“…Cyrus is tricking the doctors and what they “know” about his chromosome condition…”
Cyrus Eads, 10/22/2013, Partial Trisomy 4p/Monosomy 4, Clarksville, TN
Cyrus appeared to develop normally until about 28 weeks gestation, where a routine ultrasound showed excess amniotic fluid. A follow up ultrasound indicated a series of birth defects to include: enlarged and midline heart, bi-lobed liver (midline), very small stomach, fused and enlarged kidney, fused left hand, micrognathia, and enlarged inferior cava.
We were immediately referred to the Junior League Fetal Clinic at Vanderbilt Children’s Hospital, where I had weekly sonograms to determine growth and to monitor the heart defects. At 31 weeks, the polyhydramnios (excess fluid) got to a point where it was threatening pre-term labor and causing extreme discomfort, so they performed an amnioreduction to help prolong the pregnancy. We knew he would need some intervention at birth, and the doctors wanted to give him the best chances by keeping him in utero as long as possible. Within an hour of finishing that procedure, I went into preterm labor. They were able to stop it, but to be on the safe side they administered the steroids shots over the next two days so his lungs would have a chance to develop. That was on 9-30.
On October 22, I had an appointment with the pediatric cardiologist who was preparing to do surgery to correct the venous malformation they clearly saw on the sonogram somewhere in the vicinity of his liver. Later that day I had an appointment for another sonogram, but this time there was backflow into the placenta so they rushed me over to L&D. I had an emergency C-Section less than 30 minutes later (at 34 weeks) and Cyrus was born.
The first day was rough. I was anxious to see him (I’d only glimpsed a portion of his face as they whisked him away (he was in respiratory distress from the micrognathia). After meeting with the doctors, they confirmed the diagnoses from the sonograms and the ECG that were performed prenatally, and started to form a plan…only the next day the heart was showing signs of reducing in size. The day after that, when they brought in the head of the department to scan Cyrus’ abdomen for any venous malformation that would lead to the heart being enlarged, they discovered nothing wrong with his circulatory system at all. Another ECG showed nothing wrong with his heart other than it being the wrong shape and in the wrong spot.
As Cyrus got a little older the doctors concentrated on getting him fattened up and worked on him being able to breathe on his own. This was a challenge, as they soon discovered a sub-mucosal cleft. He had a nasal trumpet and vapotherm to help him, and he did really well with that. Cyrus had some trouble with his platelet counts and white blood cells, so he had a few blood transfusions.
As with most preemies, Cyrus had some trouble with his unconjugated bilirubin. The NICU team treated that with phototherapy, and it was successful…except that they noticed his conjugated bilirubin was not going down. When Cyrus was 3 weeks old, they performed a liver biopsy and a bone marrow biopsy (having exhausted all their options through blood, urine, and enzyme tests). The bone marrow biopsy results were optimistic, showing that his bone marrow appeared to be recovering from the trauma of being born prematurely. Thee liver biopsy results indicated biliary atresia, but they were conflicted because the liver was not acting like it had biliary atresia. The contrast study they did do before the biopsies indicated malrotated intestines, so they scheduled a repeat biopsy to occur during a routine surgery to fix the malrotation (called a LADD procedure). They also removed his appendix and installed a g tube to help with feeding (he was not tolerating oral feeds).
So far, Cyrus is tricking the doctors and what they “know” about his chromosome condition..so it’s all waiting and seeing from here on out!