Nicholas B.
Trisomy 16q+ Inversion
Our second pregnancy seemed to be going well. I felt great, the baby was active, and friends were envious of how little I was. At 33 weeks my doctor said I was measuring pretty small, but did not seem alarmed. My next visit was at 35 weeks, and there was no real measurable growth of my tummy or any weight gain. We did a sonogram, which showed IUGR (growth restriction) and a two-vessel umbilical cord. I was referred to a specialist for a level II sonogram. The IUGR and two-vessel cord were confirmed, and there appeared to be a problem with the baby's heart. We had a fetal echocardiogram, which showed a VSD, and indication that there might also be a coarctation of the aorta. The pediatric cardiologist was very encouraging; these cardiac defects could be corrected. The coarctation repair would be done in the first week of life. Back to the perinatologist for another sonogram, we decided to take one unknown out of the picture and find out the gender of our child, we were having another boy!
When the doctors wanted to admit me to the hospital immediately, we begged to be allowed to go home that night. The next day was Thanksgiving, and we were hosting the family at our house. They agreed after a non-stress test showed the baby was doing fine. Our family arrived that afternoon, we re-acquainted our 2-year-old with his grandparents and arranged for my brother to host Thanksgiving dinner. The next morning I was admitted. The plan was to do an amniocentesis on Monday and hopefully deliver the baby on Friday.
After a long weekend in the hospital, my amnio was delayed until Tuesday. At the doctors' suggestion we authorized a FSH test along with lung maturity testing. Nicholas' lungs were not ready yet, so the delivery was delayed, another amnio would be done in 10 days. Preliminary genetics testing ruled out any chromosomal abnormalities. The second amnio still did not indicate lung maturity, and revealed that Nicholas had not grown appreciably during my hospital stay. He needed to be delivered before the uterine environment deteriorated any further. On Friday, December 10th, Nicholas was delivered via c-section to an audience including several neo-natal specialists and a respiratory therapist. He cried before he was completely extracted, and we all breathed a sigh of relief that his lungs seemed okay. I got a quick peek at our tiny little boy before he was whisked off to the NICU for an echocardiogram.
Later that day we learned the more detailed genetics testing had revealed an "unusual arrangement" of the long arm of chromosome 16. We both had blood drawn on Monday to determine if either of us had a similar "re-arrangement". By this time the cytogeneticist had communicated that Nicholas had an inversion and partial duplication in the long arm of chromosome 16, and neither of our tests revealed any anomaly. We met with the geneticist, who could offer us no real information about this anomaly. She had been unable to find any reported cases of similar anomalies, and could not tell us what to expect. This was one of the most helpless feelings we ever experienced. We had a beautiful baby boy with cardiac defects that could be easily repaired, but no idea what other problems he might experience. He was to have the coarctation repair as soon as the PDA closed, and we would monitor the VSD and ASD over the next 2 years.
Nicholas did well in the NICU; he was breathing on his own, with a little extra oxygen administered to keep his oxygen saturation at the right levels. Digoxin was required periodically to keep his lungs from getting too wet. Otherwise, he was gaining weight, was tolerating breast milk through a feeding tube, and appeared robust. When Nicholas was eight days old, on Saturday the 18th, he had surgery to repair the coarctation of the aorta and ligate the PDA. Surgery was successful and he was transferred to the PICU. He was expected to be extubated after 48 hours and then transferred to the floor soon after that. Nicholas was recovering from the surgery well; the echos showed that his heart repair looked good. On Monday he was weaned from the ventilator, but had to be re-intubated after a few hours. On Tuesday he experienced hypotension when his dobutamine drip was changed. He was stabilized, but the doctors were concerned that he did not appear very robust. We received a phone call at 4:00am, Nicholas had deteriorated during the night and was gravely ill. When we arrived at the hospital we saw that he was lethargic, slightly jaundiced, his pupils were fixed and dilated. The doctors said that his kidneys and liver were not functioning. By 6:00 the doctor told us that Nicholas would not live, his system was not metabolizing waste enzymes and was becoming acidic, he was poisoning himself. We had to make a choice, take him off the life support, or wait until he went into cardiac arrest. She assured us that he had not felt any pain.
Nicholas was taken off the machines and we held him for the only time in his short life. He died peacefully in my arms that morning. His doctors and nurses cried with us, it had been so unexpected. When we discovered DOC16 we felt like Nicholas' angel had been looking over us. Some of the helplessness of not knowing anything about his chromosomal disorder was gone. We still don't know what caused Nicholas' condition, and the symptoms that led to his death, but we hope that by sharing our story and experience, and supporting genetic research, some other family will not have to experience the awful helplessness we felt.