Warrior Wednesday

Charlie, 2yrd old

D-TGA-IVS 1q42.11 microdeletion syndrome

Throughout my pregnancy everything seemed quite normal, we knew Charlie was measuring small so we had extra ultrasounds. We even had 2 anatomy scans. Charlie was born a week before Christmas and was a late preemie, 5 weeks early. He was born in the ambulance on route to the hospital and was very very blue at birth. I didn’t get photos because it was just me in the ambulance. Paramedics rushed him to the nearest hospital although it wasn’t a birthing center and he was intubated almost immediately. A team from McMaster came to look at him and got him ready for transfer and he was started on PEG. I was left behind and given a booklet to read not knowing what was going on. I was transferred a few hours later and when my son was 16hrs old after lots of begging I finally got to see him… But it wasn’t what I had expected and no one warned me. He looked so rough I didn’t think he would make it. This is when I learned of his diagnosis and that they failed the BAS to open up his ASD 3 times. They were getting him ready for transfer and got me to take photos of him although I didn’t want to because they said “it could be the last time you see him alive”. At around 1 am I called sickkids as told by a nurse that I could to check on him and they were able to do the BAS successfully on the second attempt! We waited for Charlie to grow before his big surgery. The wait was complicated by hypoglycemia and collapsed veins making IV access difficult (to this day). At 3 weeks old the surgeon spoke to me and told me we couldn’t wait for him to grow any longer as his heart would completely loose function. I was told his surgery would be 5-6hrs but as time passed way beyond this point I knew something wasn’t right. The surgical waiting room cleared out completely and when the surgeon finally came to speak to me 11hrs after surgery I was the last one there. Charlie had troubles coming off bypass and went into complete heart block, he had a bleeding disorder and his blood was not clotting. There was a lot of swelling so they left his chest open. I called in to see my little guy half hour after he was transferred to the CCCU and was told there was an emergency, I thought nothing of it as there were 4 babies in the room.. until I heard code blue and seen his team rush in I knew it was him. He had suffered an 8 minute cardiac arrest, they did CPR directly onto his heart and reexplored his chest. I finally seen him 12hr 30mins after. That night was rough and he needed a significant increase of vasoactive support during the night, believing he was close he went into the Cath lab, telling me he was still very sick. Ecmo team was on standby in the Cath lab. Thankfully they didn’t find anything and he got better with steroids added to his therapy. He had his chest closed 3 days post op and on the 4th day we learned he had chylothorax. On the 6th day the pacemaker was shut of and later removed. 10 days after the drain tube was removed, before discharge they told me he had bleeding on his brain and to expect a 60% chance of a learning disability and speech delay. He is about to turn 2 and we have had quite the journey, from being diagnosed failure to thrive to being misdiagnosed with epilepsy revealing his chromosome deletion syndrome. He is predisposed to seizures, he may have DEE but even more likely he may suffer from hypomyelinating leukodystrophy 18 which is looking like he is starting to have symptoms of already. On his first MRI he had a defuse of white matter in the brain. We will be doing further testing to know for sure so please keep this boy in your thoughts ❤️💙

Charging the Storm

He has overcome so many obstacles and beat the odds! We are currently in the midst of testing whether he has any of 2 severe neurological disorders that genes in his deletion are responsible for. One that is on a full deletion being fatal. But I believe he will beat these odds as well. He is such a strong boy and everyone he meets instantly love him!

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