Aplastic anemia or dyskeratosis congenita? Unclear diagnosis forces a difficult decision

Having a child diagnosed with a life-threatening illness is heart-wrenching for all parents, but when the diagnosis itself is uncertain, parents can face excruciatingly difficult decisions. This is what Katie and Josh Stevens of Idaho confronted after their son Riley was diagnosed in October 2012 with the blood disorder aplastic anemia, in which the body’s bone marrow produces too few oxygen-carrying red blood cells, too few infection-fighting white blood cells and too few clot-promoting platelets. He was an 11-year-old skier and runner who was tired, bruised and unable to shake a cold. When his blood was drawn, he became pale, and his lips turned blue. So Riley began a course of medications to suppress his immune system, but he had only a minimal response to the therapy. He needed a stem cell transplant. Further testing at Seattle Children’s revealed Riley had shortened telomeres, or ends of chromosones, which stymied cells’ ability to regenerate. This is characteristic of another rare bone marrow failure syndrome called dyskeratosis congenita (DC), but Riley did not manifest other telltale signs of DC such as white spots in the mouth, lacy rash around the neck and brittle nails. Katie and Josh would need to decide between two very different stem cell transplant options. Riley’s stem cell transplant options The lack of clarity about the diagnosis left Riley’s parents with an important, but difficult decision: Should their son undergo the st...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Akiko Shimamura Aplastic anemia Bone marrow Failure Program Dana-Farber/Boston Children's Cancer and Blood Disorders Center stem cell transplant Suneet Agarwal Source Type: news

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