I first met this beautiful, wide eyed girl on April 4th, 2015. Our eyes met, she smiled at me with her whole face and my heart melted. She arrived a month early, but weighed a healthy 6lbs 1oz, scored a 5/5 on the APGAR, and appeared healthy. The doctor decided to take her for a quick chest x-ray to make sure her lungs were clear of fluid, which is common for preemies, and I was to have her back in my arms for a breast feeding in an hour. She never came back to my room. The chest x-ray showed skeletal abnormalities that snowballed into a full work-up of bloodwork and x-rays. They drew so much blood they ran out of places to prick her hands and feet. Her information traveled up the Eastern Seaboard as doctors searched for answers. They sent us home without our beautiful baby girl and we waited in hope, while taking turns sleeping with her at the NICU. The doctors eventually let us take her home without a diagnosis, we were told she may have something no one has ever seen before, a wonder of God’s creation. I was just happy to finally have my girl home and was convinced they had never before seen true perfection. We had a follow-up appointment a month later with a doctor at Emory who specialized in metabolic disorders and genetic disorders of the skeleton. Just a year prior he had transferred to Atlanta from Medical Genetics Institute at Cedars-Sinai Medical Center and was one of few doctors familiar with i-cell. He reviewed her file, and after a quick physical examination, confidently provided the i-cell diagnosis. With our beautiful baby girl in arms we were told she wasn’t expected to make it through her first decade of life; she might never walk, crawl or sit up on her own. There is no treatment, but the doctors would do their best to make her comfortable. My full heart was suddenly so heavy that my chest could no longer hold it. It sank to the bottom of me and through the floor beneath my feet. I thought, this can’t be, not this beautiful baby-look at her, she’s perfect! The doctors and counselors stayed in the room with us and told us to take all the time we needed to digest the news before driving home. The diagnosis was later confirmed with bloodwork. While I cried a lifetime of tears, fate smiled knowing our baby girl’s a precious gift. I decided that being sad was unproductive; our time is too valuable and my family deserves better. I knew with lots of love and a little patience my little girl would find her own way. Every day since, she has continued to astound me. I’m told she’s fragile, but she’s the strongest person I’ve ever known. I’m told her life will be small, but she has a way of making life’s smallest moments big. She smiles in the face of danger and greets life with verve, grace and fortitude. I soak up each moment, try to memorize every detail of her and always hope for another day. I’m truly grateful for the immeasurable joy she brings to our lives. You’ve branded my soul sweet girl and I’ll love you always!
I am so excited to be participating in the YGF Annual 5K Charity Run/Walk for a Cure. Money raised from this event will be used to create a worldwide awareness of I-cell disease as well as to actively seek intellectual and monetary contributions to enhance research initiatives that would assist in improving the overall quality of life among children with I-cell disease.
Please help by sponsoring me.