Uniparental Disomy (UPD)
I was on my 4th ART cycle, and my second IVF cycle, when I became pregnant at the age of 38. Knowing the miscarriage rate and rate for genetic problems for my age, I kept my optimism and excitement to a minimum, waiting until we got our CVS results back to spread the news.
We got the preliminary results and I was estatic for all of one week. Then the final results came back: Trisomy 16 in 100% of cells cultured. What the heck did that mean? I got the results at work, toward the end of the day, and started googling. My heart lept to my throat, and pretty much stayed there for 24 months.
Fortunately, I found this group and the stories I read made me and my husband decide that we could deal with whatever MT16 dealt us, that we'd worked too hard and gone through too much to terminate with so little concrete information about how the baby would develop.
It was not a good pregnancy. I felt absolutely horrible, probably from a mixture of nerves and the very early stages of pre-eclampsia. I started seeing one of the leading perinatologists in the country, who was fascinated by our case and had never seen one like it in his entire career. I got growth scans about every 2 to 3 weeks. I was put on baby aspirin. Around the 16th week the baby's growth was behind by one week, but no deformities could be detected. And that's pretty much how the pregnancy progressed for 11 weeks. The amnio showed no T16 cells, so it looked like it was confined to the placenta. Our perinatologist decided we should do further testing, and obtained blood from my husband and myself. The diagnosis came back: the baby had a normal chromosome count, but both of his 16 chromosomes were mine. He had Uniparental Disomy. There were only about 40 cases of it in all of medical literature, so while it looked better than mosaicism, there was still a lot of mystery. I started holding fluid around week 18 and was told by the perinatologist around week 24 that I should try to take it as easy as I could: minimal exercise and lay on my side as much as possible. A urine collection test at week 26 came out negative, so I wasn't pre-eclampsic - yet.
Week 27, I woke up from a deep sleep and was alarmed that I hadn't gone to the bathroom in 7 hours! I got up from the bed and immediately felt a gush - my water breaking - but I was in denial about it. I had a doctor's appointment that afternoon, and waited to talk to her about it.
When I got to the doctor's, my blood pressure was 140/90. She calmly took off the cuff and looked me straight in the eye: "I would feel a lot better if you got in your car and drove yourself straight to the hospital for monitoring." So off I went. And when I arrived there, my bp was 170/95. The baby's heart rate was perfect, though. And to paraphrase Harper Lee, "Thus began our longest journey together."
I was put on hospitalized bedrest immediately, given the first of two steroid shots, and tested positive for sac rupture. A scan showed that I had almost 0 amniotic fluid. And I really started to swell. Over the course of 5 days I blew up like a balloon. The baby got coy and sometimes wouldn't show up for his fetal monitoring, but when the nurses managed to get him on the monitor, his heartbeat remained surprisingly strong. But he wasn't growing - he was stalled at the size of a 25 weeker. A second urine collection showed significant markers for pre-eclampsia, and the morning the results came back, I was just at 28 weeks. The doctors decided it was time to get the baby - he was doing great, but my kidneys were shutting down and my brain was swelling.
We were told that he wouldn't cry at delivery, and warned about all the potential problems a preemie could have, in addition to the "unknowns" about UPD 16, but to our surprise (and the NICU doctor's) he let out a mosquito cry when his cord was cut and was able to breath on his own (though he was put on assistance so he wouldn't wear himself out and could devote more of his energy to growing).
Thomas spent 11 weeks in the NICU. It was oddly reassuring: at least he was where he could be monitored and the nurses and doctors were fabulous. But it wasn't an experience that I'd wish on anyone: I had to approve a spinal tap for him at 33 weeks because he'd suddenly developed an infection and the doctors were worried it was NEC - a quick moving, potentially lethal condition for preemies. He also lagged behind, so behind, on his growth - he was only 1 pound, 11oz at birth. And yet, he was feisty.
He came home a week before his original due date, on an apnea monitor that we quickly grew to loathe, and about 3 different medicines. And he had a hernia that presented itself the day before discharge, a hernia that couldn't be repaired until he was 7 pounds... 2 pounds away from his discharge weight, and requiring 2 trips to the ER to push the intestine back into his abdomen until we could have it repaired at 7 weeks adjusted.
And then - he settled down. And grew. And basically became a real baby. Though he lagged behind in height and weight, he hit all his milestones at the right times. He did require physical therapy since his neck was stiff on one side (a common problem in preemies - it's from favoring one side in the NICU), but we were amazed at how well he did. At a year, we had him evaluated at Children's Hospital in Washington, and were reassured that if there was a problem related to UPD, it would have presented itself. As it was, our little guy was doing great.
Thomas is 28 months old now - talking up a storm, tells jokes, knows his ABC's, his colors, his shapes, a zoo of animals and their noises, and can count to 22, sings his head off, is obsessed with Sesame Street and cars. The only lingering aspect of his genetic "issue" is his size - he's caught up in height, but not weight. He is a slender kid who eats like a horse. But he's very bright. An MT16 success story if ever there was one.
AND I went on to conceive naturally and carry my second son to full term. No genetic issues to speak of, and a very routine pregnancy and delivery. I had no idea babies could be this easy.