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1/9/2017 Latest post:
Welcome to our CaringBridge website. We are using it to keep family and friends updated in one place. We appreciate your support and words of hope and encouragement. Thank you for visiting.
Noah was born via by c-section on December 5, 2016 it was a planned c-section because he was breech. We were excited to welcome our son to the world, there was no expectation that the day would end any differently than a smooth delivery and ultimately with our son in our arms with family surrounding us happily. Immediately upon Noah's entrance to the world, we knew something was wrong, the tone in the room became more serious as they told us Noah was not breathing, that they were performing CPR and a code blue was called, Noah was intubated. I will never forget the look in Joe's eyes in that moment, we were both afraid. Joe and I were scared, little did we know that this would be the first of many devastating moments we would share as we try to learn what was happening to our son.
By Noah's ninth day of life, he had been to three hospitals and ridden on two ambulances. But we made our final NICU stop at the University of Minnesota Masonic Children's hospital.
After extensive testing and waiting for results, Noah had a diagnosis, one short month after his birth (January 6) we were told that our son has x-linked myotubular myopathy, an extremely rare genetic condition that affects (almost exclusively) males and presents with low muscle tone, respiratory issues, and other health problems. In addition to that, it presented us with every parents worst nightmare, probably death. We were told most children will die before their second birthday from this condition.
This is the story of our family, as we take on life one day at a time. We join a small community in this space, and of course we have our village of friends and family (most likely you are one of them) who have been nothing short of a miracle throughout this whole thing. Joe and I love Noah, more than anything in the world, we have so many hopes and wishes for him.
We have not taken Noah's diagnosis sitting down, the day we learned of the condition, Joe was on the phone with Harvard because of research happening there, we looked up information about clinical trials, and we starting tracking down the resources we would need to move forward. And what we found was hope for a cure. There have been clinical trials on dogs that have been successful in curing this disease and we learned that trials with humans will be starting soon, we have asked to be considered to be part of one happening this year in Toronto. The research on dogs shows that the treatment completely cured the dogs of the condition, and because this is a large animal model, it gives real hope that this will translate for humans. Joe and I are aware of the worst case scenario we are facing here, but living in the doom in gloom will not work for us, we are choosing to fight and to believe our son will have a chance to experience life free of this disease, and hopefully someday soon. Our job until then is to keep Noah alive and as strong as possible.