Sep 21, 2017 Latest post:
Jul 11, 2019
Jake is our cute 9 year old who has always made our life more interesting. We are both sad and grateful to be starting a Caring Bridge site for him. Sad to know that he is so very sick; grateful that he is still with us. On Wednesday, September 6, Jake woke with a temp and vomiting. By Thursday, September 7, that had become too much sleeping, shallow breathing, and a slight cough. We brought him in to Children's Hospital Boston Thursday night where he was diagnosed with pneumonia, given some oxygen support and placed on the step-down unit. Friday morning things spun out of control as Jake developed swelling and a deep purple rash on his face that continued to spread across his face. Doctors were worried it would spread to his throat and block his airway, so he was moved to the ICU. Within less than 6 hours his face had ballooned and turned deep purple, and he was unrecognizable. Team after team came to see him, all puzzled as to what was happening, as no one had seen such a presentation before. Jake was sedated, intubated and taken for an MRI which did not answer the puzzling question of what was happening to him. By Saturday morning, he was in renal failure and headed towards liver failure. We feared multiple systems failure, which we know from our CDG community can lead to death. Jake was put on dialysis. The medical team explained their goal was twofold: to stabilize Jake's body while at the same time figure out what was going on. Still not entirely clear as to the source of his symptoms, on Sunday they started him on two courses of treatment hoping that one of them would prove to be the correct course. They spoke to us very clearly about the risky side effects, and we knew that there was a chance he would not make it. By Monday, Jake's condition had begun to stabilize. His liver counts were not worse, the dialysis was doing the work of the kidneys, and his rash/swelling was not getting worse. It now turns out that they believe one course of treatment was the correct course: treating him for DIC (disseminating intravascular coagulation.) It appears that his pneumonia threw his clotting factors out of whack (clotting is an issue for kids with CDG), and they found tons and tons of little blood clots in the small blood vessels in his face. His kidneys shut down either due to the clotting factors or to the pneumonia. After three days of being stable and not worse, and even showing slight improvements, the medical team believed they had put Jake on the right path towards healing. Jake is not yet out of the woods, and it will be a long path, but we are hopeful. As one friend put it "The hurricane has come and gone; now you have to clean up the mess." There is quite a lot of 'mess' to clean up. We are humbled by and very grateful for the support we have received from our community. We will use this Caring Bridge site to update folks on Jake's progress.