A Patient's Story: Isabel
February is Rare Disease Month, which helps raise awareness of the 30 million people in the U.S. who have a rare disease, like the blood disorder hereditary thrombotic thrombocytopenic purpura (hTTP). At age 5, Isabel Dabrowski is as comfortable with a hospital waiting room as the nurses who work there. That’s because Isabel, or Isabel the Incredible, as she has been called, was diagnosed with hTTP when she was just 10 months old.
hTTP is a rare autosomal recessed disorder caused by an ADAMSTS13 mutation. Carly, Isabel’s mother, says that due to a missing enzyme, Isabel is at risk for both bleeding and clotting, “Some people will get this once in their lifetime and it is a medical emergency, but Isabel is having the same medical emergency over and over again. She has had close to 30 episodes since birth.”
This disease is not what makes Isabel so incredible though. “There was a point when she was about 3 years old,” Carly recounts, “before she got her first port. The hospital staff was in awe of her because adults could not handle what she did. We call her incredible because that is truly what she is.” Isabel has stoically endured countless blood draws, procedures, and scans. “She loves to dance, and I think she uses that to cope. She can dance at the hospital. She can dance at home. It gives her something to focus on.”
Isabel continues to dance in for her antihemophilic factor infusions or plasma transfusions three times a week. “We are dependent on blood donors, and Isabel is just one of so many. Just one hour out of someone’s day can help save three lives. Every day Isabel counts on someone making a lifesaving decision to donate.”
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