Rare Disease Day raises awareness of hopes & struggles

Monday, February 29, 2016
VIDEO: Rare Disease Day raises awareness of hopes & struggles
Rare Disease Day is so important to many families.

Playing with his older brothers, 3-year-old Luke Martine appears to be just like any other child.

But his parents say as soon as he was born, something seemed wrong.

"He started turning blue. Next thing we knew he was being intubated and then he was being extubated because he was over-ventilated and that really started this roller coaster ride," Luke's mother Becky Martine said.

That ride lead to a diagnosis of Congenital Central Hypoventilation Syndrome or CCHS, a very rare disease where the part of the brain that controls breathing while you sleep malfunctions.

"Their body either stops breathing or it doesn't breathe deep enough to maintain oxygen levels and blow off CO2," Becky said.

So most, like Luke, have a tube in the trachea and are hooked up to a ventilator.

And it's not just at nighttime because kids tend to fall asleep various places.

The Martines started a foundation to help raise money for research.

Because so few are affected with CCHS, it doesn't get a lot of attention. Neither do other rare diseases.

That's why Rare Disease Day, the last day of February each year, is so important.

"If we come together and actually have a day dedicated to it, it gets more focus," Luke's father Chris Martine said.

The above video features dozens of kids battling different rare diseases. It was created by 19-year-old Taylor Nearon of King of Prussia. She has Mast Cell Activation Disorder, another poorly understood, disruptive disease.

Many want a cure or at the very least, some improvement.

"The hope is they are able to more easily live a normal life," Chris said.


For more information about CCHS: