MERIDEN - Felix Pagan talked without whispers from the porch swing set up in his living room. His 9-year-old daughter Maria slept across his lap, undisturbed. She was out cold, napping through a volley of voices. Conversation, even up close, didn't rouse her.
Sitting alongside in a green molded lawn chair, her mother Anabel served up dinner - a liquid concoction of a Boost shake mixed with medicine. She squeezed it through a tube to Maria's stomach with a plastic syringe. Felix Pagan spoke in calm, even tones; Anabel uttered questions in a singsong melody.
"Yes, my darling, what's the matter with my sunshine?" Anabel asked her daughter. "Are you hungry? What's the matter, are you tired?"
Anabel Pagan rustled Maria's hair. A head pet followed. Vigilance and worry lay a layer beneath the positive.
Through the room and out the back door, the rest of the house bustled. Maria's 7-year-old brother Daniel climbed on the rusted swing set in the back yard. Her 16-year-old sister Iris watched.
Her 15-year-old brother Anthony pecked out his tech school homework on a computer in the TV room. Lilly, her 3 ½ year-old sister, crossed barefoot from room to room. She has cornered the market on cute. She made sure everyone knew it.
But six years after they first saw Maria stumble with the alphabet and footsteps - and then saw the same behavior from Daniel - the Pagan family on Sherman Avenue has become all too familiar in dealing with what is a rare degenerative condition.
"The doctor told us she had Batten disease," Felix said. "He handed us a pamphlet. The first thing I read was what was at the bottom. 'The puzzle that is Batten disease first takes away childhood, then it takes away the child.' "
Arm twitches and academic frustrations turn into body function loss and mumbled, gurgled speech.
Each seizure means a little more lost.
Maria was diagnosed. Daniel's results aren't in, but the prognosis is all but certain. Lilly just turned 3½, the age at which the disease's symptoms start to show.
Crossed between uncertainties and absolutes - with wheelchairs, hospital beds and liquid diets - the Pagans live knowing that Maria, then maybe Daniel, then maybe Lilly, will die.
"We've learned about Batten - Batten is hard to read about when you're going through it," Felix Pagan said. His daughter is "going to lose her motor skills. That was really hard to read. Can you imagine, we walk into the doctor's office and he hands us this pamphlet?"
Batten disease is an inherited genetic disorder. Both parents need to pass on a "bad gene" to the child for the disease to take root.
The initial symptoms sometimes mislead doctors, because at first they parrot those of Parkinson's disease or epilepsy or schizophrenia. Its effects over time lead to mental impairment, seizures, and progressive loss of sight, speech and motor skills, according to the Batten Disease Support and Research Association.
The disease has been fatal among children by their late teens or early 20s. With fewer than 1,000 known cases in the United States and Canada, the obscurity of Batten disease has translated into misdiagnoses, minimal research - and no cure.
For Maria, the symptoms began with troubled footsteps up the schoolhouse stairs. Then she began to have difficulty with basic arithmetic and the alphabet that she had learned a year before.
Children can be clumsy. Forgetfulness happens. But the teachers at Our Lady of Mount Carmel School noticed something more was wrong with Maria. Things just didn't jibe with the behavior of the other 3- and 4-year-olds in the pre-kindergarten class.
"Over time you notice they're not doing what they should be," said Sister Gertrude, principal of Our Lady of Mount Carmel School. "It was a buildup of things, you start putting together things. One was the growing lack of physical coordination. You watch all of this, and you know something is wrong. The nurse thought of everything – there was even a time they were going to test for lead poisoning."
Learning wasn't a problem at first, but by second grade Maria's academic abilities began to falter as well.
She transferred to Nathan Hale School after teachers believed that she might require special education. In 1998 teachers there began to see progress in Maria's schoolwork.
"She was playful, creative, very fun," said school psychologist Sharon Lee. "Her academics were slowly coming. She was learning math. She could do the alphabet."
But within two years' time, Maria's condition worsened. Seizures set off by a camera flash, flickering fluorescent lights or a rough car ride brought down her learning level a little each time.
"When she first started second grade, she had a lot of emergent reading skills," said special education teacher Lisa Freimuth. "She was able to make sounds and symbols. You thought she was ready to read. After her first seizure, we noticed she really regressed. Her skills got less and less. Now in her speech there's a lot of utterances that aren't meaningful at all."
"We really didn't know what was going on," Lee said. "She had already had a battery of tests. At the time, she was testing in the low range of intelligence. When we tested her a year later, there was a dramatic decline."
