Archived Story
10-15-2006: news-state

Fargo boys may help kids with genetic disorders
By DAVE KOLPACK
Associated Press Writer

FARGO - Two-year-old Markie Noah and 11-year-old Tyler Fike met just weeks ago, but already the connection between the two boys is helping with research into genetic disorders that affect thousands of children.

Markie and Tyler, who live in the Fargo area, were born with Smith-Lemli-Opitz syndrome, or SLOS, a disease that blocks the body's ability to make or process cholesterol. It can cause serious birth defects, or death in severe cases. It has no cure.

Even identifying the disorder can be tricky - the diagnostic rate is 1 in about 50,000, said Dr. Forbes Porter, a researcher with the National Institutes of Health. Only about 500 people in the United States are living with the disorder, he said.

Through Markie, a brown-haired smiling boy who loves John Deere tractors and McDonald's french fries, researchers are on a mission to learn more about SLOS. And Tyler helped get them started.

Markie, who turns 3 next month, is one of the milder cases, but he was not diagnosed with SLOS until last spring. His mother, Gretchen Noah, checked on the Internet after she met another mother at a support group for children with heart defects.

"She told me that Markie looked a lot like another boy she knew of who had Smith-Lemli-Opitz syndrome," said Gretchen.

The other boy was Tyler Fike.

"That convinced me to get back online and do more research. I don't know if I would have done that if I hadn't heard about (Tyler)," Gretchen said.

SLOS is characterized by distinctive physical features - a small head, upturned nose, droopy eyelids, cleft palate, short thumbs, low-set ears, a single palm crease and webbing between the second and third toes - as well as mental retardation or learning disabilities, and behavioral problems.

Infants with SLOS have weak muscle tone, experience feeding difficulties, and grow more slowly than other children. A majority of the patients have autistic characteristics.

Markie's condition eventually was confirmed by Dr. Richard Kelley at Baltimore's Kennedy Krieger Institute, who was recommended by a woman Gretchen met through the SLOS Foundation Web site.

Porter, who has since taken over the case, said the fact that Markie has a mild form of SLOS makes him an ideal patient.

Porter is studying mutations in Markie's genes and how his cells synthesize cholesterol. Treating the learning and behavior problems associated with SLOS could involve trying to change brain chemistry, he said.

Mark Noah, Markie's father, said Porter told them his son, through the research, will have an impact on thousands of lives, including SLOS patients as well as other children with more common disorders, such as autism. More than 300,000 children have been diagnosed with autism, Centers for Disease Control and Prevention statistics show.

"I don't have a crystal ball," Porter said, "but we're very interested in Markie's case."

Porter prescribed a cherry-flavored cholesterol serum to help Markie gain weight and improve his behavior. In the four months since Markie started taking the medicine, it has made a big difference, helping him calm down, Gretchen said.

SLOS was described by geneticists in 1964, but it was not until 30 years later that scientists discovered that children with SLOS were unable to process cholesterol, Porter said.

By Markie's first birthday, he was not crawling and was sensitive to sounds. He covered his ears during his sister's hockey games. He also had significant learning and speech delays. He learned to speak through sign language.

The Noahs enrolled Markie in physical, occupational and speech therapy when he was about 14 months old. Besides delayed motor and verbal skills, he avoided eye contact and showing emotion, his occupational therapist said.

"Everything was a struggle for him at first," said Stephen Olson, of Pediatric Therapy Partners. "Now he has blossomed into this little boy who is active and runs and plays and laughs and jokes and all those kinds of things."

Doctors believe there are no SLOS patients who live independently. Olson wouldn't be surprised if Markie is the first.

"When it comes to Markie, I'm not holding anything back right now," Olson said.

Markie no longer is enrolled in physical therapy. He has occupational and speech therapy sessions twice a week, Olson said. Markie plans to attend preschool in the next year.

Tyler's case also is considered mild, said his mother, Danielle Mayer. He was diagnosed when he was 2, after what Mayer called a "long process with many, many doctors testing for all sorts of disabilities."

Tyler doesn't take any medication but gets most of his nutrition through a feeding tube. Although he's small for his age, he hasn't had other health problems, Mayer said. Like Markie, he started with sign language but is now learning to read and write. He loves auto racing, rarely missing a night at the local speedway or a chance to cheer on NASCAR's Jeff Gordon on TV.

"Every year, Tyler's doing more and more, things we never thought he would do," Mayer said. "Hopefully, in a few years, he'll just keep improving and keep going."

And now, after Tyler led Markie's mother to research and treatment, Markie may be able to help Tyler. Mayer said she is interested in finding out whether the serum prescribed by Porter, or other supplements, can help her son.

The two youngsters finally met in September after Tyler's grandfather heard about a benefit walk the Noahs put together for the SLOS Foundation, which originally was started to help families with funeral expenses. The walk has taken in more than $32,000 for a foundation that rarely raises more than $30,000 in a year.

Mayer said she was shocked to find out about Markie.

"At the same time, I was very excited to meet this family," Mayer said. "It's very exciting because all of the things we've been through, I can share."

Mark Noah's first words to Tyler were "thank you."

"You were a very important part of our son getting diagnosed," Mark told him. "If it wasn't for you, it might have taken quite a bit longer."

(On the Web: www.smithlemliopitz.org; Mark Noah Walk: www.firstgiving.com/ marknoahwalk; Kennedy Krieger Institute: www.kennedykrieger.org.)