![]() It’s exactly the kind of condition the newborn screening program is meant for: fatal without early detection, treatable with it.īut to appreciate the immense challenge of effectively screening for SCID, we need to look a little at the mathematics of screening for rare diseases. If it is identified early enough, though, there are now treatment options that give babies an 80 percent to 95 percent chance of survival. If SCID isn’t identified, babies who have it will typically die of an infection within the first year of life. This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.įor more newsletters, check out our newsletters page. SCID can be inherited, but it is often the result of a genetic mutation, and it affects about 1 in 58,000 babies.īy submitting your email, you agree to our Terms and Privacy Notice. (Most states have a similar system, but the exact details of testing vary by state.) One of those is SCID, or severe combined immunodeficiency, which you may have heard of as “bubble boy” disease. ![]() There, that spot of dried blood is tested for more than 80 serious but treatable genetic disorders. ![]() When a baby is born in California, where my family lives, nurses take a tiny blood sample from a foot prick and send it on to a lab. The extraordinary balancing act of screening for rare diseases It’s one of our health care system’s most impressive accomplishments, and something parents usually never have to think about - unless something goes terribly wrong. But for an anxious new parent, two weeks is a very long time, and while we waited for an answer, I spent a lot of time learning more than you’d ever want to know about the US newborn screening program. I don’t want to keep you in suspense: The retest two weeks later learned that it was indeed a false positive, and she was totally fine. While every doctor assured us that the test was very likely a false positive, they wanted us to avoid giving her live virus vaccinations while we waited for a retest. ![]() It turns out her initial test indicated that she had practically no T cells, a key part of the immune system. Four days after our daughter was born this October, we got a call from the hospital - they wanted us to take her back in right away to rerun one of the newborn screening tests. ![]()
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