Mother's lonely search for light in darkness

Chicago Tribune (MCT) - In her former job as a school bus attendant, LaSonya Thomas helped care for other people's disabled children. Now her life is consumed by the around-the-clock needs of her own severely ill daughter. Thomas became a full-time caregiver last year for 15-year-old Maureeka Wilson, who was diagnosed in 2008 with a rare disorder. Maureeka can no longer talk, walk, swallow or go to the bathroom on her own.

Thomas escorts the 71-pound teenager to countless medical appointments. At home, she handles her daughter's tube feedings, administers medications every three hours and even tucks Maureeka into bed with her most nights, fearful the frail teen will choke to death without quick intervention.

All this leaves Thomas, a single mother living in a public housing development on Chicago's North Side, often feeling utterly alone in a search for treatment, despite being in a sprawling metropolis full of medical providers and top specialists.

That's because of the rareness of the disease with which Maureeka has been tentatively diagnosed _ sepiapterin reductase deficiency, a pediatric neurotransmitter problem. Fewer than two dozen cases have been identified worldwide, and most diagnoses have been made around the Mediterranean region, said Dr. Jennifer Friedman, a neurologist at Rady Children's Hospital in San Diego who is considered an expert on pediatric neurotransmitter diseases.

The deficiency is one of an estimated 6,000 rare diseases that afflict about 25 million to 30 million Americans. Each is considered an orphan disease because so few people have it and little or no research is being done to develop treatments. A disease is considered rare if it affects fewer than 200,000 people in the United States.

"I pray a lot," said Thomas, who talks regularly to a silent, largely unresponsive Maureeka. "I ask God to direct me, give me strength, help me to take it one day at a time."

Seeking answers to the puzzle of her daughter's disorder, Thomas has been searching for other families dealing with the deficiency. So far, she has located only one, in New Mexico. She has called organizations around the country looking for help.

It appears Maureeka has no idea of her mother's devotion. She stares blankly at the world with wide, dark eyes. Her disease has robbed her of an awareness of what goes on around her. On a recent day, she sat stiffly in a wheelchair across from a TV screen filled with static.

"It's hard, it's real hard," said Thomas, sitting on a sofa in her sparsely furnished living room, her eyes fixed on her only daughter. "But I love my daughter, and it's not her fault."

Maureeka never walked or talked normally as a youngster, but she attended school and lived a relatively normal life.

She was misdiagnosed with cerebral palsy when she was 1.

When she was 13, she started having seizures and her condition suddenly worsened, prompting her doctors to rethink their diagnosis.

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A special test was performed on her spinal fluid to measure levels of neurotransmitters. Doctors determined that she had been born with a genetic defect that affected her body's ability to make neurotransmitters such as dopamine and serotonin.

Neurotransmitters are chemicals that relay signals between neurons in the brain.

"We don't have the ability to reverse the genetic problem or to do gene therapy," said Dr. Sarah Elizabeth Zauber, Maureeka's physician and a neurologist at Rush University Medical Center who specializes in movement disorders. "Perhaps down the road as we learn about these diseases, that might be possible."

For now, those diagnosed with the disorder are treated with medication to try to restore their levels of neurotransmitters.

But for Maureeka, the medication appears to have triggered periodic body movements that resemble seizures.

"Sometimes children with these diseases, once you give them medication to restore those types of neurotransmitters, they get remarkably better," Zauber said. "But her condition deteriorated to the point that she could barely sit in a wheelchair." Zauber is working to identify other medications and considering dosage changes of current medications to limit the abnormal movements, which include stiffening and shaking of the body.

Maureeka's doctors have been impressed with her mother's dedication.

"Her ability to understand complicated treatments is remarkable," Zauber said. "She's very organized and she has a sophisticated ability to say, 'We did this and this is what we noticed and this is what is going on.'" Thomas tracked down Friedman for information about her daughter's disease at a medical conference in Chicago last spring. Friedman diagnosed the first case of sepiapterin reductase deficiency in the United States _ and just the third case in the world _ in 1999.

Thomas is "an unbelievable support for Maureeka," Friedman said. "She has gone above and beyond to get the best care for her daughter. I am impressed (with) what she has done with limited resources."

Unlike many parents who have sick children with more common and better understood disorders, Thomas has no idea what the future might hold. That adds to the stress.

"Nobody can give her the answer if (her daughter) is going to get better, get worse or stay like this," Zauber said. "Hopefully, with more testing we will know more. But because these are very rare diseases, we don't have enough knowledge to always be able to predict."

For now, Thomas would like to help set up a support group and find ways to spur research.

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"I do understand and accept that there is no cure for Maureeka's disease," Thomas said in her calm, quiet voice. "But I would like to find something that will make her life better."

For more information, contact the National Organization for Rare Disorders, rarediseases.org, or the Pediatric Neurotransmitter Disease Association, pndassoc.org.

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© 2009, Chicago Tribune.