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North Neighborhoods
Family carries its message on foot

Walk aims to raise profile of rare, deadly disorder

Wednesday, October 02, 2002

By Michael J. Dongilli

It may not be as familiar as some other childhood diseases, but it can destroy just as savagely.

And while celebrity telethons or benefit concerts aren't likely to be held anytime soon to raise money for research, a Hampton couple is hoping an annual stroll in the park will raise enough awareness of the disorder to prevent another child from dying as their daughter did.

The second Marlaina Memorial March to benefit the National Urea Cycle Disorders Foundation will be held Oct. 26 in Hartwood Park. The event is named for Paula and Michael Susi's 8-year-old daughter, who died unexpectedly in 1999 from the most common form of urea cycle disorder, ornithine transcarbamylase, or OTC.

The couple hopes that better education for families and the medical community can prevent misdiagnosis and deaths.

People born with the genetic disorder have an incurable enzyme deficiency that causes a nitrogen imbalance in the body when protein is metabolized. The condition can lead to toxic ammonia buildup in the bloodstream, with consequences as severe as irreversible brain damage or death.

Diagnosed properly, most cases can be managed successfully through diet and drug therapy. But it's not an easy diagnosis.

Infants born with severe urea cycle disorder may vomit and become increasingly lethargic, eventually having seizures and possibly slipping into a coma.

But those with mild or moderate forms of the disorder may not show any symptoms until early childhood. Then, the symptoms, such as hyperactive behavior, can easily be misinterpreted. The most common symptom is a dislike of meats and other high-protein foods.

Marlaina's ongoing distaste for such foods was attributed to picky eating habits, not a life-threatening ailment. She enjoyed and was active in the things kids her age do -- dance, soccer, swimming, Girl Scouts.

As she grew, her father nicknamed her "the peach," his tribute to the sweetness in her personality, the inviting smile that never seemed to leave her face and mostly just the affection a dad has for his daughter.

"She was so lively and friendly that most people felt like they'd known her [forever], even if they'd only been with her five minutes," her mother said.

A virus triggered the ammonia buildup in her blood that led to her death. From the moment she entered the hospital, Marlaina remained comatose. She died 33 days later.

Urea cycle disorders are considered rare, conservatively estimated at one in 10,000 births. Because they see it so infrequently, doctors are apt to miss or dismiss its occurrence.

According to Cindy LeMons, executive officer of the National Urea Cycle Disorders Foundation, 50 percent of affected children die undiagnosed in infancy or go undetected into childhood.

Paula Susi, a registered nurse, and her husband are determined to use the tragedy and Marlaina's memory to help raise awareness of the disorder.

The first memorial walk, held in 2000, grew out of an idea proposed by Marlaina's teen-age cousin, Maria Hastings, as a school project at Fox Chapel Area High School and a way to celebrate Marlaina's life. Nearly 1,000 people participated and roughly $18,000 was raised.

The walk wasn't held last year. Paula Susi explained that her family was struggling with Marlaina's death. "You can't imagine the trauma a family goes through after the death of a child," she said.

She has since learned that neither she, her husband nor their two sons, Michael, 13, and Gregory, 3, have the disorder and she has absorbed herself in learning everything about it. She's become a voice at national conferences. People call to tell her they've had their children evaluated after learning about Marlaina. LeMons asked her to accept a seat on the foundation's board, and she did.

Now, at the urging of her niece once more, the march is being held again. With the help of friends, relatives and the steps of an expected 800 local walkers, Paula Susi hopes to reach her goal:

"To find that little girl or boy who is spinning along in life like Marlaina, with a perfect balance in her diet like she had and with the potential for a devastating crisis like she did have, if they're not diagnosed."

Even if it's just one.

The Marlaina Memorial March will be held from 8 a.m. to noon Oct. 26 in Hartwood Park. The donation is $10. Preregistration is encouraged by Monday to reserve a T-shirt and receive a ticket for the auction at the event. Call 724-443-7137.

Michael J. Dongilli is a free-lance writer.

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