A family's quest to cure their sick child

Everything about the delivery at St. Catherine of Siena Medical Center in Smithtown had been normal. Steve Trebing was convinced he was about to have another son and was surprised when the obstetrician said the baby was a girl. The doctor immediately handed Katie to her mom, Stacy Trebing, and Katie eagerly breast-fed.

After the 7:30 a.m. delivery, an ecstatic Steve went home to Nesconset to tell the couple's then 2-year-old son Calvin he had a sister. Stacy settled into her hospital room to rest before family and friends arrived to see the newest Trebing.

Then worry arrived with a nurse.

"Katie's blood tests are abnormal," she said. Specifically, the baby's hemoglobin count was low. This meant she was not getting enough oxygen into her bloodstream.

In the nursery, Katie lay under an oxygen hood, her stomach heaving as she labored to breathe.

Stacy called Steve and told him to please rush back. Rattled, Steve arrived in the hospital room just as the doctor said, "There's a problem."

Three months and many medical tests later, Katie's parents learned their daughter had been born with a rare bone marrow disease called Diamond Blackfan anemia. Approximately 30 children are born with this disease each year in the United States and Canada.

Katie's bone marrow would never make the red blood cells that carry oxygen to the body's organs, keeping them alive. Every month, Katie would need a blood transfusion to supply her with someone else's red blood cells -- or she would die.

Such transfusions carry a high cost. Month after month, year after year, iron builds up in the liver and heart, causing the organs to deteriorate. The toll could kill Katie by her 40s.

A second treatment option, oral steroids, also poses serious side effects, including an increased risk of infections.