When my youngest daughter was 1 month old, she stopped breathing, responding to any outside stimuli and turned blue. We called 911 and were transported to Children's Hospital. What we initially thought was going to be a one-night observation for a BRUE episode turned into a five-night stay and a turning point in our lives. Our daughter had another episode while we were there, and we were able to see her oxygen desat into the 50's. Further testing was then decided upon. After an EEG due to the presentation of the episode, we found out our daughter had 2 seizures within the first 30 minutes. After an MRI, we were told she likely had a focal cortical dysplasia in her left frontal lobe - we will be getting a follow-up MRI at the end of April to confirm this. They decided to do a swallow study as well since a few of these episodes happened around feeding, and we coincidentally found out she was also aspirating during feeds and aspirated on all thicknesses they tried during the test. They decided an NG tube was best for the time being. We did genetic testing as well and later found out she has a VUS (variant of unknown significance) in her COL4A1 gene - her report now says this gene is likely pathological, which would categorize this genetic difference under Gould Syndrome. She's also been diagnosed with asthma. Over the course of this time, we've worked closely with neurology and the feeding team and we've seen a laundry list of other specialists - nephrology, pulmonology, ophthalmology, ENT and genetics. We will continue to see all of them throughout her childhood. We've had a few inpatient stays as well - some related to her conditions and another due to severe illness, including a short PICU stay. While this has been a scary experience, we've been so thankful to have great medical care behind us. 

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