Bailey Lightner’s parents thought their newborn seemed paler than most babies, but her doctor believed there was no cause for concern. She was just fair-skinned, the doctor said, and other than being smaller than many newborns, she was gaining weight and meeting developmental milestones.
HEAR Bailey's parents interview on Radiothon 2010!
Around the time their daughter was six months old, her parents believed all was not well. She was eating less and seemed to tire easily. Her sleep was erratic and short. A cold had come and gone but the symptoms persisted, including an occasional cough. Despite family and friends’ assurance that this was normal behavior for a baby, the Lightners made another appointment with the pediatrician. This time, a different doctor saw Bailey. A heel prick test confirmed her concern for the baby’s pallor. The baby was severely anemic. Her coughs had most likely been gasps for air, given she wasn’t getting enough oxygen.
Bailey was rushed to the emergency room at a local hospital and from there transferred by ambulance to Hopkins Children’s where an experienced pediatric hematology team awaited her.
During her three-day stay at Hopkins, Bailey received four blood transfusions, as pediatric hematologist John J. Strouse and his colleagues narrowed in on the possible diagnosis of Diamond-Blackfan Anemia (DBA). The diagnosis was confirmed a few months later, following a bone marrow biopsy/aspiration, additional blood tests and genetic testing.
DBA is a rare blood disorder in which bone marrow does not produce red blood cells, causing patients to become severely anemic. DBA affects 400-500 people in North America, with only 25-35 new cases reported each year.
Blood transfusions and/or corticosteroid therapy are the only treatment options at this time, with bone marrow transplant being the only “cure.” Some patients will experience a remission.
Today, Bailey receives packed red blood cell transfusions every month, February through September, at Hopkins Children’s, where she was enrolled September 2009 in a trial use of steroids. In some individuals, steroids stimulate the body to make red blood cells. If the treatment doesn’t work for Bailey, she will return to blood transfusions and possibly a bone marrow transplant down the road.
For the time being, says her mother, “we feel blessed to live close to Johns Hopkins. Dr. Strouse is a kind and knowledgeable doctor who always takes the time to answer questions and explain the next step in her treatment. The nurses in the infusion clinic are amazing and we are always welcomed as though we’ve been missed.”