Newborn Screening: Family Stories
"AnnaLou was diagnosed with severe combined immunodeficiency (SCID) through a newborn screening pilot program in California in 2010. Had it not been for that pilot screening, I would have never known until she had gotten sick how fatal this disease is. SCID became my life the second I found out. Her pediatrician told me she'd undergo a bone morrow transplant and have to receive treatments to maintain her health. At 2 months, she received bone marrow from me. I spent most of my time with her in the hospital, away from home during the holidays. Once she got sent home, she was in isolation...
“After a healthy and normal pregnancy, I gave birth to my daughter, Cora, on November 30, 2009. Two days later we took her home, after getting a clean bill of health at the hospital. The next 3 days were spent cuddling, getting to know each other, and waking every few hours to feed her...
"My nephew, Will, seemed so healthy at birth, and my sister and brother-in-law were so excited to be starting their family. When Will was around 3 months of age, he began to develop different infections, and my sister was always taking him to the pediatrician. At one point she asked the doctor if there was something wrong with Will because he always seemed to be sick. The doctor assured her there was nothing wrong with Will and said he was just developing 'normal' childhood infections.
Four days before Christmas in 1994, when Will was 13 months old, he came down with the chicken pox and became very ill. Again, my sister’s pediatrician said not to worry and that he had seen worse cases of chicken pox. On Christmas morning, my sister checked on Will and found that he had died in his sleep. Our family was devastated by his death. Through autopsy reports, we learned that Will was born with a disease called severe combined immunodeficiency (SCID), which meant he was born without a working immune system...
"Our first son, Ryan, was born in 1999. At 6 months old, he started getting sick and could not get over things. After about 10 months of being ill, taking medication after medication, having procedure after procedure, and seeing specialist after specialist, my son’s heart stopped, and he went on full life support. The doctors did not think he would get off life support, but he did. He was one day away from coming home when they found out he had pneumonia. Within 2 weeks, he was back on a ventilator. About a week and half after being on the ventilator, even the machines could not keep his oxygen levels up and we had to decide to let our sweet little boy go. An autopsy confirmed that he had SCID (severe combined immunodeficiency), better known as the bubble boy disease...
"Jacob was a happy baby and never even had so much as a diaper rash. Around six months of age, he developed a cough which became increasingly worse, and he was admitted to the hospital. Jacob’s cough continued to get worse despite treatment. During a particularly difficult night for Jacob, a doctor ordered a series of tests in a desperate attempt to find answers. The next morning, Jacob was diagnosed with severe combined immunodeficiency (SCID), often referred to as 'bubble boy disease...'
If you would like to share your personal story, please contact us at Contact CDC-INFO
- Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Division of Birth Defects and Developmental Disabilities
1600 Clifton Road
Atlanta, GA 30333
TTY: (888) 232-6348
- Contact CDC-INFO