Family Raises Money to Reverse Rare Disorder Affecting Daughter

By Heather Hubbs, Reporter

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By Heather Hubbs

MASONVILLE, Iowa-- Imagine for a moment, your child is hungry or sick but has no way to express it.
Understands questions, but can not answer. Knows want they want, but can't say it. These are just some of the symptoms of a rare disorder known as Rett syndrome. There are only 35 reported cases of of Rett syndrome in the state of Iowa. It's a disorder that mainly effects girls. One of those girls is Estelle Robinson whose family lives in Masonville.

When Estelle Robinson was first born she was, by all accounts, a happy, healthy baby girl.

"She developed normally sat up when she should, started crawling at the time she should," Said Teresa Robinson, Estelle's Mom.

Then things started to change.

"The first thing we noticed that wasn't quite right is she walked upright on her knees. Her knees looked like our heels so we just thought it was something silly she did," said Teresa.

But at almost two years old Estelle still wasn't walking.
That started nearly 7 months of testing, going from doctor to doctor, none could find anything wrong with Estelle. Finally a speech pathologist recognized what blood tests would later confirm, Estelle had a rare developmental disorder that only effects about 1 in 10,000 girls, known as Rett Sydrome.

"Estelle is very fortunate, she doesn't have many symptoms that a lot of girls with Rett Syndrome do. Her primary symptom is she can't speak and she can't use her hands functionally. You'll see she claps all the time," said Teresa.

That meaningless, repetitive hand movement is the major sign of Retts. The genetic disorder stunts brain development and growth, leaving many unable to speak. Estelle is now six years old. She doesn't talk, instead she uses her eyes to communicate. She loves to watch tv and be read to by her older sisters.

"She's a happy beautiful little girl, brightens everybody life. One of the teachers said the other day she's the most popular girl K-12," said Matt Robinson, Estelle's Dad.

Estelle's family hopes to turn her popularity into action. They are raising money for The International Rett Syndrome Foundation, the leading Rett Researchers, who say they are on the cusp of a breakthrough to reverse Rett's. Which would allow the Robinson's and families like theirs to once again have happy, healthy baby girls.

The Robinson's are hosting a 5k run walk Saturday. May 11th at 10am on main street in Ryan, Iowa. There will also be a live and silent auction and a dunk tank filled with teachers.
All to raise money for the International Rett Syndrome Foundation.

For more information on the fundraiser:
https://www.facebook.com/pages/Reverse-Rett/352485548178799

http://www.fitnesssports.com/MAY_RACES/RETTRun-Ryan/Reverse%20Rett%205K%20Reg2013.pdf

To donate to International Rett Syndrome Foundation:
http://www.firstgiving.com/fundraiser/estelle-robinson/careandcurecafe

Learn more about Rett Syndrome:
http://www.rettsyndrome.org/

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