Rachel was born with a hole in her heart. At 6 weeks of age, it was repaired and she was declared in good health. As she approached her first birthday, we noticed she wasn’t reaching milestones… crawling, sitting up, talking, walking etc. and we had her screened at All Children’s Hospital. She was diagnosed as developmentally delayed and soon physical, occupational and speech therapy began. Over the years we took Rachel to see many different specialists (neurologists, developmental pediatricians, speech therapists, genetics counselors, etc.) to learn what was causing her delays. We were told by a wonderful neurologist that she displayed characteristics of many different syndromes, but none of them ‘fit’ her exactly. When she was 11, we finally received the diagnosis of DiGeorge Syndrome. Rachel doesn’t have the typical presentation of other kids with this syndrome. I learned that many are small in stature, have serious health issues but are not always developmentally delayed. Rachel is tall for her age, weight is a bit high for her size and age and aside from some minor medical issues (even her heart defect was considered mild) she is healthy. Most of her issues are developmental. She is about four years behind her peers academically and socially. Rachel has her education needs met by wonderful teachers in self-contained classrooms. I spent the first year after her diagnosis frantically researching this syndrome. I took her for more medical tests, looked into having her screened at other medical institutions that specialize in 22q. Then it hit me. For us, nothing they could tell us is going to change anything. She is not in any danger medically and all the testing would do would cause her more stress than she needs. As she grows and we are faced with different issues, I’m sure we will continue our search for new answers, but for now, we are just enjoying the wonderful creation that she is. I wouldn’t have chosen to go down this road with my oldest child if I had the choice, but I can tell you so far,this has been an amazing journey.