In many ways, Brenda and Steve Helle's eldest daughter seems like a little girl.
Stephanie's eyes light up if someone dangles a set of keys over her wheelchair. And she laughs infectiously as she plays tug-of-war with her sister with a plastic tube that's supposed to be supplying her oxygen.
It is not an easy life, with all her disabilities: she is legally blind and deaf, unable to walk or talk. But to her parents, the fact that she's alive and happy is something of a miracle.
Doctors told them that Stephanie wouldn't live to see her first birthday. Next week, she's turning 30. And her parents are holding an open house Sunday to celebrate.
"Her birthday means we've gotten 29 more years with her than we expected," said Brenda Helle, 55, of Cedar, in Anoka County. "Every year since then has just been a gift."
In the fall of 1978, Brenda and her husband were pictured on the front page of the old Minneapolis Star "with their dying daughter, Stephanie," as the caption read. At the time, Stephanie, their first child, was 7 1/2 months old. The story described her struggle with a mysterious ailment that left her severely brain damaged and barely clinging to life.
Doctors thought that a viral infection in the womb was to blame. But it would take two decades, and even more heartache, before the Helles (pronounced Hel-lees) learned that Stephanie has a rare genetic enzyme deficiency, known as CDG syndrome (CDG stands for congenital disorders of glycosylation).
"It is amazing that she did live through childhood, because the majority of children [with that condition] don't," her mother said. "I believe had she not had such a strong will to live and thrive, that she would not be here."
Ill since birth
Stephanie, who was born March 31, 1978, was ill from the start, her mother remembers. As a newborn, she had projectile vomiting and didn't gain weight. Her parents, who had been married less than a year, knew something was wrong, but the pediatrician didn't believe them, Brenda recalled. "He said as far as he could tell, that I was an overcautious mother; take her home and relax."
When Stephanie was 3 months old, her mother took her to the Mayo Clinic. "I said, I'm not leaving until you find out what's wrong with this baby," she recalled. Tests showed fluid had collapsed one of her lungs, "and things just went downhill from there."
Stephanie was transferred to Children's Hospital in Minneapolis, where she spent four more months baffling doctors with the strange constellation of symptoms, including severe seizures and trouble breathing. They sent her home to die, saying there was nothing they could do.
The Helles still have yellowed copies of the old newspaper article, dated Nov. 14, 1978, headlined "Mom, dad share care of incurable Stephanie."
"When I read that, it's such a sad story," Steven Helle, 56, said last week. "And it had such a different outcome."
Tending two sick children
Stephanie needed round-the-clock care, and the Helles managed it by working split shifts, he as a truck driver at night, she as a factory worker by day. As their family grew, Brenda worked from home as a cake decorator.
When their third child, Jonathan, was born in 1984, he started showing some of the same symptoms as his sister. At one point, Brenda remembers, Jonathan was in one hospital and Stephanie in another. "I was running from one hospital to another to take care of my kids," she said. "Looking back, I don't know how I did it. You do what you have to do."
Jonathan died when he was 6 months old. The family suspected that the disorder was inherited. But they didn't know for sure until eight years ago, when a doctor encouraged Stephanie to be tested for CDG syndrome.
"Everything fit," said Brenda. It's a rare condition, first identified in the early 1980s, that disrupts the body's ability to process sugars and function normally. The diagnosis didn't change anything, Brenda said, "but it really does help to have an answer. The unknown is so much worse." Both parents learned that they were carriers of the genetic disease.
The Helles have two other children, son Darren, 26, and daughter Jenna, almost 22, who are healthy and don't carry the CDG gene. "So they don't ever have to worry about it," Brenda said.
Today, Stephanie lives in a group home in Anoka and attends a day program called Rise Inc., for the developmentally disabled.
Stephanie communicates mostly through sound and knows a few words of sign language (although legally blind, she has some sight with eyeglasses).
Despite her limitations, her family says she has enriched their lives immeasurably. Stephanie, says her mother, has a sweet personality that shines through.
"She is a happy little girl," Brenda said. "Anybody that has come in contact with her, she just wraps them around her little finger."
At the same time, the whole family learned what it means to live with disability. Daughter Jenna, a college senior, helps take care of a girl with Down syndrome, just as she helped with her sister. "I think it gave me a lot of compassion and patience and understanding, I guess," Jenna said, smiling at her sister.
As a family, "you kind of redefine what's important to you," Brenda said. "We see joy in things that other people may not.
"Some people say ... 'Oh, poor Stephanie, she's really had it tough,'" she said. "We say, 'Oh gosh, we've got it so good.' That's what we do. We count our blessings."
Maura Lerner • 612-673-7384
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