So despite that my chances of having another child with MMD are 50/50 we decided to try again for another child. After conceiving we decided that we did not care to find out if the child had the disease or not and did not do any testing. After having talked to a few Dr.'s they talked us into having testing done in the better interest of myself and the baby during delivery. They said that during delivery if the baby had the disease then all the necessary personnel could be present to help the baby get the correct treatment if anything went wrong. So an amniocentesis was scheduled at 25 weeks gestation. It takes generally 4-6 weeks to get the results back. I also had testing done to see how many repeats I have. I got my answer back within 2 weeks. I only have 233 mutated repeats. I received the baby's results at 30 wks gestation and she has 933. They say that usually it only about doubles what the parents have but the interesting thing is Dallas has somewhere around 636 repeats and the baby has over 900 that was shocking to us. So I cried when I got the call. We had so much hope that she would be 'normal' and we had prayed and this was our answer.
The pregnancy went pretty well it was about the same as dallas with maybe a little bit more fetal movement. Most days I would feel her move all day and then some at night. That is when she was most active was at night. I went some days without feeling her move at all and that is a little scary. She was breech the entire time so I went through a C-section delivery. I definitely would not recommend that if It can be avoided. The recovery was long and painful for me. On the delivery day I was a nervous wreck. The hospital personnel was so kind to us. I had expressed my fears and concerns for the baby that she would be sent straight to the NICU and I wouldn't get to see or hold her. We thought with her repeats being as high as they are her condition would be more severe than Dallas'. So the delivery staff said they would do all they could so we could at least see her and hopefully hold her. She was delivered and started to cry immediately which made me feel so much better that she was breathing. Her cry was quite loud which surprised me. They cleaned her off and placed her on my chest so i could see and hold her and they told me she rated and looks absolutely 'normal'. They kept her in the NICU for 7 hours just to observe her and make sure she was doing okay. They kept it under 8 hours so i wouldn't be charged for a day in the NICU. She did just fine, sucking was good, breathing was good. Her blood sugar was a little low but that was about it and it came up right away after a few feedings. I spent the next few days with her in my room the entire time.
The disease is really interesting that she could have so many and be perfectly normal so far. We are still keeping an eye on when the symptoms will show up. Maybe in the next few months, or as a child or she could be just fine until adolescence or adulthood. We are just crossing our fingers hoping they don't appear until after she starts talking and walking. I don't want to go through all the therapy that dallas went and is still going through. We named the baby Charlotte I sometimes call her Charles. She is a little over 2 months old now and is quite wiggly and talkative her smile looks great and she's got pretty good head control. I had Dallas' PT look at her and she says she has great tone and all the necessary reflexes that babys are born with. She's even got a great grip.
So there is hope!!
This is little Charles she looks so much like her big sister!
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