THE NINTH CHROMOSOME

      Chelsea Udell was born with huge blue eyes, fat cheeks and a ready smile.
      She also came with six fingers on each hand, a bony ridge on her forehead and an assortment of medical ills that required $250,000 in surgery and treatment before she celebrated her fourth birthday.
      A chromosome test performed by her doctors the first week of Chelsea's life showed she had Alfi's syndrome, the common name for monosomy 9p-minus.
      The genetic disorder caused by the absence of part of the ninth chromosome pair is so rare that Jim and Beverly Udell were given little information and almost no hope for Chelsea's future when she was born in 1987. Institutionalizing their newborn daughter was an option the couple couldn't accept. Their search for something to sustain them eventually led to a support group of fewer than 20 families with children like Chelsea.
     

When Chelsea was born, doctors were doubtful she would walk or talk because of her genetic disorder. Today, she and her younger sister, Jamie, are playmates. Photos by John Gurzinski. Beverly Udell watches Chelsea while she plays with the family's rabbits. Chelsea's main passions are her animals and computer spelling games. Ten-year-old Chelsea Udell leaves school with her citizenship award in hand.

"It's every parent's worst nightmare to have a child who's not healthy," said Beverly Udell, now the group's vice president. "We were told that Chelsea wouldn't learn to walk, talk or even recognize her parents. Thank God they were wrong."
      Chelsea is 10 years old, and the Udells have become a source for the information they had so desperately wanted as frightened parents of an Alfi's syndrome newborn. Like other parents in the group, the Udells write yearly updates, letters that are collected and shared when new families join the circle.
      Udell distributes the histories of the 9p-minus children, which blend family life with detailed medical experiences and different approaches to therapy. Her packets go to 9p-minus parents around the world, a growing roster that includes families in Jerusalem, Ireland, Australia and the United States. Membership has more than tripled since the Udells first joined. The group isn't widely known, but parents are able to find out about it through the Internet or by word of mouth.
      "I just talked to one mother on the phone whose daughter is 3 months old," Udell said. "She cried because I was the first person in three months to say congratulations. Most people don't know what to say. I always tell parents not to look at this as a curse. They've been given a child to love."
     
     Learning what to expect
     
      "We were told that what Chelsea has was extremely rare (only 20-40 cases in the world), and not to even bother looking for information because there wouldn't be any. So we just took our daughter home with not a whole lot of encouragement. ... At one point it was even suggested to us that because of her severe mental capabilities, if she were to go into cardiac arrest, we might just opt to let her die."
      --Excerpt from a Udell letter to support group parents
     
      Chelsea stopped moving in her mother's womb when Udell was five months' pregnant. The Udells thought their second child had been affected by her mother's bout of chicken pox, but they later discovered that poor muscle tone is common among Alfi's syndrome babies -- Chelsea was moving, but so slightly Udell didn't feel it.
      Genetic testing showed neither of the Udells carried the disease. Doctors could give no explanation for their daughter's affliction.
      "When Chelsea was born, I had no idea what a chromosome was," said Udell, who gave birth at the former Womens Hospital. "The doctors had to explain it to me. They just told us this was something that happened spontaneously on conception."
      Although the disease can be inherited, she said the majority of cases appear to happen randomly. The Udells' oldest child, Lindsey, who's 17, has no health problems. Neither does Chelsea's younger sister, 9-year-old Jamie.
      That's why the arrival of a child with Alfi's syndrome is such a shock, Beverly Udell said. Most parents never see it coming.
      "We can really feel other people's pain," she said. "The predictions are all so dire. That's one of the reasons I have Chelsea and Jamie leave the message on the answering machine. It gives the parents who call hope that yes, their child can learn to talk."
      But the Udells don't soft-peddle the kind of obstacles a 9p-minus child will face. Chelsea has features common to those with the disorder -- low-set ears, elongated fingers, developmental impairments, and intellectual delays. Her life began with respiratory problems that put her in a newborn intensive care unit before her mother even had a chance to hold her.
      Chelsea also had two holes in her heart. Surgeons had to remove her extra fingers, which had become infected. The bones of her forehead had prematurely fused together, a condition that would have caused severe brain damage if not corrected before Chelsea developed. Because of poor muscle tone, Chelsea was too weak to lift her own arms.
      She also was born with the beginnings of a cleft lip and palate, a condition that would later impede speech development and cause problems with eating. Food that was swallowed often would go up her nose instead of down her throat.
      With that list of conditions needing correction, it didn't take long for medical bills to escalate. The middle-class couple found themselves facing a quarter of a million dollars in expenses before Chelsea turned 4.
      "After that, we just stopped counting," said Jim Udell, an Air Force retiree who works as a slot mechanic at the Fremont. "It got depressing."
      But the medical details aren't the ones that evoke the strongest reactions from other 9p-minus parents. News that Chelsea was successfully potty trained sparked a lot of excitement.
      The girl doctors predicted would never recognize her parents turned out to be so curious that the family fish tank had to be gated off when she started walking at 23 months. And it was discovered that part of Chelsea's speech problem was caused by an attached tongue that limited movement.
      "Just the fact that this kind of information is out there now is a comfort to parents," her mother said. "Before, no one knew what to expect."
     
