Mosaic Trisomy 16
I was hospitalized right after the 31st ultrasound appointment. The baby hadn't grown much and they detected that her heartbeat was dropping occasionally. I was there for a week, having at least two non-stress tests a day, ultrasound (to check the fluid level), twice a week, and of course, I was on bed rest. As the heartbeat was getting stable, I was discharged a week later. The 33rd week ultrasound determined that the baby had grown only a little bit, so the specialist decided to do another amnio to check for the maturity of her lungs. The result was “just matured.” I was scheduled for a c-section on the 18th but the special care nursery was too busy that the baby would have had to be sent to Vancouver, which my specialist didn't want. So he rescheduled me for Friday, July 20th.
That morning, I woke up with some pains coming from somewhere around the stomach area. I thought I had bad gas but felt really uncomfortable. I rushed to the bathroom and noticed that I had started bleeding. I had two miscarriages before and simply thought, the baby has died again.” I woke my husband and phoned the hospital. They told me to come straight to Labor and Delivery. We got there at 3:15 am. It was such a relief to hear her heart beating after the non-stress test. I gave the nurse the pad I was wearing and she said my water had broken. They arranged an emergency c-section at 8:00 am. My baby girl was born at 8:28. We heard her crying actually before seeing her, which was quite something for both my husband and I. The pediatrician examined her right away. She didn't need an oxygen mask of any kind for assistance; she was just small. When he said, “she's normal,” we couldn't believe our ears.
Sejia's birth weight was 2 lbs. 13 oz.. Her arms and legs are still skinny but she's been trying to catch up. She stayed in Level II until she was 5 days old. Now she's in a level I nursery and doing great. All the tests they have done so far, except the ones related to the chromosome that we are still waiting for, turned out to be normal. All the doctors and nurses seem so surprised by how normal she is, just small. The pediatrician who has been looking after her said to me she's normal and the results we will be getting in the next week are not going to change that.”
Both my husband and I are happy to see her alive, as I was preparing for the worst. He is totally in love with his daughter. I'm so happy about the fact that I found you, Karen, in the right time. I really appreciate your support during the pregnancy. Holding her in my arms and looking at her makes me so proud and relieved. I wouldn't have known that there was any hope without finding you web site. Our daughter is a living miracle and I'm glad to be part of it!
UPDATE APRIL 2004
Seija has been doing great. Just turned 18 months and walking, running, talking some words, signing (we started teaching her sign language when she was around 8 months old and now she knows at least 15 of them), humming at least 5 songs that we can tell. Her father is a singer so I think she got that from him. She has not started talking as we would like her to be but I believe the time would come. I have been talking to her in my first language and I also heard that could delay the child's speaking ability but once she starts talking, she can distinguish two languages without any difficulties. The genetic specialist we were seeing told us last November that he doesn't need to see her anymore but he would check with her GP to see how she grows. She is still smaller than most of her peers but I am happy that things are turning way better than we can imagine. I really thank you for your support during my difficult pregnancy. I have no idea what we would have done without you. Now I am expecting our second child and it has been a pretty normal pregnancy. Seija is going to have a baby brother (seems like we are going to have a boy) in end of July.
Attached is a picture taken after her first birthday. I lost my
digital camera last month so lost all the pictures from Christmas. I am
still upset about it...
UPDATE MAY 2011
Seija is now 8 and ½ years old, wow, time flies. Pictures are from last summer, so she was 7 then. She has been enjoying ice hockey since she was 5, as well as playing piano. She is taller than average girls in her age group (and she is a bit chubby at the moment, which she seems to do before getting taller.) She has not had any surgeries or medical complications. We have not seen any specialists since the pediatric cardiologist announced that her heart problem (she had a “pocket” in one of her chambers) healed on its own when she was around 3. She has gone through some speech therapy sessions at school, not a major issue here. She has been struggling with her math, but has had no other academic issues or delays. She is a healthy, happy 8 year old who is keeping her parents busy.
UPDATE April 2014
Seija is now 11 1/2 years old. Picture is from the summer of 2012, when she was almost 10. She started having her period one month before her 11th birthday in 2013. She dealt that very well, considering I was at work when that happened, and she told her dad that she started a period. One of the findings we had with her was her x chromosome is a copy of a parent (they could not tell if it was maternal or paternal) but her xx chromosome is not one from maternal, one from paternal, the normal way. We were warned that it may affect her female organs and functions, and she may not be able to conceive. So when I heard the news from my husband that she started having a period, it was a big surprise, considering she was still 10.
She still plays hockey, piano, and started playing a trumpet this year through her middle school's program. Academically, she is still struggling with her math, but her reading/comprehensive/writing skill is the very top in her class, at least that is what we were told by her teacher. She reads a lot. She finished reading 'The Hobbit in 2 and 1/2 days while attending her brother's hockey tournament in Seattle last year when she was 10. She reads so much (3 to 5 books a week of that size) we have to tell her No READING unless you finish "this" type of thing.
Growth-wise, at 11 and 1/2 years old, she is about 5'2 (154 cm) tall. She has never been on growth hormones. She stopped telling us how much she weighs, and I could totally understand that with the age. I am guessing she is around 125 to 130 lbs range.