First and foremost, Dr. Burne met with the leading geneticists at the hospital and they have diagnosed Carson with Apert’s Syndrome. It is a craniofacial and limb genetic disorder. Carson’s face, head, and hands are displaying the characteristics of the syndrome (protruding forehead, fused cranial sutures, fused fingers and toes). The geneticist is going to meet with Steve and Heather soon to talk about the long term implications of this diagnosis. They have also sent away genetic material to test to see if there are any other anomalies that are present.
They did an echocardiogram on Carson’s heart and only found one small anomaly that they are not worried about. They said it should resolve itself. They did an ultrasound of his head and his kidneys to check for other defects. They sent those scans to the radiologist and said they will get back to Steve and Heather.
Carson has some sort of defect in his airway that initially prevented the doctors from intubation; running a tube down into his lungs to help him breathe. They will perform a scope of his throat on Monday when they work on the omphalocele, to see what needs to be done to fix the blockage. Carson also has choanal atresia, a complete blockage of his nasal airway. They will be looking at that during the surgery to see how to fix it later on.
Carson’s omphalocele is actually doing quite well. The doctor doesn’t think that they can repair it with one surgery, but they have high hopes of it getting repaired in a few surgeries. It already looks smaller and around 10% of it has returned to his abdomen.
The good news is that he is doing really well despite all that is going on with him. His oxygen levels are good, his heart beat and blood pressure are good, and they are happy with his lung function. He is breathing on his own, but sometimes gets assistance from the ventilator tube.
Keep Praying :)
Love,
Dawn
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