     Sharing experiences
     
      "It's funny that when (Chelsea) was born, they told us that she would be profoundly delayed. By age 1, she had passed through that into the severe to moderate stage (of retardation). By age 3, she was classified as moderate to mild, and by 4, she was just mild.
      "Now at age 5, she was kicked out of all those ranges with IQs in the low average and average categories. Most of the tests showed Chelsea in the mid- to high 70s, but she did have some scores in the 80 IQ range and even one area that was in the 90s."
      --Excerpt from a Udell letter to support group parents
     
      The Udells know of no other child in Nevada who has Alfi's syndrome. Other parents in various states report the same kind of isolation. Last month, parents of the support group were able to organize a first-ever meeting in California, an event that attracted Cleveland pediatric specialist Dr. Carol Crowe.
      The intent was to bolster parent morale and share experiences. For Crowe, it was her first opportunity in years of studying the disorder to see a large group of 9p-minus individuals together.
      "I'm trying to put together a profile of common problems," said Crowe, from her office at Metrohealth Medical Center in Cleveland. "We don't have any cures, but knowing ahead of time what to expect helps everybody."
      Previous studies done on 9p-minus involved people who had been institutionalized, which was part of the reasons the results were so bleak, the Udells said. The group Crowe is following is made up of 40 to 50 individuals, but contact has mainly been over the phone or in letters.
      The group that came together in California drew a broad spectrum of Alfi's syndrome individuals, ranging in age from 5 months to 37 years.
      "I wanted to see these children in person and do physical exams," Crowe said. "This would be a hard experience to duplicate. It was a privilege to meet all the families."
      Crowe was the physician who diagnosed 9p-minus in the daughter of Jon Storr, the Ohio man who founded the support group in 1984.
      Storr is still the group's president, and Beverly Udell works with him closely. The meeting, which was more of a backyard barbecue, was thrown by Darlene Nydam of Highland, Calif. Her daughter Sandra was 16 years old before she was diagnosed with Alfi's syndrome. Side by side, Sandra and Chelsea look like sisters. Sandra calls Chelsea her best friend.
      "Support groups mean so much to people with rare disorders," Crowe said. "And this is a disease we still don't understand."
      Ten percent to 15 percent of children have it based on inheritance, and other instances can't be predicted, Crowe said. The disease is similar to Down syndrome in terms of how it affects those born with it. Some cases are mild, others severe.
      Udell said there are a few children in the support group who can't walk or talk. Even fewer die early because of the severity of their cardiac problems. Those who live require lots of medical attention, in addition to a variety of therapies. Because Alfi's syndrome affected Chelsea's immune system, she will require monthly treatments of gamma globulin to strengthen it for the rest of her life. Each four-hour treatment costs about $5,000.
      Chelsea once went a year with an undiagnosed sinus infection. The condition required two surgeries to create new sinus openings and scrape out the infection. Her condition had initially been treated with a nasal spray and antibiotics, but the infection drained into her lungs, initiating a monthlong bout with pneumonia and bronchitis.
      Another surgery to repair her cleft palate and improve her speech had to be reversed in 1995 because it was causing sleep apnea. In their annual missive to other parents, the Udells jokingly labeled 1996 the year of "Un-Chelsea" because nothing dramatic, traumatic or life-threatening happened.
      "It's a really hard thing to do, to sit down and write these letters about your child," her mother said. "But when things go right, you're grateful."
      A turning point in the way her parents perceived Chelsea came in 1994, when a school psychologist told the Udells he thought their daughter was learning more than was apparent.
      The psychologist took the time to create special tests designed around Chelsea's short attention span and her tendency to be nonverbal. They showed surprising results. Contrary to the beliefs of her teacher and her mother, Chelsea did know the alphabet and could point out specific letters. During previous testing, she'd been asked to name them verbally, and didn't, perhaps because of her speech problems.
      The psychologist also tested her in short spurts instead of long intervals. He found her IQ to be in the low average range of 70 to 80, instead of the mentally retarded range of 30, a score Chelsea had earned in previous testing.
      "I hate those words -- mentally retarded," said Udell, who has shared the testing methods with the support group. "Can anyone really say what a 30 IQ is?"
     
