Our Millie was born with minutes to spare before the end of March 1st 2019 during an unseasonable snowstorm in our corner of Washington State. We hadn’t found out our first child’s gender, opting instead to be surprised at birth. Little did we know we had plenty more surprises on the horizon with our rare girl!
Within days of Millie’s arrival my husband Gerrad and I had our first inklings something was not quite right. As brand new parents we initially tried to dismiss it as normal jitters but at her first pediatrician visit her doctor also expressed concern. Millie was extremely floppy (hypotonic/low muscle tone) and she was not putting on weight as she was having trouble latching or staying awake to feed. When she was awake she was inconsolably wailing. We were admitted to the hospital for ‘failure to thrive’ before our girl turned 1 week old. It all happened so fast and we really felt like we couldn’t quite catch a breath as we stumbled our way through this crash course in parenting! Our new little family called the hospital home for about 10 days and during that time many tests were ran (none of which giving us any answers) and we had our first glimpse into the world of therapists and specialists that would come to be such a huge part of Millie’s life. It was also there during that early experience that a pediatric hospitalist first mentioned a genetic syndrome could be causing some of Millie’s issues. She added that “Genetic testing is a rabbit hole and you may be looking a very long time.”
We named our daughter after Amelia Earhart because we admired her bravery, her sense of adventure and how she never liked to keep her feet on the ground for too long. It turns out our girl ended up embodying a very different aspect of the famed pilot that we did not expect; she was lost and we didn’t know where to even begin looking to find her. For 13 desperate months we relentlessly pursued answers and pushed further and further down that rabbit hole that was genetic testing where we knew our lost girl most likely was. We now know in the world of diagnostic odyssey’s this isn’t even considered long at all but at the time it felt like forever. In April 2020, during a global pandemic that brought the world to its knees and closed down operations at labs and universities everywhere, I sat on the phone with a genetic counselor at Seattle Children’s Hospital. She told me Amelia had a mutation on her NAA10 gene that neither my husband or I carried genetically and that our girl was officially diagnosed with Ogden Syndrome. She emailed me the 1 page she had on Ogden Syndrome and apologized as she explained they didn’t know any more. I got off that phone call feeling more lost than ever. Thankfully with some internet investigating we were able to find our patient organization rather quickly and that’s when we felt like the mystery that had consumed our lives for so long finally felt a little less mysterious.
Our rare disease journey as a family has at times been heartbreaking but also greatly transformative in many positive ways. I have found within myself a passion for science and genetics that I never knew I possessed that has completely changed the trajectory of my future career goals. Gerrad and I have both forged a strength and depth to our marriage that only comes with the shared experience of raising a medically complex child in the trenches together. The wonderful, caring people we have met along the way that we otherwise most likely would have never met has added a whole other level of humanity and compassion to our lives and has profoundly impacted us as parents and as individuals.
Our Amelia is now going on 2 and a half. She is such a happy, bubbly girl and she works so hard in therapy every week! Very different from the colicky, sleepy little baby she once was. She is growing and developing at her speed with the guidance of a very dedicated family and extended care team and in June 2021 she will be joined by her little brother co-pilot, Calvin, to help her navigate along the way as well. We can’t wait to see where this life takes her! We do know it will be a wild adventure regardless and we are committed to finding all the ways we can help our sweet girl soar!