Handwriting samples from 1999 to now tell the tale. Writing uppercase and lowercase letters with a corresponding word - A is apple - gave way a year later to only uppercase. Her ability to write from left to right went away as well.
Her latest writing sample from October reduced to a scrawled mix of repeated letters. She began one word, her first name, with an "M" and continued it with "AAAAAA" amid scribbles. Now even M's and A's are difficult to distinguish.
"Maria really lost her skills when it comes to academics - it's gone now," said Lee. "The mental decline and physical decline has been very pronounced this year. She cannot meaningfully write a letter now. To see her go through these stages with the mental and physical decline has been difficult for all of us. To me, it's startling, the differences. It's heartbreaking."
The symptoms began to surface in Daniel by age 3½. For him, it showed in his wandering attention and in his trouble following directions beyond the typical difficulties of a pre-kindergarten child. He, too, transferred to Nathan Hale.
"Daniel wasn't ever very strong in his academics," Lee said. "He enjoys being read to. Daniel has a very difficult time focusing in and paying attention. He really wants to play, that's his goal in life. He participates in cooking, art, music, physical education. He really needs to move and not be behind a desk. He's not a desk kind of guy."
Foregoing much of his academics, Daniel doubled up on morning and afternoon kindergarten sessions. He split his school days between mainstream classes for activities and special education sessions to relearn math and reading. Counting objects up to three confuses him. Maintaining a high level of action and interaction has become Daniel's focus.
"He is very physical and just full of energy," his father said. "We want to keep him as physical as possible, as long as possible."
Daniel took part in an interactive mainstream kindergarten class called centers, in which students choose from several possible activities or play centers.
Children sign up by clasping name-marked clothespins on an activity board. In one session, Daniel and three girls played at the water table, an elevated, water-filled tub with buckets, shovels and toys.
The foursome wore white plastic smocks to keep their clothes dry. Daniel, though, fought the waterproof fashion, swatting at his smock until it flipped behind him to make a cape.
Daniel repeated kindergarten at Nathan Hale this past year, but it's only a year more of growing that separates him from his classmates. Daniel roared a dinosaur sound for a rubber shark, flew it through the air like a fighter plane, then shoved a plastic fish in its mouth. The girls followed suit with sounds of their own.
With its varying progression of symptoms, Batten disease is difficult to point out, even among doctors and disease experts.
"It's a varying rate of progression; the parents don't know what to expect next," said Dr. Jacqueline Kirby, the Pagans' pediatrician at the Community Health Center in Meriden. "The needs of the children become so extensive. That's the hardest thing the parents deal with, seeing their children deteriorate and knowing it's going to get worse."
"As the symptoms begin to develop, we begin to put two and two together," said Lance Johnston, executive director of the Ohio-based Batten Disease Support and Research Association. "It's not well known. The disease, it knows no timetable. It treats these children differently."
Having lost a daughter to Batten disease eight years ago, Johnston also learned of an emotional toll his household endured as the disease progressed. Daydreams of the future faded. Familiar family dynamics faltered.
"When people have children, they have dreams and expectations," said Johnston. "They hope their child becomes a worthwhile person. When you receive a diagnosis for Batten disease, that dream is shattered. It affects the whole family. The sick child becomes the center of the family. Sometimes siblings view this as unfair; it interrupts their normal growing up."
At the Pagan house, change became the routine. In May, Felix Pagan finished taking down one wall in a room across from the living room. He widened the doorway as well.
They're making room for the wheelchairs and hospital beds that Maria and Daniel will both need. There's no sterile institution, though. No shameful back bedroom. The children are part of the family - they'll be out in the open, in the busiest rooms.
"Our life is basically to live for our children," said Anabel Pagan. "We want to make sure they live a happy life, a healthy life. We're prepping for the future. We've got a lot of work to do yet."
In the living room, young Maria stood on the hardwood, leaning a little to the left. Her eyelids hung heavy, showing up on her face as a worn daze.
Drool rolled from the corner of her lip into a bandana lined with a wash cloth. Her hands reached out, pawing at the air as she swayed.
"She was talking before, sometimes in complete sentences," her father said. "Every time she has a seizure, she loses a little bit. She knew the whole Lord's Prayer, but then, with the seizure, there was a little more that she didn't know. She doesn't talk in sentences any more. Now she prays in her own way."
Behind Maria, Lilly clomped past with pink plastic Barbie high-heals that were two-inches too big for her feet. The purple-and-green makeup case she swung toted a cargo of seashells and a hairbrush. It rattled as she walked by. After pacing into the TV room, Lilly emerged wearing a pink Disney hat with Mickey Mouse ears to complete the ensemble.
