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A Family’s Fight for Access

Ten years later, the Bartko family reflects on finding the right treatment and stepping forward to help others do the same.

Congenital afibrinogenemia patients Emily and A.J. Bartko
Emily and A.J. Bartko at home in Las Vegas

On a recent weekday afternoon in her Las Vegas home, 13-year-old Emily Bartko squared off against her little brother A.J., 5, in a video game dance off.  In many households, the sight of a brother and sister laughing while trying to keep up with an on-screen dancer wouldn’t be anything remarkable. But for Emily and her family, this scene was something nearly unthinkable just a decade ago.

Emily and A.J. are both one in a million kids, literally. They were born with congenital afibrinogenemia, a rare hereditary bleeding disorder that affects one in one million newborns, according to the National Institutes of Health. People with congenital afibrinogenemia are born without factor I, also known as fibrinogen, in their blood and can suffer uncontrolled bleeding as a result. For Emily, this meant that as a newborn and toddler she suffered bruising from everyday activities, including simply learning to walk.

“The bottoms of her feet would be black,” her mother Alison Bartko recalled. “We did a lot of things as far as putting foam in her shoes and physical therapy but the swelling and bruising sometimes was just too much.”

It took eight weeks for Emily to get the right diagnosis after she was born and two years for her doctors to find the ideal medicine to treat her ultra-rare condition – a product that wasn’t yet available for use in the U.S.

With their doctor’s help, Emily’s parents applied to get the medicine sent to the U.S. for use on a compassionate care basis. Emily got her first dose just after he second birthday.

“This child that was always kind of fussy and always seemed a little fatigued and tired after certain things – her energy level and activity level changed that afternoon,” Alison Bartko recalled.

But the Bartko family’s fight for the right treatment for Emily didn’t end that day. To ensure continued access to treatment and to help other families dealing with the same condition, Alison stepped forward to testify in Washington, D.C. before the Food and Drug Administration’s Blood Product Advisory Committee. The group was considering approving Emily’s medicine in the United States.

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Sitting before the panel with Emily by her side at a January 2009 hearing, Alison told the committee about her daughter’s transition from a toddler who suffered too much bruising to walk to a then 2-year-old enrolled in dance class and getting her ears pierced.

“We thought it was important that we bring Emily with us so they could see this child up and walking versus the pictures we had of her bruised and not very active,” Alison said.

The product was approved just three weeks after the Bartkos’ appearance in Washington. Emily continued on the medicine and years later it ended up helping another member of the Bartko family, A.J. He has been on the same medicine as Emily since the day he was born.

Learn more about the Bartko family in the video above

Since then, the Bartkos have continued to give back to the bleeding disorder community by leading a walking team that has raised more than $75,000 for the local hemophilia foundation over the last 11 years.

“Emily didn’t walk the very first walk we did; she couldn’t,” Alison said. “So her being able to participate has been important to us every single year.”

These days, Emily is in many ways a typical active teen. She decompresses with neighborhood runs after school and has plans to become a kindergarten teacher. She also wants to share her story with kids living with this same, rare condition.

“My dreams for the future are to meet all the people that have the same bleeding disorder as me and learn about their stories and what they’ve gone through too,” Emily said.