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Health Sentinel: Prader-Willi syndrome rare, difficult to diagnose

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Helping out

What: Fundraisers for the Prader-Willi Syndrome Association of Indiana and for Prader-Willi Syndrome Association (USA) in honor of Emily Spano.
When: Through Oct. 10 on Facebook, and Oct. 13 event
Where: King Gyros, 814 Goshen Road and on Facebook
Details: 10 percent of all food sales Oct. 13 will be donated to the Indiana PWS association to provide education and support services for Indiana families dealing with the disorder.
The Facebook fundraiser for the national PWS association continues through Oct. 10, with every “like” on King Gyros Facebook page generating a $1 donation from the restaurant, up to $1,000. Visit www.facebook.com/KingGyros.
Other help
Only one in every 12,000 to 15,000 children is born with Prader-Willi syndrome (PWS), says Amy Pfeiffer, executive director of the Indiana PWS association, so the challenge is helping families connect for support and knowledge. To that end, the Indiana Association is sponsoring a multi-state conference Saturday in Indianapolis, with leading researchers and experts in PWS on the agenda.
To learn more about Prader-Willi syndrome, visit www.pwsausa.org or the Indiana affiliate's Website at www.pwsaindiana.org or email Pfeiffer at amypfeiffer@comast.net.

Monday, October 1, 2012 - 12:01 am

Emily Spano's long blond hair went flying as she headed toward the bushes in front of her house.

“Play hide 'n seek. Play hide 'n seek,” she squealed in a higher-than-normal pitch, even for a 7-year-old.

Emily crouched behind some large evergreen shrubs and waited for the neighbor man to come find her. He took his time but Emily's size, much larger than usual for a 7-year-old, made it difficult for her to stay out of view.

It was the kind of normal fall fun most any child likes to have after a day of school. Emily attends Brentwood Elementary School. She likes to play games on the computer and loves to jam with her dad, who plays in a rock band he started after the family moved to Fort Wayne from Arkansas about 18 months ago.

But the list of out-of-the-norm things Emily and her parents, Leslie and Shawn Spano, contend with daily is a lengthy one due to a genetic disorder Emily has called Prader-Willi syndrome (PWS).

The disorder is caused by missing, duplicated or defective genes on the 15th chromosome, one of the most complicated of the 23 chromosome pairs we have in our body.

Among the challenges Emily and her parents face: people with PWS crave food constantly and they have lower intellectual ability and physical and social challenges.

Emily picks at her skin, scraping it off until it bleeds. Her arms are frequently bandaged and antibiotic ointment needed to stave off infection. The skin picking is a common habit among people with PWS, though the reason is unclear.

“She's got some OCD (obsessive compulsive disorder),” Leslie says, noting just moving Emily's books from where Emily put them can be upsetting.

“She's also an escape artist. We have to watch her constantly,” says Shawn, who works at Steel Dynamics. Multiple locks are on every door. Sleep problems are common, and lately Emily wakes up around 2:30 a.m., raring to go.

One of the first signs a newborn might have PWS is extremely poor muscle tone, sometimes dubbed “floppy baby syndrome.” The poor muscle tone leads to the inability to suck, so most children with PWS remain underweight for the first year or so.

That was Emily's situation. She was hospitalized for a month after birth. A special bottle that can be squeezed to push small amounts of milk into the mouth was used successfully so no feeding tube was required. But weight gain was slow, so doctors prescribed a high-caloric formula and protein drink as she got older.

Had doctors known then Emily had PWS, a different approach would have been taken. In just two years Emily went from wearing a size 6 to a size 16, which is what she wears today.

It took four years of many tests ordered by multiple doctors before a specialist in Memphis took one look at Emily and said she has PWS. A genetic test for PWS had been done after birth bit it was a less definitive one. A newer, more accurate test finally confirmed PWS.

An earlier diagnosis would not only have benefited Emily physically, it would have prevented the Spanos' brief but disturbing involvement with child protection authorities in Arkansas.

Authorities were contacted by Emily's preschool because teachers thought her obesity must be due to the family feeding her fatty junk food. Investigators combed the house for evidence of Emily being fed a poor diet but instead found “low-fat yogurt, almond (soy) milk and other healthy things,” Leslie recalls.

The investigator left saying Emily was clearly being fed the right foods. Still, at that point, Emily's problems remained a mystery. It's a situation the Spanos hope no other family has to go through, but several similar cases of undiagnosed PWS and child services involvement have been profiled on national media.

Though some with PWS so crave food the refrigerator must be padlocked, the Spanos say, for now, they can usually distract Emily when she wants to eat 10 minutes after finishing a meal. She uses a small plate, and Leslie and Shawn reinforce with Emily that when her plate is clean, she is full.

Emily is the youngest of the Spanos' five children in their blended family. While it would be easy for them to focus on Emily's disabilities, Leslie and Shawn prefer to talk about what she can do. Emily's specialty: Making friends and showing love to others.

If children she doesn't know walk by the house, Emily greets them with a wave and asks, “Wanna play?” She gives hugs freely and loves to cuddle with mom or dad. Her almond-shaped eyes, also a classic sign of PWS, seem to get lost in her wide, toothy smile.

“She knows no strangers,” Shawn Spano says.

That was one of the qualities that drew Nick Sakellariou to Emily when the family went out for dinner one day this summer at King Gyros, 814 Goshen Road. Sakellariou's parents own the restaurant.

“What really struck me is she came in full of energy and happy. She has this condition, and yet I thought, “How can she be so happy?'”

Watching Emily and learning about PWS from her parents that day spurred Sakellariou to launch a Facebook fundraiser for the Prader-Willi Syndrome Association (USA) and its Indiana affiliate via King Gyro's Facebook page, as well to sponsor an Oct. 13 fundraiser at the restaurant.

“After meeting Emily and learning about her condition,” Sakellariou says, “how could I not do this.”

This column is the personal opinion of the writer and does not necessarily reflect the views or opinion of The News-Sentinel.