Human beings are such incredibly complex systems. Even with modern science and education, most of us know only a summary of how many of these systems such as genetics and hormones work. That is, until something changes in your life making it suddenly quite relevant to you. That’s how it was for our family a few months ago when our second child was born. It was a difficult birth but additional challenges became apparent after she was born. She had difficulty keeping her temperature up on her own and needed a warming bed for a few days. Her breathing wasn’t quite strong enough and she needed oxygen for a few weeks to keep her levels up. She struggled with feeding by mouth and switched to eating primarily by feeding tube. At first the medical staff thought her hypotonia or low muscle tone may be due to the difficult birth and she would catch up quickly. When that didn’t happen we kept testing for new things and checking them off the list. Nothing came up in her initial genetic screening because her syndrome requires additional specialized genetic tests to determine. We waited for the results for two more weeks in the NICU before we finally had a confirmed diagnosis. It seemed like an eternity to us but we are grateful for getting the diagnosis as soon as we did because it means we can start treatment for her from a very early age. There is a wide range of potential outcomes for people with this syndrome.