm 10. I'm 8; I'm 8. Austin's 8; I'm 10.”

Indeed, neither child can even tell you the date of his or her birthday.

“They're not learning,” said their father. “They're remembering (some) stuff that they have learned but they don't seem to be learning much new, you know, cognitive things.”

Jace's mother

Back at his Kyle home, Jace has lost all of his vision and as he and his family members try to adjust to that, other problems just keep coming.

“He'll have some behavior issues,” said LeBlanc, his mother. “He'll have really bad migraine [headache]s, stomach aches and he'll be just really tired and lethargic and then he kind of bounces back.

The bounce-back, LeBlanc believes, may be related to a clinical trial Jace is participating in. The trial is testing an immune-suppressant drug designed to hold back the progress of symptoms. Lately, though, issues are multiplying.

"It's been his behavior," said the boy's mother, "definitely some short-term memory loss, some stuttering. He really has problems communicating and expressing himself and it really frustrates him and really is a big stressor for him.

“It's really, really difficult to go anywhere in public with Jace because you never know; you never know what's going to happen. He had a breakdown in a restaurant and it was difficult.

“And people stare at him and I

feel badly. I think, you know, I think to myself, ‘Thank God he can't see this.’”

Sometimes, the worst symptoms come with nightfall.

“Night terrors are a big part of this,” said LeBlanc, “nightmares and he'll have hallucinations. It's just bringing him back to infancy, day-by-day.”

As she talks, Rachel LeBlanc’s voice begins to break.

“I just don't wish it on anybody,” she said. “It's very difficult to watch your child [go through this].”

Austin and Lacey's father

For the Thackers, though, time is smoothing out some of  the rough edges of Batten. In 2007, Todd and Jessica Thacker made no secret of their desperation.

“It's really going to take you coming out here talking to us,” the father said, “us getting on the news and saying, ‘Hey, you know, look everybody, this is a whole other big problem.”

“That's our job in our kids' eyes, his wife added, “and so we have to hold up to that. We have to help them.”

Five years later, though, Todd Thacker is calmer.

“It has a lot more to do with living in the moment and having fun,” he said, “appreciating what we do have while we do have it.

“You would think it's this big tragedy and it is, but at the same time there's some positive things to come of it. We're having a lot more fun than I think we did when we first found out. We’re learning how to handle it.”

Unfortunately, however, the disease has taken its toll on the family structure, as well. The Thackers are divorced and the children live with their father now.

“It definitely made the marriage just crumble,” Thacker said. “I wouldn't say that it's all Batten Disease but it probably was a very big contributing factor to it.”

These days, a nanny cares for the children after school while Thacker works at a Taylor manufacturing plant and life, such as it is, goes on.

“It is what it is,” Thacker said. “You know, the children are dealing with it stupendously. And so I feel like it's my obligation to equally try to deal with it as honorably as they are.”

Christiane

That would be the end of this story, perhaps, if not for another mother and father, this time from Austin, who were able to turn their rude awakening to Batten Disease into a full-on attack not only against that condition, but against what they say are hundreds of other known rare childhood disorders, many of them also fatal.

Unlike so many affected parents, the Bensons were in a position to strike back. Craig Benson, you see, works as a biomedical executive and routinely interacts with researchers and pharmaceutical companies.

So when their daughter, Christiane, was diagnosed with Batten, the Bensons moved quickly to create the Beyond Batten Foundation in an effort to speed up the discovery of ways to defeat the disease.

“It was a beautiful day, Charlotte Benson recalled about her daughter’s birth in a Beyond Batten online interview, “I never dreamed she would be so beautiful and so perfect.”

“That was a fabulous day of our lives,” her husband, Craig, added, “really, to look in your little girl's eyes for the first time.”

Now, 10 years later, their daughter continues to inspire the Bensons to press ahead with their work, partly to benefit future Batten patients, but also to come up with stop-gap solutions for current patients, including Christiane, to slow the progress of the disease long enough for yet-to-be-found cures to arrive.

Progress

In only three years, the progress has been stunning. Working with researchers from all over the world, Beyond Batten Foundation has created a test that can detect not only Batten, but more than 600 other horrifying childhood diseases. Some of those are treatable and that means a definitive diagnosis is crucial.

“You have a child tested when they're born,” Craig Benson said. “You get them on the treatment. The sooner you can get anybody on the right treatment for the right condition in almost every situation, the outcome is better for the child.

“It’s already had a dramatic impact on several children, their course of therapy and how the doctors were treating them.”

Even more important, perhaps, is the foundation’s new screening test, currently being rolled out at Children’s Mercy Hospital in Kansas City . Administered to prospective parents, the screening will be able to predict potential carriers of Batten and other rare childhood diseases.

The test, though, came too late for Jace Gallaway’s parents.

“Every time we conceived,” said Rachel LeBlanc, Jaces’ mom, “we had a 25 percent chance of having a child with Batten's and now we're just living with it. I mean, what are the odds? Well, we're the odds; it happens.”

In the future, parents will be able to know in advance about their potential vulnerability.

“One thing we learned in our research,” Craig Benson said, “is that each one of us is carrying at least three of these rare disease gene mutations and we're unknowingly passing those on to our children and our grandchildren.

“And so by knowing these risks, a parent can determine if both parents are carrying the same gene