Can We Prevent Leukemia in Patients With Shwachman-Diamond Syndrome?

Anna Nazarenko doesn’t see herself as sick. The strong-willed, spunky 6-year-old loves to dance and ski, and spent much of April Fool’s day pranking her parents. Aside from the enzymes she takes to help digest her food, you wouldn’t know that she has Shwachman-Diamond syndrome (SDS). The rare, inherited type of bone marrow failure has also … Read more

Innovative Gene Editing Could Cure Severe Congenital Neutropenia

Fionn Mulrooney, a cheerful 11-month-old, in Plymouth, Massachusetts, has no idea he has a life-threatening genetic disease. Nor does he seem fazed by the daily subcutaneous injections his parents have learned how to give him. And little does he know that cells from his bone marrow are helping scientists develop an innovative gene-editing approach that … Read more

Aplastic Anemia or Dyskeratosis Congenita? Unclear Diagnosis Demands 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 … Read more