     Giving others hope
     
      "Everyone of you parents already know what Chelsea is like to have around. You all see her every morning when you look into the face of your own child who has 9p-minus. My theory is that when the Lord saw that part of the ninth chromosome was missing, he replaced that missing part with a ray of sunshine that's now housed in every cell that makes up Chelsea."
      --Excerpt from a Udell letter to support group parents
     
      "Did you see my award?" Chelsea asked after Rundle Elementary School's ceremony honoring its November good citizens.
      The other students had taken their certificates and returned to their seats. But after Chelsea was given her award and her handshake, she made a beeline for her mother's seat in the audience.
      "This from the child who wasn't supposed to know me," said Udell after giving her daughter a hug.
      Chelsea is mainstreamed in a fourth-grade class. Udell said this year has been a struggle for the girl -- for some reason, she's lost weight and forgotten some of the things she used to know. The family also found out recently that Chelsea's breast bone, which is concave, is pushing her heart into her spine as she grows. It's not the cause of her current health problems, but the Udells worry about it anyway.
      "The parents who call ask me how awful it's going to be," Udell said. "They want me to tell them what will happen. That's why the letters are so important."
      Udell can't predict the future for those worried parents, but she can and does send them every letter written by every family in the group. It's a broader source of information on monosomy 9p-minus than any doctor could give them, Udell said. The cost of mailing the packets grows as more information is added -- it recently cost Udell $60 to send the information to Australia. And the budget for sending out the yearly updates to the support group's regular family members is nearing $1,200.
      "Every year, I sweat about how we're going to pay for it," she said. "But every year, we get it done. We just have to have faith in God that he'll provide."
      Even though the Udells are looking to sell their house to move into a smaller one, skipping the mailings isn't an option. One year, Udell financed the mailings with a small inheritance from a family member. Another year, money came from an Irish family whose child died of 9p-minus complications. Another family asked that money be sent to the support group in lieu of flowers. The group is now incorporated in Nevada as a not-for-profit organization, and Udell hopes to begin actively seeking donations soon.
      "Someone who knew someone printed stationary for us at a discount,"
     Udell said. "Someone else donated a copy machine. We're hoping to get a computer soon. I'd like to have someone start a Web site for the group."
      In the meantime, the group is planning another meeting, this time on the East Coast. The first one was such a success, Udell said, all the parents are clamoring to do it again.
      "I can't tell you what it means to see another child," said Udell, explaining that because the disease is rare, 9p-minus families usually never meet. "It gives hope. I believe that's why Chelsea's here -- to give hope."