Skip to main content


Showing posts from September, 2019

on a new journey

Yesterday I had a blissful moment where everything seemed perfect and I almost forgot the large envelope that waited for me on the kitchen counter. I grasped at that moment, trying to forget the possibilities and uncertainties and predictions the envelope would release. Fleeting are perfect moments like that one -- I'll savor them while I can and will myself to open the envelope when I'm feeling stronger. For now, I'll describe what that (still unopened) envelope contains. I got the call just over a week ago. A geneticist told me that my daughter's genetic testing had resulted in a diagnosis of  Wiedemann-Steiner Syndrome  or WSS. Today is the annual awareness day for WSS so it's fitting to begin opening up about this journey we've just begun. My initial reaction to that call was gratitude that we had an "answer," that we'd stuck with this prolonged and confusing process towards diagnosis, that so many of my daughter's symptoms now had a name