Indiana family works to raise awareness of rare genetic disorder - 13 WTHR Indianapolis

Indiana family works to raise awareness of rare genetic disorder

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Lauren Pfeiffer Lauren Pfeiffer
Her strawberry blonde hair is a family trademark. Her strawberry blonde hair is a family trademark.
Her family has to keep the fridge locked. Her family has to keep the fridge locked.
INDIANAPOLIS -

At the age of 9, Lauren Pfeiffer is into the same things most girls her age love: Justin Bieber, playing softball and hanging out with friends.

Even her strawberry blonde hair is a family trademark.

But there is one thing that sets Lauren apart from other girls, and from most people. Lauren can't stop eating.

"It's very tough," explains her mom, Amy Pfeiffer.

Lauren was born with a rare genetic disorder known as Prader-Willi Syndrome. Developmental delays, learning disabilities and extreme behavior problems are all ways the disorder manifests itself - along with constant hunger pangs.

Left unsupervised, those with the disorder could literally eat themselves to death.

Amy and her husband, Mike, suspected something was wrong with their first-born when, after being born eight weeks premature, Lauren rarely woke up and was too weak to nurse or take a bottle. A genetic test led to the diagnosis.

"It's just devastating and heartbreaking," Amy recalls, explaining how she felt upon first hearing the news.

"It sounds extreme, but in reality, you lost the child you thought you were having. It's almost like she had died. The child I thought I had was gone. It takes time to come around and say 'we're not going to let this rule our lives,'" said Amy.

Because PWS is a rare disorder - it affects about 1 of every 12,000-15,000 live births - it often goes undiagnosed. 

The Pfeiffers wanted to change that and to help other families in their situation.

In 2007, they started the Prader-Willi Organization of Indiana.  In 2010, they organized "On the Move," a 5K Run and one-mile family walk.

The annual event takes place Saturday, May 18th, at Fort Harrison State Park. 

70% of the money raised at the event stays in Indiana and is used to support other families dealing with the challenges of raising a child with PWS.

The Pfeiffers know those challenges well.

"The thing I'm noticing most is our whole society revolves around food," laments Amy.

Lauren's life revolves around when her next snack or meal is coming. She has trouble concentrating. She will never be able to live independently because of the hunger.

With three other daughters to raise, it's a difficult situation for the south side family.

Because Lauren constantly craves food, the family is on a strict eating schedule.  Lauren's metabolism is slower, so her calories must be closely monitored.  Growth hormones help, but Amy admits she sometimes has to go to extremes.

"We do have to keep the refrigerator locked," she says.

And she sometimes sneaks food to her other children to keep Lauren from overeating.

Lauren, herself, is also starting to notice that she's not like other girls her age.

"I know she is starting to recognize differences," worries Amy.  "She plays by herself a lot because she can't keep up with kids.  A lot of kids (with PWS) fall on the autism spectrum somewhere.  She can be very social but she has a hard time.  If it's a structured game, she can play it.  But if kids are just on the playground she just can't fit in with that.  It's something we're working on."

Lauren has dozens of scabs that mark her arms and legs.  "She picks her skin until she bleeds," explains her Mom.

Yet they hold onto hope, and rely on the support of friends and the community.

Classmates from Lauren's third grade class at South Creek Elementary School in Franklin Township have been understanding.  Two of her friends even asked for donations in lieu of birthday presents at a recent party.

The organization itself - through the 5K run - raises about $20,000 each year.

But there is more to do.

"Until they can find a cure for this hunger, she will always have to be supervised," explains Amy.

Lauren continues to receive speech and occupational therapy.

While her genetic disposition may set her apart from most girls her age - and even her own family - a look at her toothy, infectious smile is perhaps an indication that her parent's efforts aren't in vain.

"We're going to do everything we can to giver her the best life we can," Amy says.

 Learn more about Prader-Willi Syndrome and how you can help.

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