February 20, 2012...a day David and I will never forget.
It was the day we received Ellie's diagnosis of Prader-Willi syndrome. As I write this, the feelings David and I experienced that day rush over me.
Sadness, fear, emotion, anger.
Peace and Relief.
We were sad for our precious daughter, sad for us, sad for our life, sad that our world as we knew it had completely changed. We had such fear...fear of how this would impact our family, fear of how others would respond, fear of how others would treat our family, fear of how we would cope, and fear of the future. Our emotions were all over the place. We had experienced the joy and miracle of birth and got to meet our beautiful daughter. Yet, we had spent a month in the neonatal intensive care unit with her, terrified of what doctors would tell us next. To describe it as a roller coaster, is very accurate. The excitement, anticipation, sheer terror, exhilaration, cautions, ups, downs, corkscrews, bumps, and abrupt stops were all there. We have never cried more, celebrated more, prayed more, nor relied more on each other than in those days since Ellie's birth and diagnosis. And to be honest, I was angry. Angry that this precious child would have to suffer a cruel genetic disorder, angry that our "perfect" family was not so perfect anymore. Angry at myself for focusing so much on trivial things like getting the best stroller, cutest clothes, painting the room the perfect shade of pink. Angry that I was completely and utterly not in control of this situation.
But there was extreme peace and relief upon receiving Ellie's diagnosis. I can remember getting the call from the geneticist and feeling my shoulders relax and letting out a deep breath. When I told David, I could see him do the exact same thing. We had an answer. We could move forward as a family and embrace our new "normal." Peace is an amazing thing, and I'm convinced God provides it, to show us He is with us no matter the circumstance. I remember David looking at me, hugging me, and saying, "Everything is going to be okay, the Lord has a plan." I have clung to those words and they brought me peace. In that moment I truly believe we made the decision (regardless of whether or not we voiced it to one another) to move forward and focus on Ellie's strengths and abilities, not her disabilities.
Diagnosis is a word that changes everything. Anyone that has every received a diagnosis of any kind can remember exactly where they were, how they felt, and what their plan moving forward would be when they received it. I am thankful to have a diagnosis as odd as that might sound, because although we may have sadness, fear, emotion, and anger...we have relief and peace. Some families and individuals struggle everyday not knowing what is wrong, and not getting the help they need.
Ellie has a diagnosis of PWS, but she is not PWS.
