The morning of her birth, we felt excited to meet our newest addition. Would it be a boy or girl? Who would he or she look like? We had plans. We would reveal the gender to our family while recording video, just like we did with our older daughter. I would come home just a couple of days later and place our new baby in the beautiful cradle that we bought for him or her that was right next to my bed side. You know it’s silly to make plans though, because as they say, the best laid plans …
As soon as she was born it was evident to both my husband and I that something was wrong. Things just didn’t seem right. We never got to take that video of the gender reveal because our heads were clouded by the fact that our beautiful baby girl wasn’t crying, or eating, or seeming to have any interest in bonding with me.
We heard many things from different doctors in the coming days. She may not live. Her brain may not grow. She may have very low cognitive functioning. We heard the names of many, many disorders that she may or may not have. They all shook me to the bone. We didn’t know really what to pray for. Which would be the best case scenario. So we prayed that whatever this may be, let it be something that we could fix.
Days went on and Ella seemed to get better – she could finally eat on her own, she needed less assistance breathing, she became able to maintain her body temperature. 3 weeks later, we still had no answer, but we were sent home hopeful.
On June 18, 2012 we received a phone call from our geneticist, saying that Ella did, in fact, have Prader-Willi Syndrome. The diagnosis felt like a dagger to the heart. Here she was improving, and I thought my prayers were being answered. She was getting better. We could fix this.
My husband and I cried together. We hugged and shared our worries, and darkest fears. And then we made a decision. We decided that we would not allow that diagnosis define our daughter. We would provide her with the very same opportunities that we provided our oldest with. Were would support her in whatever she needed. Most importantly, we would work hard in funding research that could potentially better her life.
We made that decision and we never looked back. The days may get hard, but we have HOPE. I know that someday, Ella will live an independent life. I know that as long as we don’t lay down, we can, in fact, fix this.