And the Bubble BurstsMay 14, 2011
This is not the post I had ever imagined writing. It is not a post I want to write, but I have known for the past several days that I would have to write it. I can’t hide forever. It is a part of my life right now that I would probably rather close off, but as I have always thought with weight loss that if hearing this can help someone else, then it makes it worth writing it. Right now I feel alone. I have been searching for other experiences, other blogs, for hope, for the things to say… so far I’ve come up empty. I want to document this anyways… as a coping mechanism, as something tangible that I can have for later. So here goes…
Thursday morning we had our 20 week ultrasound. The baby is a girl, so my premonitions were right. But there are complications with the baby. The ultrasound tech was very happy-go-lucky. Never in the 30 minutes she was scanning me did I feel something was wrong. The baby was moving a ton, we joked about it. At the very end she said, “Let me make a deal with you guys, I’m going to get a doctor to check something out, and after that we will try to get some better pictures, ok?” She left the room. I looked at my husband and remember saying, “This cannot be good, but even as I said it, I did not, nor could not understand the enormity of what was about to come our way. My very own doctor entered the room, and said something about some excess fluid around the heart and lungs, and after that we were given an appointment 2 hours later with a maternal-fetal medicine specialist. We left in a daze, not understanding what was to come, and later that day met with a specialist and a genetic counselor.
There are many unknowns at this point, but I will tell you what I know. These are the facts.
The baby has a cystic hygroma on its neck - this is a large fluid filled sac - kind of like a big tumor. She also has fluid around the heart/lungs - and while the heart structures appear normal, the fluid is likely evidence of a heart defect we are not seeing yet. The baby is not completely growing on track - the arms/legs are shorter than they should be... Yet are normal. The head/belly are measuring normal. The baby’s weight is normal for 19 weeks. The baby's face, spine, and brain structures are all normal. So much wrong, yet so much perfectly formed.
The specialist feels it might be something called Turner syndrome. Turner Syndrome is a chromosomal abnormality - in basic terms a girl is an XX and Turner syndrome girls are missing part of all of the second X chromosome. Normal babies have 46 chromosomes, Turner syndrome babies are 45 chromosomes. It is present from conception. It is not something you can "fix" by resting more or doing something different. 90%+ of babies with Turner syndrome die in a miscarriage or stillbirth. The majority of those are first trimester miscarriages, so it is uncommon to see Turner syndrome beyond the first trimester, as in my case, and even more uncommon for a Turner syndrome baby to make it to birth alive.
We are told that the condition of the hygroma and fluid in the heart/lungs will either get worse, stay the same, or get better - not really very helpful. Babies with Turner syndrome have a very high incidence of heart defects many of which are unfortunately fatal. The Turner syndrome itself cannot and will not go away. Also, to make things even more confusing, the baby may not have Turner Syndrome and could instead have a rare unknown genetic defect, been exposed to an infection, or even have Down Syndrome. Although the doctor feels those are unlikely scenarios. For now though, given all the evidence, the doctor strongly feels this is classic Turner syndrome, and it is what we were mainly counseled on. We cannot know definitively if this is Turner syndrome unless we do an amniocentesis, which we have decided against for now. It doesn't change the outcome anyways.
We have been told there is about a 2-7% chance our baby will be born alive. Unfortunately the baby having these issues puts me at even a higher risk of preeclampsia and HELLP syndrome to reoccur. So, the doctor’s are definitely having to manage my health in all of this as well. I will be at a doctor every 1-2 weeks for the immediate future. Once the baby is past 24 weeks - about 4-½ weeks away, they could deliver her, and intervene more easily for her on the outside, but a 24 week baby - even one without outstanding health problems, still doesn’t have a great chance of making it.
If the baby does have Turner syndrome and does survive the pregnancy without severe heart defects, she can have a very good life... she could never have children of her own, but would have a near normal IQ, with little if any mental handicaps, and not really any outside longstanding cosmetic symptoms, other than she'd probably be quite short.
We have a follow-up ultrasound in 3 weeks at the specialist to see what is happening (worse better or the same), and 5 days after that the baby will have an echocardiogram - which is a special heart ultrasound done by a pediatric cardiologist.
How am I feeling? I am going to be completely honest here. I am extremely bitter, angry, and terrified. I am having trouble having any faith or trust. After miscarriage, the difficult birth of my son, and now this I feel that somewhere I must have done something horrible in my life to deserve all of the sadness that has happened to me and my family. I do not deserve this as a reward for my efforts. This little girl does not deserve this. I feel like the weight I lost, the huge life changes I made were all for crap. I feel like I'm in a haze walking outside my body watching a nightmare unfold. Given my history and our experience and age this is our last chance to add to our family, and the sadness I feel is gut wrenching at best. And yet, in the midst all of the hurt, pain, crying, I have small moments of peace, relief, and clarity - small ones - but I suppose that is all I can hope for. It doesn't help when I feel the baby kicking and know she is alive and trying, but doesn't know the reality and gravity of her situation. My bubble is certainly burst!
I know that miracles do happen, but I also know that this world is full of sin and evil. I believe in the power of God to heal, but I have not been able to pray for myself or my unborn child yet, as I have no words to say. I am hoping for a miracle, yet I am expecting the worst. I am a pessimist, I always have been. I know many other people are interceding on our behalf already, and I cannot thank them enough. I would covet and appreciate any prayers you can send our way. I would appreciate you spreading our little girls story to others that might pray for her as well.
I cannot guarantee how I will handle posting from here on out. I certainly don’t feel like posting about weight loss or health, as it all seems so unimportant and trivial at this point. At the same time I’m not sure how I feel about posting about this pregnancy ongoing, but as I stated at the beginning, I also wish that I was able to find a blog out there sharing someone else’s experiences with this, and so far have come up empty.
If you have them, hug your kids tonight. I know I have been hugging my little boy constantly. I knew already he was a miracle given his start in life, but I only feel it even more strongly now. Over the past 4 years of my life I've unfortunately come to realize what a miracle having a healthy baby actually is. Yes, it seems like people do it every day, but so far in my life that has not been my personal experience.
Bubble. Officially. Burst.