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This little girl has a very rare disease you probably don’t know about

10 Aug, 2016
This little girl has a very rare disease you probably don’t know about

Noonan syndrome causes growth deficiency., heart abnormalities, characteristic facial features, and mild intellectual disability.

Noonan syndrome is genetic disorder so rare that only one in 1,000 – 5,000 children has it, and three-year-old Ellie Madigan is part of that tiny fraction of children.

Known to cause heart abnormalities, characteristic facial features, and for some children mild intellectual disability, Noonan syndrome causes a growth deficiency.

That’s why Ellie’s uncharacteristically small for her age.

“She is in the third percentile for weight and measures below 0.3 percentile for height,” said a Mama Mia article. “When she was just four months old, Ellie weighed 300 grams less than her birth weight.”

Living in a small town in Western Australia, Ellie’s condition took a year and a half to diagnose.

“While Ellie is fortunate with her diagnosis, there are so many other children out there with varying degrees who are severely mentally disabled,” her mom Natalie told Mama Mia.

After being in and out of the hospital since she was six weeks old, Ellie has grown accustomed to being fed by a naso-gastric tube.

In fact, she only recently started chewing and eating proper meals.

Her mother adds:

“Ellie undergoes constant Physio and Occupational Therapy to try and gain greater control over her muscles, as she suffers from low muscle toning. It’s a side effect of Noonan’s syndrome, making everyday tasks, like walking and sitting, difficult.

“She is affected by global developmental delay (GDD), being 18 months behind her peers on the developmental side, therefore she doesn’t know how to interact with other children her own age.”

Despite her condition, Ellie continues to brighten the world of her family.

She is described by her mother as a “bright and happy three-year-old.” She even started with swimming lessons this year. She also plays with her two brothers.

She may appear small, but Natalie says her daughter is a strong fighter.

If you have any insights, questions or comments regarding the topic, please share them in our Comment box below or check out theAsianparent Community for more insightful parenting news and tips . Like us on Facebook and follow us on Google+ to stay up-to-date on the latest from theAsianparent.com Malaysia!

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James Martinez

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