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.
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?"
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."
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."
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.
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 mutation. Therefore, they would know their risk of one of their children
possibly having a given condition.
"They might choose not to have children; they might choose to adopt; they might choose in vitro process. They would have at least information and choices to make there before they start a family."
But what about treatments and cures? Progress, it appears, is coming there, too, particularly at Texas Children's Hospital in Houston .
"We're hopeful that we may have a treatment in a clinical trial for a child with Batten disease next year," Benson said. "So we can see that at least a treatment, I'm not saying it's a cure, could be in development and moving towards a clinical trial next year."
And in a serendipitous cycle, royalties derived from the sale of the screening test will come back to Beyond Batten Disease Foundation to continue the effort to find treatments and cure.
"We are going to need more funding," Benson said. "We are going to need more resources to continue advancing the other avenues of promising research that are out there, to get the next one ready for a clinical trial."
But what makes this so exciting, Benson argues, lies in the fundamental nature of these diseases. Because, individually they are so rare, there has been little incentive in the past for researchers, donors and drug makers to invest the millions of dollars needed to make progress.
Valley of Death
That gap, between the discoveries that are made in laboratories and the development of actual treatments, is known in research circles as the, "Valley of Death."
"That's where discoveries go to die," said Benson, "and if there's not somebody on the basic science research end thinking about, 'OK, how is what I'm finding out right now in my laboratory translating into a treatment at the bedside of a child or another patient,' then it's really not doing us a lot of good."
But here's the key: Many of the rare diseases share many traits in common. They also appear to have common elements with more widespread disorders, like Alzheimer's Disease.
Therefore, with prodding from Beyond Batten Foundation, interest is growing in scientific and government circles for a big push against the conditions. At the Federal Drug Administration (FDA), Benson says regulators are loosening some requirements to quicken the pace of discovery and implementation of treatments.
"If you get rare disease designation," he pointed out, "then you get some special treatment in terms of your clinical trials, some fast track approval status, particularly for some of those rare diseases that do not have any treatment or cure that exists for the patient right now.
The National Institutes of Health, he added, is making more money available to support the research effort. And with all the enhanced attention, drug makers are coming onboard, as well.
"So there are some special incentives," said Benson, "that have gotten pharmaceutical companies a lot more interested. And as you look across some of the public pharmaceutical companies, the ones who are doing the best right now are actually those who are working in rare diseases."
Much of the hopefulness is rooted in the experience of the Ashkenazi Jewish population , which has been particularly susceptible to a variety of genetic disorders, including Infantile Tay-Sachs disease which kills children by around age four.
"Over the course," Benson said, "of a generation of applying carrier screening, genetic counseling and religious counseling, it has actually reduced the incidence of that condition by 95 percent."
The foundation still needs more money, more volunteers and plenty of political pressure, but progress is coming quickly in the realm of childhood diseases that are only rare until they hit your family square in the face.
"We've got a lot to do," Benson said. "We've still got a long way to go, but I'll have to say, even in just 3 1/2 years of really being at this, we have made a tremendous amount of progress and perhaps, for the first time there really is hope."
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