Child with rare genetic disorder a bright spot for family, strangers

Four-year-old Maria Kramer peers through her glasses to examine a white angel ornament at the Tannenbaum Forest in Amana.

The choice is fitting.

“I've had strangers come up and make comments about how special she is,” said Maria's mother, Genna Kramer of North Liberty. “One man said, ‘Your child is an angel from God.' I'd never seen the man before.”

Maria's vitality shows in spontaneous dancing, friendly smiles for babies and exuberant “Hi, puppy” greetings to dogs.

Maria shares her joy of life with her doctors, too.

“I think she's a blessing to have around,” said Dr. Oleg Shchelochkov, assistant professor in the genetics division at University of Iowa Hospitals and Clinics.

Maria has spent much of her short life at the UI Children's Hospital because of a rare condition. She is the only person in the world known to be missing a particular number of genes on her 17th chromosome.

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. According to the National Institutes of Health, chromosome 17 likely contains between 1,200 and 1,500 genes that perform a variety of roles in the body.

Shchelochkov said some of those roles are still under study.

“Sometimes I feel I learn a lot more from patients like Maria than I can learn from textbooks,” he said. “It's not even in the medical textbooks. In a sense, she is a textbook for us.”

Changes in the structure or number of copies of a chromosome can cause problems with health and development.

For Maria, the partial deletion resulted in breathing difficulties, because the genetic information wasn't there to wire her brain for breathing and to form the trachea and lungs, Shchelochkov said.

Her parents witnessed what doctors call “dying spells,” in which she couldn't breathe - including a 3 a.m. episode in which Maria's father, Michael Kramer, 33, had to perform cardiopulmonary resuscitation.

“We thought we were going to have a normal, healthy baby,” said Genna Kramer, 30.

But Maria wasn't healthy. She needed oxygen immediately after her birth in March 2006 and spent weeks in the neonatal intensive care unit.

Shchelochkov said the latest chromosomal test wasn't available when Maria was born but was performed last year to help determine the source of her breathing issues. The mechanism of the problem is known, but the cause is not.

Maria was given a tracheotomy to prevent the breathing episodes. The tube has been removed, but Maria still uses a feeding tube and is unable to eat.

Her early development - walking and talking - were delayed. She's had hearing problems since birth. Now a preschooler at Shimek Elementary in Iowa City, Maria's language acquisition is accelerating.

She took a celebrity turn at the Tannenbaum Forest last weekend, where visitors recognized her from a photo posted in the Festhalle Barn. Her dark auburn hair and hearing aids covered by a pink hat, Maria delighted in greeting children and pets who passed through the tree display.

This year's event benefits Maria and her family through Make-A-Wish.

Proceeds from the Tannenbaum Forest go to an individual child's wish each year, said Jon Childers, who manages the Amana Colonies RV Park & Event Center and organizes the event.

Carol TeBockhorst, field director for Make-A-Wish, said each wish averages $9,000 to grant. Iowa last year granted a record number of 208 wishes.

Wishes aren't just for terminally ill children. Studies have shown the wishes can improve patient outcomes.

“It's kind of medicine for their mind,” TeBockhorst said. “It's something to look forward to.”

About half the children choose a Disney destination, but Maria is going to a Beaches resort with her family next fall to see her favorite character, Sesame Street's Elmo. It will be the family's first vacation.

“She loves Elmo,” said Erica Lester, 19, a UI sophomore from Muscatine and Maria's volunteer “wish-granter.”

Lester's sorority, Chi Omega, decorated a special Elmo tree for Maria that was displayed at Tannenbaum Forest and given to the family, making it an especially exciting day for Maria, she said.

Genna Kramer is expecting the couple's second child in April. They had genetic testing but knew the likelihood of the baby having the same condition was “one in a million,” said the stay-at-home mom. Michael Kramer is owner of Metal Monsters, a North Liberty roofing company.

Maria will be an excellent big sister, she said.

Their daughter has already taught the couple many things, Genna Kramer said: the power of strength, pain tolerance, perseverance and the ability to smile through everything.

“She just has a special way about her that she touches peoples' lives,” her mother said. “She always is happy.”