Fairbanks girl, 5, among few with genetic disorder

Fairbanks Daily News-MinerOctober 28, 2012 

FAIRBANKS -- A 5-year-old girl zooms around the fish tanks, pausing every time a bright pink fin catches her eye. Her father swoops close behind, grasping for her hood. "M.J., M.J., slow down," he says. She makes a dash for a group of yellow, blue and green birds singing in their cages, her strong legs carrying her until she can press her face close to their fluttering wings.

"When we're in Fairbanks, she sees the block buildings, she knows this is Petco," said her father, David Luntz, of Delta Junction. "It doesn't matter if we park at Home Depot or Lowe's, she's gonna run here. She knows the way, she's done it before, just so she can see her birds."

Maryjane "M.J." Luntz is one of only four known Alaskans living with Rett syndrome, a developmental disorder that occurs almost exclusively in girls. The child's development starts as expected, progressing from crawling to walking and talking, but somewhere between 6 and 18 months, something goes amiss.

M.J. was 2 years old when her parents, now state representatives for the International Rett Syndrome Foundation, rushed to Fairbanks Memorial Hospital during her first seizure. "We knew she was delayed, but we didn't know what we were in for," said her mother, Melissa Luntz. It took six months to get the laboratory test results that confirmed the little girl had Rett syndrome. She has not had any more seizures since starting a prescribed medication.

Rett syndrome, which is found in one out of every 10,000 to 20,000 female births, is caused by an X chromosome mutation. Males with the condition normally do not survive infancy. Rett syndrome affects various brain functions, stunting verbal, behavioral, emotional and physical functions. Some symptoms include seizures, breathing abnormalities, learning difficulties and loss of purposeful hand motions. Some girls lose the ability to walk.

Nearly four years after her first seizure, Maryjane has a vocabulary of 10 words. Sign language has been a challenge because of limited hand coordination. "Her communication is screaming and yelling, bringing us to places, and us trying to figure out what she's wanting," her mother said. "It's kind of hard sometimes. I get frustrated, and I know she's got to be frustrated because she can't tell me."

Even outside Petco, M.J. has surrounded herself with animals. The family has three miniature horses, two horses, four chickens, a dog, a cat and fish and is hoping to get a pig in the spring. The kindergartner's school, Delta Elementary School, has ferrets and snakes, and she rides at an equine therapy center once per week.

"It's phenomenal how much the kids enjoy it. It's like they come out of themselves. I think she loves it," her mother said.

For the past three years, David and Melissa have worked with the International Rett Syndrome Foundation, which functions to fund treatment research and provide support for families. Although there are few people in Alaska surviving with the condition, Gov. Sean Parnell joined the national campaign by signing a proclamation to make October Rett Syndrome Awareness Month.

"I think there are a lot of people who have it and don't know," Melissa said, "and they need to get blood tests to find out."

According to the foundation, some people might be misdiagnosed as being autistic or having similar syndromes. Melissa said some people might be embarrassed to think their child might have a developmental condition and resort to denial instead of seeking help.

"I think that a lot of people just give up on their kids," she said.

Daily life is sometimes a struggle for the Luntz family. Even with M.J. in a strict routine that her father describes as something out of the movie "Groundhog Day," in which the days and months just keep repeating themselves, she often encounters triggers that bring on a tantrum.

"All these kids that are walking around that are screaming in stores, and you don't really know what's going on and you're just looking at the parents like, 'control your kids,' there's something possible else going wrong," her mother said.

Every Monday, M.J. and her parents make the long commute to Fairbanks for speech, physical and occupational therapy at Building Blocks, a rehabilitation center that specializes in pediatrics. M.J. is greeted by rooms painted with bright colors and pictures of elephants, butterflies, flowers and clouds. She waits by the stacks of books with a toy snowy owl in one hand, dancing around with the other children, and making repetitive trips to the light switch.

Therapists work with M.J. on her communication skills, particularly sign language and binary choices such as "yes" and "no." They play with toys, stacking blocks "on," placing plastic discs "in," and expanding her vocabulary by emphasizing simple words such as "again" and "next." One therapist places her hand on M.J.'s lower back to encourage good posture as she plays.

In school, M.J. has a teaching aide and spends most of her time outside the classroom so as to not disrupt the other children. "For the most part, she's a pretty happy girl," Melissa said. "I don't think she notices she's different. When she's among her peers, she plays with them and they play with her."

The family has met two other Alaskans affected with Rett syndrome. One died last year from complications with pneumonia.

"A lot of them pass away in their sleep," Melissa said. "They just don't wake up, and I fear that's what's going to happen to her. So I sleep with her every night because maybe I can stop that."

While Rett syndrome is a life-threatening condition, most women survive into their mid-40s.

"I don't want to put an age on her; I want her to live as long as possible," David said. "I want her to outlive me."

 

 

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