Staying strong for Nicholas

A mother works to understand her son's disorder, on which research is scarce. By DENISE DICK VINDICATOR STAFF WRITER BOARDMAN -- Sandra Cutlip, 28, learned when her son, Nicholas, was 2 months old that he suffered from chromosome 14 deletion, a rare genetic disorder. At first, those were just words to a frightened mother waiting to take her sick infant home from the hospital. The doctor's next words were the ones burned into her memory. "They told me that he would never walk, never crawl, never communicate," she said. "I don't really know if they said anything after that." The doctors from that South Carolina hospital near where the family lived sent them home, saying there was nothing they could do for Nicholas. Since then, it's been a series of visits to geneticists and other specialists, and each time Cutlip hears a different version of the same verse: There's nothing we can do for him. There's no research. Her marriage ended, and Cutlip and her son returned to the Mahoning Valley where she grew up and her family remains. Nicholas' father chooses not to be a part of his son's life, she said. Lonesome frustration Her son's condition is so rare that research on it is scarce. It's not even listed on the National Organization of Rare Disorders Web site. "It gets frustrating when I go to a doctor and they say, 'I don't know how you do it,' when I'm there because I need help from them," Cutlip said. "There's just not enough information out there. Nobody knows what they're dealing with." She even had one geneticist tell her not to bring her son back. "He said there was nothing he could do for him and that there was no need to schedule any more appointments," Cutlip said. Despite the early prognosis, Nicholas learned to crawl, to walk and even to run. He can speak, although sometimes it's difficult for most people to understand what he's saying. All of that was achieved by taking him to therapy -- speech and occupational -- five days per week. Cutlip would take him to the sessions on her lunch hour. "Two days a week wasn't working, so we went to five," she said. But problems remain, and there isn't anyone for her to talk to about it. "A friend of mine was diagnosed with cancer, and there was a support group for her to go to," Cutlip said. "I don't have that." His symptoms At 7, Nicholas still suffers from seizures, sometimes lasting for hours, that have stopped his breathing, requiring him to be placed on a respirator. He loves to play outside, but because heat exacerbates the seizures, he must stay indoors through most of the summer. Although surgeries can correct some seizure disorders, doctors can't pinpoint where his originate, making surgery moot. After trying several medications, his doctors found one that reduced the frequency and severity of the seizures. But eventually, he'll develop a tolerance to that, too. Cutlip's research indicates that seizures intensify during puberty. Dr. Doug Lewis of Youngstown was Nicholas' pediatrician until about a year ago. The boy's condition was new to him, too. While his condition exhibits characteristics similar to some other disorders, it isn't really comparable to any one other ailment that Dr. Lewis has encountered. Some of his symptoms mirror autism. Nicholas gets agitated in small spaces or crowded rooms. He may act out without warning, hitting his mother, teachers or fellow pupils at Robinwood Lane Elementary School. Nicholas doesn't even realize he's doing it, his mother said. It's something he can't control, rendering discipline pointless. Then there are the developmental delays. While his mother and close family members understand when Nick speaks, his language skills aren't consistent with most children his age. Communication barriers Dr. Lewis believes Nicholas knows what's going on, he just can't communicate it. "We don't know how to get in, and he doesn't know how to get it out," the doctor said. Through her research, Cutlip has found three people in the United States, three in Canada, two in Australia and some in England with children afflicted with chromosome 14 deletion. She and the other parents e-mail back and forth and speak on the phone, but most of their children are younger than Nicholas, and they haven't progressed as well as he has. "Most of the time, I feel like I'm helping them -- and it feels good to help someone else -- more than I'm receiving help," she said. Dr. Lewis compliments how well Cutlip copes and helps her son. "Can you saint a woman?" he asked. But her relationship with others in the medical field hasn't always been as congenial. Other doctors have told her that she needs to stop trying to fix her son and to just accept it. When she inquires about the possibility of enrolling Nicholas in a study, she also gets shut down. "One doctor said you need 100 kids for a case study to do research," she said. "At that time, I couldn't even find a dozen. I can't just give up. You'd think they'd want to try it so that they'd have it documented for future cases. Instead, they do nothing." Emotional roller coaster Friends and co-workers sometimes ask her if it's worth it. "I tell them that he's the happiest child in the world. What do you expect?" she said. She wonders if they had a child who lived a normal life and then at age 10 was diagnosed with leukemia, would they feel the same way. Wouldn't they think it was worth it to do everything they could for their child as well? "You deal with it and try to make their life as good as it can be," Cutlip said. There are good times, too, and she regards her son as a gift. Nicholas loves music. He mimics a conductor leading an orchestra when he hears a particular song. He likes to color and draw, using a red marker on each page of a favorite coloring book. He likes attention and hams it up to get his picture taken. Sometimes he just cuddles with his mother. "He didn't cry until he was 7 months old," she said. "And he slept through the night on his first night home." His developmental delays allowed her to hold him in her arms longer than most mothers can hold their infants. But raising a sick child as a single parent also poses emotional challenges. "I hold it together pretty well at the hospital because I have to," Cutlip said. "But after I get home and I get him to sleep, I start to cry," she said. "I cry so much that I think at some point I'll be cried out and it's going to stop." So far it hasn't.