Breaking It Down
By Harmeet Bhagrath 15C
How do you explain a rare genetic disease to a child who has one?
Dawn Laney, a genetic counselor, research coordinator, and instructor in Emory’s Department of Human Genetics, faced this dilemma with some of her younger patients. So she authored or coauthored three children’s books to explain the complex and rare disorders Fabry disease, Mucopolysaccharidoses (MPS), and Pompe disease in a simple, nonthreatening way.
Laney works closely with patients affected by lysosomal storage diseases, primarily Fabry disease. After diagnosis, she must explain the test results and potential treatment options to patients and their families.
Her first book, Joe Learns about Fabry Disease, explains the disease to Joe using a simple analogy of a bathtub with a clogged drain. When the drain is clogged, the bathtub overflows. Similarly, because Joe has Fabry disease, his body gets clogged with “gunk,” which is why Joe often feels tired or experiences pain. When using the story in the clinic, Laney finds that the children often relate to the main character. More than once she has heard them say, “Joe has the disease I have!”