Harper Ann’s was born 4 lbs 9 oz full term. Shortly after her birth, in the hospital, Harper’s metabolic test came back as abnormal. The first week of her life we were told she may not survive the year and she would probably have significantly impaired cognitive functioning and deficits in her global development. This diagnosis was devastating but little did we know the road that was ahead of our sweet baby. Within the first 6 months of life Harper Ann was diagnosed with ASD, pulmonic stenosis, GERD, chronic and persistent asthma and ear infections, enlarged and displaced liver and spleen, skeletal dysplacia and hypotonia which are all underlying medical issues caused by her “undiagnosed metabolic disorder”. This disorder is one of a group of storage diseases that attacks various organ and skeletal functions within the body. We were overwhelmingly grateful when our sweet baby bypassed her first year and beyond words now that she is about to celebrate her 3rd birthday this month. While we hurdled past some major life obstacles, the words of progressive and degenerative are always sitting in the back of our minds and hearts. However, we continue to pursue genetic testing and are currently undergoing an extensive test in an attempt to find her diagnosis. She is still being watched and has not been cleared for Bardet Biedl or Morquio Type B Syndromes. This forgein world of genetics coupled with the medical term “undiagnosed” offers few answers and many more questions, for Harper’s future. So we take time to celebrate the miracles performed, such as walking at 20 months old, this in itself was a milestone we thought we may never achieve, along with her first word spoken shortly after her 2nd birthday “eyes”. We found with every sucess a challenge has been overcome, her latest challenge being abnormal bone growth and development. This has affected her hip, leg and thigh long bones, causing joint pain and discomfort. Additionally, it also contributes to her difficulty achieving balance and stability, which is only exacerbated by an inner ear imbalance. Additionally, Harper has also been diagnosed deaf/hard of hearing due to these chronic ear infections which conventional ear tube surgery, performed twice, did not correct. While Harper Ann has continued to beat the odds and has not only exceeded the preliminary diagnose of mental impairment she has been tested to be on target if not above her peers in cognitive skills. To us Harper is “perfectly flawed.” We feel so blessed to have this sweet angel as our own and share our story and hope with those we meet.