We just found out a few days ago after waiting over 2 months for the results that Auggie has Noonan Syndrome (NS). We don't know yet which gene it is that is causing it as there are 11 different possibilities, but we will meet with the genetics team later in September after his surgery to find out more. We are not surprised as we suspected it all along - my husband an I were actually the ones who requested that the test be done as our research showed too many similarities between Auggie's symptoms and other people with NS, specifically valvar pulmonary stenosis, bleeding disorder, easy bruising, developmental delays, growth problems, and specific facial features.
Our genetic counselor asked me how it felt to have this answer and I must say that it is a relief to know which condition he has so that he can get the help he needs and we can communicate his needs to others better, but he is still just our fun-loving Auggie-doggie!!
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