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"We need a lot more awareness about the disease," says Johnston. "There aren't that many doctors that know what Batten disease is all about. One day we'd like to see Batten disease as recognizable as Huntington's disease or cystic fibrosis. That when you say that, people would know what you're talking about."
People like Sam and Melinda Watson.
In December 1998 Sam and Melinda were directed to Dr. Robert A. Lewis, a neuro-ophthalmologist at the Baylor College of Medicine. Up until that point, the couple never even knew there was such a thing as a neuro-ophthalmologist, much less some sort of evil like Batten disease. As they drove to Lewis's office with their son, the couple was scared.
"You never get an inkling that you'll be handed something that can't be fixed," says Melinda. "As devastated as you are -- I cried and cried on the way there -- I always thought that whatever it was, it would be fixed."
At the Baylor Eye Clinic, where Lewis has his practice, the doctor put Luke through a series of tests. Lewis specializes in rare genetic eye defects and sees two or three cases of Batten, or NCL, each year. "These kids have very distinctive behavior," says Lewis. "They have a relative flat, noninteractive dynamic, so that when you talk to them, they are sweet kids, but they are very unemotional. And most five-, six- or seven-year-olds, you can kid with them. You can get them to laugh."
From what he saw in Luke, Lewis was suspicious immediately. The boy's ability to read an eye chart was poor, and the doctor noted a buildup of fatty cells on the optic nerves. To avoid alarming the Watsons unnecessarily, Lewis ordered a biopsy of the transparent layer over the white part of Luke's eyes, a sample of about one square millimeter. The sample was sent to a pathology laboratory where the cells were magnified 15,000 to 30,000 times to allow a look for accumulation of fatty tissue. He also sent off a sample of Luke's blood for a genetic screening.
"There is a common alteration or rearrangement in this gene among all [affected] families in North America," says Lewis. "About 70 percent have a particular alteration of the gene where a piece of the gene is missing, deleted. And that is a very easy alteration to identify."
Lewis told the Watsons that their son could have Batten disease but insisted that he wasn't sure. The couple went home to wait for the test results. And to pray.
"It was like everything was suddenly in slow motion," says Sam. "We went through a month or so of just praying like crazy that it wasn't going to be it, that he was just going blind."
The news finally came on February 18, 1999. Lewis told Sam and Melinda, along with Sam's mother, that Luke was dying from Batten. Not only that, but there was a good chance Rachel had the fatal disease as well. Even before Lewis could finish speaking, Melinda began shrieking and bolted from the office. "First you get furious," she says. More than two years later the pain hasn't receded much.
"There have been a lot of days when I thought I was not going to make it," she admits. "That I cannot live with this every day, all day. I'm going to have to end my life. And then you realize you can't, that you've got to be here to take care of the kids. So you have to work through how you're going to do that."
At first Melinda opted for denial, at least as far as Rachel was concerned. It's a time Melinda is not proud of. "I fought my husband for about four months over having her tested," she says in a hushed voice. "Even as I watched her vision go down, I knew. I just didn't want to get it confirmed yet."
That summer Sam convinced Melinda that Rachel had to be tested. In August, Rachel also was diagnosed with Batten. And as she watched her children's health deteriorate, Melinda Watson began deteriorating herself.
"I was very worried about Melinda," says Ann Watson, Melinda's mother-in-law. "I thought she was having a nervous breakdown."
The elder Watson's fears were shared by Melinda's co-workers at school, some of whom worried that Melinda might yet take her life. Instead, she turned to professional counseling, both spiritual and psychiatric. Sam, however, has pretty much resisted that path, preferring to deal with the overwhelming grief in his own way, like trying to balance work with spending time with his kids, time he is sure he won't get back. But, he admits, ever since getting the news, he and Melinda have experienced an almost never-ending sadness. "People ask me how I deal with it, how I make it," he says. "It's not like you make it. I wake up every morning, and it's like a new nightmare."
So far, it's a nightmare the Watsons have not shared with their children. Although Luke and Rachel know they are going blind, they do not know that in a few years they won't be able to do anything for themselves. It's a future that two fairly normal children -- and Rachel and Luke do seem normal despite their declining vision -- could never imagine.