Adrianna was born with type 1 Gaucher Disease, a genetic condition in which an enzyme is missing from the body. This leads to a build up of fatty cells that can cause damage throughout the body. For Adrianna, this has led to intense bone pain, low platelet count, anemia, extreme fatigue and enlargement of the liver and spleen. Throughout childhood she was constantly brushed off by doctors when seeking help, even when one doctor noticed her labs were off. She was accused of laziness when physical exertion was a struggle, or asked if she was pregnant when her organs noticeably swelled. It wasn’t until her sister was diagnosed with Gaucher disease that Adrianna’s symptoms were finally taken seriously, and she was officially diagnosed at 18 years old. Although this validated a lifetime of knowing something was wrong, the struggle to successfully manage this disease was just beginning.
In this episode of the Major Pain podcast, Adrianna teaches us about her rare disease while sharing the experience of learning to live with it. Once she was diagnosed she began enzyme replacement therapy, requiring a port to be surgically implanted so she could do infusions at home. Unfortunately, early into her therapy the manufacturing process behind this drug changed, but nobody informed her the dosage was now less potent. Adrianna would continue to infuse the wrong dosage for over a decade until the drug manufacturer finally got consent to contact her. Now that she is finally on the right dosage of this medication Adrianna has experienced significant improvements in her fatigue, and her labs have moved in a positive direction. Her chronic bone pain has continued to be a challenge, and she shares the ways in which she manages this obstacle. Although this disease initially made Adrianna sad and embarrassed, the trajectory of her journey has led to a place of acceptance. She isn’t sure exactly when she made peace with her disease, but is grateful to have arrived at a positive place.
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