There are days that we remember so vividly, that we can recall what we were wearing, what the weather was like and even what we ate that day…. For me the day our child was diagnosed with Prader-Willi Syndrome is one of those days.
March 10, 2011- My brother, Keith, was visiting from California to celebrate Siena’s first birthday which was two days away. He was going to help me paint the living room (as I have a knack for deciding to paint right before lots of people will be at my house AND for roping people into helping me do it…) He had to run out for a minute to pick up keys he had left at a hot yoga class HE had roped ME into doing the night before. In the 40 minutes he was gone, life as I knew it would forever be changed. About 10 minutes after he left the phone rang, I answered, it was the geneticist who had seen Siena the week before. The blood tests were back from her methylation test. Siena tested positive for Prader-Willi Syndrome he informed me and offered to see us as soon as we could make it in to the hospital to answer questions (which we did the next morning). I have to admit that for a brief moment I felt a slight relief, after a year of searching, finally we had an answer… And then when that moment ended, a million new questions and unknowns came flooding in. I will never forget calling my husband at work to tell him the news. Before this day I had never heard of Uni Parental Disomy, never experienced a sleep study, never fathomed I could give my child a shot every day, never dreamed I would be writing this blog. It was a day that I mourned the loss of all the dreams I had for my child. It was the day I told myself, “we will never be normal again.”
March 12, 2014 – As we prepare to celebrate Siena’s 4th Birthday, I look back on that day and am filled with pride. Proud of how far we have come as a family, proud to have such a supportive network of family and friends and insanely proud of my sweet, sweet Siena. She has come so far and makes our hearts smile every day. She is an adoring little sister, looking up to big sister, Isla, and she is a caring and nurturing big sister to little Lucca. She is so brave through her sleep studies, her blood tests and nightly shots. Siena faces many daily challenges and we do not know what the future has in store, but we do know for certain that her “fan club” will be there with her every step of the way. Today our dreams for our child are larger than life. Today this is OUR normal.
Happy Birthday to our Sweetest Siena! Xoxo
There is no such thing as normal, it is a fiction that we tell ourselves to differentiate. Siena may not be like a lot of other people, neither am I, but that is her “normal” and I accept it. As Jamie said all those things about what I never expected from life also, I still am in awe of the strength of that little girl, how good her overall disposition is, how much I love her and I will do anything to help her, ANYTHING because she has earned it. HAPPY BIRTHDAY SWEETHEART!
Also that picture expose that was done showed both her inner and outer beauty, those pictures really showed her essence.
Jamie, you have such a way with words. You have captured what we are all feeling. Siena is the light of our lives, along with her sisters. We cannot imagine them not in our lives. As we go along this journey with her, we are amazed by her “spunk” and love for life. We have learned a lot from her. We are so blessed! Happy Birthday, Sweet Siena!
Happy birthday to your sweet Siena. You have drawn such a picture of the day your lives changed, I felt your “normalcy” getting kicked to the curb. When my Katie was Siena’s age, I craved information on older “girls” with PWS, so if you have that same craving you can read this fun tidbit about an older girl.