Checking Mia's spots

Six-year-old Mia Schwettman of Scott City is one of 100,000 Americans with neurofibromatosis, a genetic disorder. Parents of children who are diagnosed with cancer at least have some idea what they can expect from the disease and the treatment. Not so with parents of children with NF.

"One of the most challenging things about it is no one can tell the family what the diagnosis will mean for them," said Lydia Johnson, nurse coordinator for the NF clinic at Cardinal Glennon Children's Hospital in St. Louis -- and acquainted with the Schwettman family.

For little Mia, the diagnosis came when she was 9 months old. Her mother, Michelle Schwettman, noticed what she thought was a birthmark on the baby's hand. As Mia grew, more spots appeared on her trunk and limbs. Dr. Connie Simmons, her pediatrician and office manager Michelle's employer, suspected NF and sent the family to Cardinal Glennon where the diagnosis was confirmed.

The more Michelle and her husband, Jeff, researched NF, the more confused they became. NF, they discovered, is more prevalent than cystic fibrosis and other serious disorders. But why had they never heard of it?

"Lots of times people don't know they have it," Michelle Schwettman said. "There are only three places in Missouri that have teams that deal with it."

Half of the people with a family history of NF will develop it, but it can also happen spontaneously, which is what happened with Mia. Michelle said the chances of her having another child with NF are "slim to none." She and Jeff also have an 11-year-old son, Tyler, who does not have NF.

It can occur in any race or sex and at any age. It can worsen after puberty. Symptoms can be mild or disfiguring and painful. There is no cure and very little treatment.

Mia attends kindergarten and enjoys playing softball like any other active little girl. Schwettman said her daughter has multiple cafe au lait spots, some freckling, and her tumors are deep, not attached to any nerves and not visible. She also has lisch nodules on her eyes -- discolorations on her iris so tiny that only an ophthalmologist can see them. So far she has not shown any sign of learning disabilities, behavior problems, scoliosis or any other deformity associated with NF. Once a year she goes to Cardinal Glennon for a checkup. Her mother said she calls it "checking my spots."

For now, Mia doesn't know she has more than spots. Schwettman said she's too young now to understand that she has a disease that adults don't understand. Her parents will tell her more as she grows older and begins to ask questions.

After Mia learns more about her disease, she will have a decision to make when she is an adult: Will she want to have children? She has a 50 percent chance of passing NF on to her children, and no one can predict how severe the disease would be in her children -- or if her own NF will worsen after a pregnancy.

Despite the uncertainty of NF, Johnson at Cardinal Glennon said research has brought about some discoveries. Researchers now know where the gene is in the genetic makeup. There has been some success in treatment of optic nerve tumors in NF patients with therapies that people with tumors but not NF don't respond to. Within the last five years, she said, there have been advances distinguishing between the two types of NF and in the treatment of symptoms for people with tumors on their acoustic nerves. Radiation and laser surgery treatments have proven helpful in some instances.

"But we haven't found anything that helps us make this not happen at all or cure it," Johnson said.

lredeffer@semissourian.com

335-6611, extension 160