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Mary Joyce of Overland Park, Kansas, lives each day as if it is a gift because, in her mind, it absolutely is. She lives with the rare Pompe disease, a degenerative muscle disease, which took her sisters life in 2013. My sister passed away only at 53," Joyce said. "I call myself in the bonus years at age 58!April 15 is International Pompe Day. Its a day to highlight the people who live with the genetic condition and to bring attention to it. Joyce said its hard to explain what Pompe has done to her. It looks like youre healthy from the outside, but its all inside," she said. "My muscles are like rubber bands -- like noodles inside. Her sister Shirley was older than her by three years, and was diagnosed first. Joyce said, When she first started having symptoms, and falling inside her house, she would call me and me and the boys would go over and help her. Years after her symptoms started, a doctor in St. Louis diagnosed Shirley. A few years later, Shirley diagnosed her sister. She said, 'You have the waddle!' Joyce said. Shirley noticed the way Marys hips moved when she walked, and urged her to get tested.The test came back positive for Pompe. Both women qualified for a clinical trial for a medication to treat Pompe. Once the double-blind study was completed and a year had passed, the sisters were told Joyce had received the medication. Shirley had not. "I felt so bad that she did not get the drug," Joyce said. "That just broke my heart. I thought why did I get it? I didn't deserve it. She was having symptoms. I was just barely starting."When asked what she misses most about her sister, Joyce answered, Everything.Joyce is now a grandmother of two, and is watching her sisters grandchildren grow. She gets enzyme replacement therapy every-other week. And she dreams, "that no one will have to endure this. That itll be somehow wiped out -- that there will be a medicine to get those newborns right away before any damage is done to the sweet babies, and that they have a wonderful, normal life.

Mary Joyce of Overland Park, Kansas, lives each day as if it is a gift because, in her mind, it absolutely is.

She lives with the rare Pompe disease, a degenerative muscle disease, which took her sisters life in 2013.

My sister passed away only at 53," Joyce said. "I call myself in the bonus years at age 58!

April 15 is International Pompe Day. Its a day to highlight the people who live with the genetic condition and to bring attention to it.

Joyce said its hard to explain what Pompe has done to her.

It looks like youre healthy from the outside, but its all inside," she said. "My muscles are like rubber bands -- like noodles inside.

Her sister Shirley was older than her by three years, and was diagnosed first.

Joyce said, When she first started having symptoms, and falling inside her house, she would call me and me and the boys would go over and help her.

Years after her symptoms started, a doctor in St. Louis diagnosed Shirley. A few years later, Shirley diagnosed her sister.

She said, 'You have the waddle!' Joyce said.

Shirley noticed the way Marys hips moved when she walked, and urged her to get tested.

The test came back positive for Pompe.

Both women qualified for a clinical trial for a medication to treat Pompe. Once the double-blind study was completed and a year had passed, the sisters were told Joyce had received the medication. Shirley had not.

"I felt so bad that she did not get the drug," Joyce said. "That just broke my heart. I thought why did I get it? I didn't deserve it. She was having symptoms. I was just barely starting."

When asked what she misses most about her sister, Joyce answered, Everything.

Joyce is now a grandmother of two, and is watching her sisters grandchildren grow.

She gets enzyme replacement therapy every-other week. And she dreams, "that no one will have to endure this. That itll be somehow wiped out -- that there will be a medicine to get those newborns right away before any damage is done to the sweet babies, and that they have a wonderful, normal life.

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International Pompe Day highlighting those who live with rare genetic condition - KMBC Kansas City

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