Newborn Screening: Family Stories
Jacob’s Story—Written by His Mother, Marisa
“Newborn screening will lower the risk of illness before transplant and reduce the length of hospitalization for these babies and their families. Newborn screening for SCID will save lives."
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.”
Children born with SCID have little to no immune system. Without a bone marrow transplant, most will not live past the first 1-2 years of life. Babies with SCID have no way of fighting common infections and, therefore, should not be exposed to the outside world before a transplant can be done. Until recently, there was no way to screen newborn babies for SCID. Many times, these babies had recurring illness and SCID was not even considered until the 3rd or 4th hospitalization. Other times, the child was exposed to a virus that could not be treated by antibiotics and never became well enough to make it to the transplant stage.
Jacob had PCP pneumonia, which only attacks those with compromised immune systems. PCP could be treated with an antibiotic, so there was hope for him to get well enough to make it to the transplant stage. Jacob was transferred to another hospital and put in a reverse isolation room. No one would be allowed to be near Jacob for the next 10 months without a mask, gloves and a sterile gown, as we could not risk any exposure to additional bacteria or viruses. When his PCP became worse, Jacob was put on a ventilator. We were not able to hold him much because he was hooked up to so many different cords. Many days were touch and go. Jacob was transferred to another hospital for the bone marrow transplant. The days and weeks that followed the transplant were full of anxiety as we had no way of knowing how Jacob would respond. Finally, the Wednesday before my very first Mother’s Day, Jacob was discharged from the hospital.
Today, Jacob is a happy, healthy 2nd grader. He receives a monthly infusion of antibodies and has working cells from the transplant. By all accounts Jacob is considered a success story. Our journey with SCID was the scariest time of my life, but turned out with the best possible outcome. Not all SCID babies have this success. The recent addition of SCID to newborn screening will allow for immediate diagnosis and bone marrow transplants within the first few months of life for these babies. Newborn screening will lower the risk of illness before transplant and reduce the length of hospitalization for these babies and their families. Newborn screening for SCID will save lives.
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