Today, July 12, 2010, is a happy day. Why? After several months of waiting, we finally got the results for an important genetic test on Evan. We were referred to the genetics department at Children’s to figure out whether Evan’s failure to grow and other health issues were a result of a genetic disorder. This particular test was the one a genetic doctor recommended after a lot of other genetic tests had eliminated over a hundred other genetic disorders. The results for this last test were a long time coming as we were initially told that we’d get the results in approximately 21 days, and that was almost three months ago. So after months of waiting, we were grateful to find out today that the test for “Opitz G/BBB Syndrome” came back negative!!!
So what is “Opitz G/BBB Syndrome?” I know I shouldn’t have looked it up back when it was first mentioned, but I did. Doing so, I freaked myself out before we even knew whether Evan had it or not, but curiosity got the best of me. Here’s a brief summary from the Genetic Home Reference website: “Opitz G/BBB syndrome is a genetic condition that affects several structures along the midline of the body. The most common features of this condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia); and in males, the urethra opening on the underside of the penis (hypospadias). Mild intellectual disability occurs in fewer than 50% of people with Opitz G/BBB syndrome, most likely caused by structural defects in the brain.”
We adore our son, genetic disorder diagnosis or not, but are so thankful that this test came back normal. Whohoo!