Babies or children may exhibit some or all of these symptoms, but severe infections, whether in the bloodstream or lungs, like pneumonia, are most common. These include general failure to thrive, frequent ear and/or sinus infections, infections that don’t improve with medicine, persistent skin rashes and/or infections, diarrhea, and yeast infections. SCID cases are more frequently diagnosed in the Navajo, Amish and Mennonite communities. The advent and implementation of newborn screening have increased the prevalence to approximately one in 58,000 children diagnosed each year. While SCID was previously thought to affect approximately one in 100,000 in the US. 1. Better Screening Protocols Allow for Earlier and More Diagnoses Advertisementįor those interested in SCID, here are five more facts you should know. SCID-ADA is the second most prevalent type of SCID, identified in approximately 15 percent of cases. X-linked SCID (primarily affecting boys), is the most common form, representing about 40 percent of SCID cases. Currently, there are at least 13 different types of identified SCID, with various “unknown” types still being discovered. Within the past 30 years or so, particularly for X-linked and SCID-ADA, an enormous amount of progress has been made in attempting to identify, research and treat this rare syndrome. I am forever indebted to my parents for being willing to take part in what was probably the most experimental and controversial clinical trial at the time, while still caring for two other kids with physical disabilities, and the doctors who chose to invest in rare disease research. I was able to receive enzyme replacement therapy for SCID-ADA, which kept me alive until I took part in the first gene therapy trial in the world, at 4 years of age, in 1990, at the National Institutes of Health. To parents reading this: I’m even luckier than I previously admitted.
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