Smith-Magenis Syndrome

When Brittney Bohn was born 14 years ago, she looked like a healthy baby girl. But within months, her parents Cindy and Marty Bohn suspected something was wrong.

As Brittney approached each major milestone, her development was delayed. She didn't walk until she was 2. She never learned to sleep through the night. And at age 4, her day-care providers couldn't understand a word she was saying.

With each passing year, the physical differences between Brittney and her family grew. Her palms are large. She stands only 4 feet 8, while her younger sister is 5 feet 5. And she has a habit of pulling out her toenails, among other self-destructive tendencies.

Until last summer, doctors had diagnosed her as having attention deficit hyperactivity disorder and pervasive developmental delay, an umbrella term for a variety of brain disorders.

Finally, a new pediatrician sent Brittney to the Inland Northwest Genetics Clinic, a nonprofit organization that diagnoses genetic problems and provides counseling and education to patients. During Brittney's first appointment, Dr. Jude Martin suspected what was wrong.

"She handed us a piece of paper and said, 'I think this is what she has,' " Cindy Bohn said.

The diagnosis: Smith-Magenis syndrome, which is caused when part of chromosome 17 is missing.

"Every single (characteristic) you read was Brittney," Cindy Bohn said. "Even taking off her toenails has a name."

The genetics clinic has been helping families pinpoint disorders and diseases since 1975 - a decade before genetic fingerprinting was first used in the courts and almost 20 years before the first genetically engineered foods were approved. The clinic will celebrate its 30th anniversary this winter without fanfare; it simply will continue its work with patients at its South Hill offices.

"Knowledge is power," genetic counselor Lael Hinds said. "Knowing what their risks are provides (patients) with solid information on which they can base their decisions."

Often the decisions the clinic's patients face are difficult, though. A woman who learns she has mutations in certain genes might decide to have her breasts and ovaries removed to prevent cancer. A couple who have given birth to a baby with a birth defect might choose not to have more children.

But the clinic delivers good news, too. A disorder in a baby could have been caused by a fluke in the womb, not heredity. And a person with a family history of cancer might learn that she doesn't carry the gene.

"If you didn't get the gene, why have your breasts removed?" Martin asked.

Patients at the clinic roughly fit into one of three categories: pregnant women whose ultrasound was abnormal, people with cancer or who risk getting it, and genetic patients, who are mostly children with birth defects, growth delays and mental retardation.

Narrowing in on a disease can make a world of difference. For example, Phenylketonuria (PKU), a genetic problem that causes a build- up of protein in the bloodstream, occurs in one in 14,000 infants in the U.S., according to the March of Dimes. PKU can be controlled with a strict diet, but if it isn't diagnosed and the diet isn't followed, the child will suffer mental retardation.

"If we can detect things early, we can address them before they become big," Martin said.

That was the case for Heather Sutherland's son, Parker. Two days after he was born, the clinic was able to tell her about a chromosomal abnormality he has. Parker has low muscle tone, wears hearing aids and is just learning to walk at age 4.

Without the diagnosis, "I feel like we might have been told by people, 'Oh, he'll get it when he's ready,' " she said.

Instead, Sutherland was able to get help early and enroll Parker in the Spokane Guilds' School.

And although it took almost 14 years for an accurate diagnosis, Brittney Bohn has made strides, too, since her family learned she had Smith-Magenis syndrome. She is on two medications now instead of nine and her behavior has improved.

"Now we know what we're dealing with, and they can focus more on the problems in the syndrome," Cindy Bohn said.

The Inland Northwest Genetics Clinic was founded on a state grant worth about $15,000, said Elise Chadwick, who applied for the money through her job with the Spokane Regional Health District in the early 1970s. Chadwick retired 22 years ago, but serves as vice president of the clinic's board now.

"We set up in Deaconess (Medical Center), and we were on our way," she said.

Chadwick understood the need for a local genetics clinic firsthand. Her two youngest children had disabilities, so she spent a lot of time - and money - in Seattle with the geneticists at the University of Washington School of Medicine.

"By the time you take children over and stay at hotels, a lot of families probably couldn't manage that," Chadwick said.

The Inland Northwest Genetics Clinic still is the only such clinic between here and Seattle, and it serves patients from throughout the region regardless of their ability to pay, Martin said. Genetic testing is expensive, so it's unique that the clinic is a nonprofit and not affiliated with a medical school, she said.

"You don't make money; you lose money," Martin said.

The clinic is funded by Sacred Heart Medical Center and Deaconess, as well as by a state grant and donations from private foundations and individuals. Some insurance companies cover the cost of genetic testing, but some patients decide not to use their insurance, fearing the companies will drop their coverage if they find out they have cancer or some other serious disease, Martin said.

Throughout the last 30 years, the genetics field has evolved, but one constant has held steady at the clinic, said Dr. Mike Donlan, who was a medical director there during its first 25 years.

"We're not in the decision-making business," he said. "Families need to make their own decision that's right for them, but we think they should make it with the best knowledge that they can have."

That principle has helped the clinic steer clear of the ethical dilemmas that genetics sometimes raises.

"People think that genetics equals abortion ... and that's clearly not true," Donlan said.

Information from the clinic helped Libby, Mont., resident Anne Weber make the best decision for her family, she said. Her son, Luke, was born three months premature and with Down syndrome six years ago. She and her husband wanted a second child, but the memory of her 1 pound 15 ounce son sitting in the palm of her doctor's hand made her worry she'd deliver early again.

"They helped us weigh the risks, and helped provide information," Weber said.

Weber praised the clinic for its personable approach and for its accessibility. She said if she had to travel to Seattle for care, she wouldn't be able to live in the rural area she loves with her husband, with Luke and with her 2-year-old daughter, Sally, whom they adopted from China.

SIDEBAR:TO LEARN MORE The Inland Northwest Genetics Clinic, 2607 S. Southeast Blvd., can be reached at (509) 535-2278.

Megan Cooley can be reached at (509) 927-2165 or meganc@spokesman.com.

Copyright c 2005 The Spokesman-Review
Provided by ProQuest Information and Learning Company. All rights Reserved.