Siblings’ disparate outcomes are emblematic of how important an early diagnosis can be
By KELLY BOTHUM • The News Journal • October 12, 2010
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Both of Donna Sawyer’s children were born with the same life-threatening immune disorder that left their tiny bodies susceptible to infections from even minor viruses, bacteria and fungi.
Today, her 12-year-old son, Austin, is a Boy Scout, baseball player and straight-A student at Conrad School of the Sciences. Her daughter, Alex, who is 15, has cognitive deficits and is in special education classes at Christiana High School. She has gone through years of speech, physical and occupational therapies, yet still struggles with physical limitations on her left side caused by a stroke she suffered at 9 months old.
The difference between her children’s outcomes, Sawyer said, is early detection. Austin and Alex have severe combined immunodeficiency, or SCID, a rare condition in which patients are essentially born without a functioning immune system. As a result, they can’t fight off the germs the same way as someone with a functioning immune system. Without treatment, children born with SCID rarely live past their 2nd birthday.
Alex was 9 months old before she was diagnosed with SCID, believed to occur once in every 100,000 births. In that time, she battled repeated ear infections, diarrhea and vomiting, and never seemed to get better. After her diagnosis, she underwent a bone marrow transplant and slowly began to recover, but not before her body went into organ failure. She spent two months on life support and suffered a massive stroke that left her with permanent damage to her brain and the left side of her body.
Because of Alex’s diagnosis, Austin was screened at birth for the genetic disorder. Like his sister, he underwent a bone marrow transplant at Duke University, but suffered none of the complications she did.
“Today, his quality of life is much better than Alex,” said Sawyer, who lives in Newark. “Life is going to be a struggle for her.”
Sawyer hopes to save other children from what Alex experienced by getting SCID added to the panel of diseases newborns are screened for in Delaware.
