Jul 08, 2020
Prenatally the participant was diagnosed with dilated loops of his bowel with a diffusely thickened wall. Prenatal testing for infections (toxoplasmosis, cytomegalovirus) and cystic fibrosis was negative. During the first week of his life, the participant underwent surgery (exploratory laparotomy) to examine his organs and he was found to have a meconium pseudocyst and hole in his bowel (bowel perforation) as well as an atresia in the terminal ilium. He proceeded to undergo a partial resection of his small bowel and large bowel. At 1 month, he was diagnosed with blocked bile ducts (biliary atresia) after having pale (acholic) stools and high bilirubin levels (hyperbilirubinemia). He underwent a Kasai procedure to correct this. At 3 months, he underwent another exploratory laparotomy with lysis of adhesions. At 7 months he underwent another exploratory laparotomy with a revision of his Kasai procedure.
At age 1 and 10 months the participant suffered from an ischemic stroke. The cause of his stroke has not been identified. At age 2, he was diagnosed with hypertension. At age 2.5, he underwent a liver transplant. At age 3 he was diagnosed with hypoglycemia and fatty liver. At age 4 he was diagnosed with pancreatic insufficiency.
If this participant sounds like you or someone you know, please contact us!
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