Rare Bone Marrow Disease With Only One Cure
Only one procedure can cure Steve and Stacy Trebing's daughter.
Dec. 21, 2007— -- Within hours of Katie Trebing's birth Dec. 12, 2002, she needed a blood transfusion to save her life -- the first of many to come. Steve and Stacy Trebing's daughter was born with Diamond Blackfan anemia, a rare bone marrow disease that affects just 30 out of every 4 million newborns each year in the United States and Canada.
Stacy has not forgotten the day her pediatrician broke the news.
"I remember vividly being in his office, holding Katie, and him saying, 'You're gonna be tied to hospitals for the rest of your life.'"
Katie's body would never make any red blood cells to carry oxygen to her organs. The Trebings' took Katie to see Diamond Blackfan anemia specialist Dr. Jeffrey Lipton, who by chance practices less than a half hour from their Long Island, N.Y., home. Stacy taped the conversation because there was so much information to absorb.
"He spent five hours with us explaining Diamond Blackfan anemia, explaining the prevalence, explaining what it does to your body, explaining the possible treatment choices, explaining what each treatment choice would, could or may or would do to Katie," she said.
Lipton told the Trebings that Katie needed transfusions every three to four weeks or she would die.
"It is a lifelong process," said . Lipton. "It can be devastating for the patient."
The transfusions would cause iron to build up in her organs, starting with the liver and heart. The damage meant a shorter life — more than 40 percent of Diamond Blackfan patients using transfusion therapy die by the age of 40.
Oral steroids were a second treatment option that could spur Katie's body into producing red blood cells. But the drugs would cause weight gain and could stunt growth, and came with a laundry list of major long-term side effects.
There was one way to cure Katie and allow her to live a normal life: a bone marrow transplant from a perfectly matched sibling. But Katie's older brother Calvin was not a match. They would need to give Katie another sibling. Lipton told them about a specific process that would ensure that their next child, and Katie, would share the same bone marrow DNA. To Steve, the whole thing seemed more like science fiction.
"It was surreal. I mean, I thought it was just in the movies," he said.
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