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” Manuela is our little miracle!”
Manuela Thiago, Mosaic Trisomy 13 and Monosomy X, 9/18/2012, Rio De Janeiro, Brazil
Manuela was born on September 18, 2012 by cesarean section at 38 weeks. During pregnancy I had high blood pressure and took medication to control blood pressure. No genetic problem was seen in pregnancy, the baby was fine. Nothing was seen at birth. With 10 days I was born the pediatrician who diagnosed intraventricular communication – IVC. There was also a communication intratrial, severe icterius, low weight and height, abdominal pain, gas, cyanosis when crying, allergy to cow’s milk, tracheomalacia. Manuela cried day and night, not sucking right ached unknown. Gastritis was diagnosed with severe reflux and treated with medications. Up to three months moved little arms and legs, no oral sounds, not paying attention to anything, she stood like a doll. Presented recurrent cystitis and urinary reflux. Sustained the neck only between 5 and 6 months. Had hypotonia generally not held the trunk to six months beyond the strabismus. My husband and I we expected the worst for her. At 7 months everything started to change. The IVC closed almost complete, reflux decreased, gained weight, moved much more body. At 8 months, sat without support and started motor physiotherapy. At the moment we received the news of genotype: trisomy 13 and monosomy X, mosaic. In two months of intense stimulation at home and in therapy, she is crawling. Hypotonia decreased, dance, jumps, speaks some sounds, stands. Remains below the height. Not taking medicines as before. Today we are sure that God has blessed and Manuela is developing very well. It has signs of trisomy would be much more serious. She has sacral dimple, hemangioma spine, cleft palate scar that closed within the uterus. Tomography has small area of the brain affected. If this were vascular injury mm back she would not move her legs and arms. Manuela is our little miracle!