We'd been waiting 6 long weeks for the final results of our amniocentesis. I called Monday to see how it was going and if they new when we could expect results. Our genetic counselor called the lab and they said they were hoping for Friday. I was so happy to have an accurate estimate from them but Friday is really the worst day. I'm off work now due to several things putting me at high-risk for preterm labor so I was glad that I could be at home when I got the call. My husband had to work 10am-8pm that day though and doesn't have the type of job where he can take a break to talk for a minute. Any other day he could have come home, if necessary, but he was firing an employee that day and wouldn't be able to. We talked about what he wanted. We both wanted him to know before I told my parents (who live across town). Originally we thought that I would just have to wait until he got home after 8 to tell him. He called me as soon as he got to work and had decided that he would call around 5 and he would just have to handle the news at work for the rest of his shift. I asked him over and over if he was sure. My trooper of a husband was sure.
I got the call at 12:45. The genetic counselor said that it looks like what they expected. Our little baby girl does have congenital myotonic dystrophy. We were waiting for the number of repeats of the mutated gene to give us an idea of how bad it was. The congenital form or myotonic dystrophy starts at 1000 repeats. She has a range (depending on the cells being tested I guess) of 1000-2000 with most falling into the 1500s. The thing about myotonic dystrophy is that it is such a variable disease that we can't really predict how affected she will be. I visit the Myotonic Dystrophy Community website and look at other people's stories and their repeat numbers and try to get an idea of what to expect. Kid's born within her range seem to spend anywhere from 2-7 months in the hospital after they are born. They seem to always require ventilators and feeding tubes for the time they spend in the hospital (if not longer). They are floppy babies. They are delayed in developmental milestones and are usually mentally delayed as well. And these are the stories of children who have survived. I read somewhere, once upon a time, that 40-50% of children born with this don't survive the first month of life. The rest I can deal with, but the thought of possibly losing her or having to make a decision as to whether to keep her on life support and for how long? I hope it doesn't come to that, because I don't know what I'll do.
So, I could cry at any second of the day now if I allow myself to think about it. A person can really torture themselves under these circumstances. All the things that run through your mind. I probably won't be able to hold her when she's born. Maybe not even see her until she's stabilized. I don't want to go home at night without my baby. Hell, even the fact that she will probably never get to wear her coming home outfit (which I had picked out before I even knew she was a girl) because she'll be too big for it by the time she comes home. Obviously that last one is silly, but it's just another one of those crazy things that can make you burst into tears.
I do have moments though, where I think "We'll be fine." As depressed as this post sounds, I am not devastated. Her repeats could have been a lot higher. We still don't really know what she'll be like. The only thing we know for sure is that she has club feet and is one hell of a kicker.
My mom told me what my dad said when all these complications came up that was really sweet. He said "This baby is just going to need a lot of extra love, and there's no better person to give it to her than lboers." I am going to try to always keep this in the back of my head when times get tough.
Anyway, I've said it before but I did not want to officially belong to this group, but I can't imagine a stronger, braver group of ladies to be associated with. Thanks for all your support thus far and thank you in advance for all the support you will give me in the future.