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Being 36 weeks pregnant I've got 30,000 things on my mind - the ever growing to-do list, things I still want to order, gift cards to go use (woohoo!), tiny little outfits to fold and hang, diapers (and diapers and diapers) to unload from showers, and only 4 weeks (I hope!) to get it all done!
We've had three awesome baby showers now and have gotten more than we could have hoped for to help welcome our baby girl. Inevitably, someone (or multiple someones) always ask: are the girls excited to have another sister? My standard answer is "Well, Little Bit was adamant at first that it had to be a boy because she doesn't want any more sisters, but I think they're both excited now" to which I usually get the response: "Well as long as it's a health baby, I'm sure they'll be thrilled either way!" At this point, I just smile and nod because the response is always right there: And if is she's not a healthy baby?
You see, about 4 months ago - at the end of July - we went in for a routine sonogram. We had already found out it was a girl, but things were far enough along now that we were excited to get to see some details...little hands waving, feet kicking, facial features, etc. C and I went in, the sonogram was great - we got to see little toes and her hands all curled up under her chin. Then C left and I went to do the boring blood pressure, urine sample, myriad of questions about how I've been feeling, etc.... or so I thought. The doctor came in and right off the bat says: "We're concerned about some abnormalities in the sonogram and want to run some additional tests. Did your husband already leave?" When I said yes, she said "You should call him to come back."
The Sono Tech had noticed a couple of concerning things: 1) it looked like she had clubbed feet and 2) the skin around her neck was thicker than it should have been (called cystic hygroma). On their own, neither is particularly concerning - while painful, club feet can be corrected; and the cystic hygroma is disfiguring (depending on the severity) but not life threatening. Together, they are indicators of Turner's Syndrome - a rare condition that only effects females (think: Mary Lou Retton). There are a lot of issues associated with Turner's - including spontaneous abortion or stillborn babies - but one of the most common is that the girls effected by it never fully mature, go through puberty, etc. They are very petite women, and the majority of them are unable to reproduce because they only have one X chromosome.
I had just seen my baby girl's tiny little toes for the first time, and was now being told she would more than likely never have that same experience.
My doctor wanted me to see an Fetal Maternal Specialist, but couldn't get in touch with his office at the moment to schedule an appointment so she asked if I was ok with doing an amniocentesis in their office so they could get the results back as soon as possible. With the risk of puncturing the baby (who would not be still at the time), not getting enough of a sample, and not having my husband there yet to hold my hand, was I ok with them sticking a 6 inch long needle into my stomach to draw out enough amniotic fluid to determine if my baby was genetically ok or not? Did I have a choice?? (**Note, I did not feel pressured in any way by my doctor to make an immediate decision or forced to do the amnio - I just felt very overwhelmed with everything that was going on and knew that the only way to find anything out was by doing the amnio...and didn't know when C would be back because he had already made it back to the house at this point**)
Next step: waiting 3-5 days for the initial screening to come back and up to 6 weeks for the full panel.
We went home and I cried. A lot. And then I had to finish packing, because I was supposed to leave the next day for the biggest conference we host each year at work. And then I cried some more. The girls were with their mother that month, but we were supposed to pick them up for dinner - so when I showed them the new pictures of Baby Girl and Little Bit said "she looks like an angel" I had to go back to the bedroom and cry some more. At some point that afternoon we got a call that they were able to get in touch with the specialist and I had an appointment for the next morning.
We drove to the specialist's office and went through one of the longest sonograms ever - 2 hours of looking, measuring, explaining, pointing things out (it's a teaching hospital) and then putting it all into English for C and I. To sum it up, the Specialist said: It's not good, but we won't know how bad until the results come back." He talked about three probable outcomes, based on what he was seeing - Trisomy 13, Trisomy 18 or Trisomy 21 (or Down's Syndrome). In addition to the feet (which he described more as rocker bottomed than clubbed), and the cystic hygroma (although he said it wasn't presenting as a normal hygroma because it was much more evenly spread as opposed to on one side of the neck) he also noted that she had positional hands. Her hands weren't necessarily curled up under her chin like she was resting because it was comfortable, they were there because she couldn't move them.
The hands and feet were what pointed more toward Trisomy 13 and Trisomy 18, however the thickened skin pointed more toward Down's Syndrome. The sticking point in all of it was that she was right on track for her growth, whereas most babies with genetic abnormalities are small for their age. There were also no other indicators for any of the three (i.e. facial abnormalities such as cleft pallet, small jaw, wide set eyes, etc; and what they could see of her heart looked fine). So that's why we ended with "It doesn't look good, but we don't know how bad".
We got the initial test results 4 days later: she had 2 X-chromosomes (ruling out Turner's Syndrome) and there were no glaring anomalies with the other chromosomes. My doctor said she would send the results over to the specialist and get his feedback, but in the meantime: more waiting. The in-depth test would look more closely at everything and we would go from there. One thing you don't want to do to a first time mom is give her bad news and too much time to do too much reading. I read. I researched. I absorbed. And for about 6 weeks, lived with the idea that I might have a baby that I only get for a week - a month if things went really well. In both Trisomy 13 and 18, less than 10% are carried to full term. With 13 - about 5% of those make it more than a week; making it to a year would put her in the 2% category. So I cried. And I prayed. And I read. And I cried and prayed some more. And I tried to accept the fact that there was a reason for all of this - but when you're the one carrying the baby inside you, there's really only one thought: I failed. I was supposed to keep her safe for 9 months and I couldn't even do that. And to an overly hormonal, pregnant, distraught woman that train of thought is perfectly rational and there's no amount of reading or researching or logic that can convince her otherwise. So mostly I cried.
About a week later the final results came back: there was nothing genetically wrong with Baby Girl.
Which only left me with more questions - I was so relieved to be able to rule out the genetic abnormalities, but what did that leave us with? If it wasn't the glaringly obvious things, what else was there? I continued to see the Specialist until 32 weeks and was set on a rotation between him and my regular doctor so that every 2 weeks I was in an office getting poked, prodded, scanned, tested and looked at. The Specialist said he had three research assistants looking at everything they could to try and find some sort of an explanation. There was none. I got to help 5 different sonogram techs with their training, and am blessed to say that I have a much larger collection of sonogram images of Baby Girl as she grew inside me than most moms get. And grow she did - she grew right on track, and then jumped ahead of schedule. Her head has constantly stayed 2-3 weeks ahead of schedule; her abdomen was about 2 weeks ahead, but has slowed down and is now average. Her brain, heart, kidneys, lungs and bones are all right on track, functioning wonderfully. She has a beautiful (chubby) face with no visible defects. Her mouth and nose are perfect. Her eyes are opening and she is swallowing just fine. The Specialist finally said there was no point in me continuing to drive to his office - there was nothing else he could think of to look at or test for or measure.
We finally told the girls last week. We wanted to prepare them because even though there was nothing genetically wrong, she's not entirely in the clear yet. We're still not sure about her feet. The thickened skin is still around her neck, but it hasn't grown so we're not sure if her head grew into it or if it will cause any problems after she's born. The biggest concern is her hands. We did finally get a picture of one of her hands waving, but she has kept the other one tucked up under her chin in the same position so there has been no confirmation if there are digits there or not; or if she can move that arm or not.
So how do you respond to the "as long as she's healthy" comment when on the inside you're screaming "WHAT IF SHE'S NOT?" With a smile. Because no matter what, she's your Baby Girl. Healthy or not, she was given to you. Whole or not, you're responsible for her. And you're going to love her anyway.
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| One of the happiest appointments we had - she has fingers! |
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