"In a way, our kids don't know what's happening," Anabel Pagan said. "They live a sweet life. Danielito, he doesn't have to do homework. They don't have that stress. I want to make sure my kids have the best life. I want to know what (Maria) likes. She loves sitting in the grass. She loves pulling the grass, so I let her. She loves pulling my flowers, too, but I don't let her do that."
Felix and Anabel split their work schedules with the U.S. Postal Service and swing babysitting duties with family members. Felix works until 4 p.m. Anabel preps the kids for school and wrangles with an energetic Lilly.
Anabel then works from 2 to 6 p.m. Iris or Anabel's mother or sister hold the fort until Felix, and then Anabel, return home at night.
At 8 p.m. this night, Felix and Anabel readied their children for bed. The tooth brushing, asthma treatments and the children's pleas to stay awake longer wrap up an hour later.
Maria goes to bed first. As she sleeps, Felix and Anabel fit a breathing mask over her nose and mouth for the asthma treatment. Then Lilly takes her turn with the machine. She flips through an oversized picture book as she waits for the end of her treatment time. Daniel does the same with a separate machine in his room.
Baby radio monitors in each room let Anabel and Felix Pagan keep tabs on the children all night. Gurgles, moans and breaths all hold signs of comfort and concern.
"Lately we hear a click," Felix Pagan said. "She's breathing normally; the click is coming from somewhere else. Now, it's time to normally do the dishes, clean up the toys they threw around, do the laundry."
The older children, Iris and Anthony, both help with chores and act as extra eyes after they get home from school at Wilcox Regional Technical High School.
Having had a different birthfather, they don't have the disease. But the disease reaches them as they see Maria and Daniel suffer. The two deal with the disease in different ways.
When Anthony saw the Batten disease pamphlet, he crumpled it and left the rest unread. When Maria or Daniel have seizures, he leaves the room. He tries to simplify the issues in his own mind.
"I'm kind of emotional and try to stay away from that," Anthony said. "I cried the entire day when I came home from school. I couldn't believe it. I can't believe that she's going to die. They're normal kids - basically, she likes the TV, and Daniel is hyper. And when they have a seizure, I think of it as if they have a little problem."
Iris has tended to Maria during seizures and tube feedings. She couldn't believe the disease was fatal. Friends at school help her through the rough moments.
"It bugs me, but I believe in 'seize the day,' " said Iris. "Now she's here with me, so I'm going to take advantage of it. This became one of the normal things. It took a lot of getting used to. My mom can talk about it, but we don't want to make each other cry. Mom and Anthony and Dad just let it out and cry. Me, I go into shock first, then I cry."
News of Maria and Daniel's conditions floored other family members. Zulma Andujar has seen her sister Anabel keep herself and her family together.
"Everybody's got their days counted. The only thing with these kids, we have a pretty good idea," Andujar said. "Sometimes she has her breakdowns. Knowing that two of her kids are going to die and the third one, Lilly, they don't know. I give her a lot."
From a bag beneath the living room porch swing, Anabel Pagan pulled out two pictures. Double prints of Lilly? Two poses? No, only one picture was of her. The look-alike was Maria at the same age - proof of what changes the disease has made.
"All of the sudden, when she was Lilly's age, 3½, we would start to see this," said Anabel Pagan, twitching her hands to explain the symptom they first saw. "That's why we're so careful about Lilly, every move."
"Maria was just like that," Felix Pagan adds. "The talking, the sentences - she was just like that. There are times when Maria is very alert and you can see a glimpse of her old self. You know how smart she is and it's in there, but it's blocked."
After Lilly was born, Anabel Pagan had herself sterilized because any additional children would aggravate her back problems. However, living through Batten disease with Maria, Daniel and now the lingering possibility of Lilly, too, Anabel Pagan said she wouldn't risk another birth.
"I don't think I would want to have any more children if I could," she said. "I don't think I would put another child in this position."
With Lilly, one symptom - a hand twitch - showed at age 3½. It was only once, in January, after Anabel Pagan dropped off Maria at school.
While teachers and nurses chitchatted with Mrs. Pagan, Lilly got thirsty and helped herself to some water. But raising the cup to her mouth, her hand shook.
"She could have been excited, it could have been from a common occurrence," Lee said. "I want to be positive. I want to be optimistic. There's just too much history to think, 'Oh, her hand is just shaking.' I just remain very optimistic."
"We saw that shaking, we were all panicked," Anabel Pagan said. "It would be devastating if she had it. I've seen her spaced out, but I do that, too. I don't want to see things that aren't there."
