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Kelowna  

Living with a rare illness

Imagine having to breathe through a straw. Every minute of every day, for the rest of your life.

That is the reality for three-year-old Isla Miller of Kelowna, who suffers from an extremely rare condition called Neuroendocrine Hyperplasia of Infancy (NEHI).

It is so rare, her mother says it's the only case she knows of in the province, and there are only 500 reported cases worldwide.

“It is very poorly understood,” explains mom Julie Miller, who says many cases are misdiagnosed as asthma. “Her lungs actually trap air so she can never fully exhale. So every time she inhales, she cannot inhale fully. It is this constant battle of trying to get the air out of her lungs.”

As today, Feb. 28, is Rare Disease Day and February is Children’s Interstitial and Diffuse Lung Disease Awareness Month (chILD), Isla's mom wants to get the word out.

“I want to raise awareness,” says Miller. “We have a really hard time because we are a really small group. It is lonely mostly and incredibly frustrating.”

Miller says they knew something was wrong right when Isla was born but doctors couldn't figure it out.

She says after several trips to the hospital locally, doctors sent them to Vancouver to go to BC Children's Hospital for more help.

“That is when we were given the diagnosis,” says Miller. “She has been on supplemental oxygen basically every day since. That is the only treatment there is, and it isn't really even a treatment it just helps the body copes with it.”

Because of that, her parents often fear any form or flu or cold or respiratory illness that would hurt her more than other children.

“It is isolating and scary,” adds Miller who says she is able to get some support from other parents across the world online.

“There is no research, no definite prognosis, and no cure for any of the 17 subtypes of chILD,” adds Miller who says Isla will likely deal with the condition her entire life, but to what degree they just don’t know.

“The disease was only discovered in 2004, so there are no patients that are even old enough to know what the long term effects really are.”

For more information on Isla's condition check out their foundation page here.



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