So, there is a reason for the lack of pregnancy updates, and it isn’t good. I’m writing this blog post so that hopefully everyone can read it, and update themselves on what is going on, thereby eliminating the need to repeat everything 22861882 times.
At 19 weeks, Stefan and I went to Walter Reed Bethesda for the anatomy scan. Baby Murphy was being extra stubborn, and they couldn’t get any good images to verify all the organs were developing properly. So they sent us to a Maternal Fetal Specialist.
At 21 weeks I was finally able to see the Maternal Fetal Specialist (you don’t even want to know the nightmare phone calls I had to make to get the appointment), and Dr. Sweeney had bad news for us. Baby Murphy
- was about 2 weeks behind in growth
- had a concerning spot on the heart
- had a cyst on the left kidney
- and was having trouble producing amniotic fluid, which was evident in the amount that was in the uterus.
Stefan and I were devastated. We were immediately sent over to a genetic counselor who explained that whenever they see this many problems in fetal development that there is normally a chromosomal genetic abnormality that is causing the issues. They recommended that I undergo testing in the form of an amniocentesis to view the chromosomal pairs and see exactly what is going on. She also told us that the amniocentesis is as definitive as you can get in this stage of pregnancy testing. I consented, and they did the procedure that day.
2 weeks later, at 23 weeks we were informed of the results. Baby Murphy has a really rare genetic abnormality called Trisomy 10q. A quick explanation is that the 10th chromosomal pair made a partial 3rd copy (of the long (Q) arm), and that extra copy attached itself to the 22nd chromosome. This condition is extremely rare, and there isn’t very much information on it. The lab director said that this is the first time he has seen it in a live baby this far along. All other instances he has come across has been in miscarried babies.
So what does all this mean? Basically, we have to wait. Because of all the extra genetic material, there is a large chance that Baby Murphy could miscarry. There is nothing I can do, as a pregnant woman, to prevent that. My body is doing everything it needs to do, and I have not been put on bed rest, or limited work hours or anything of the sort. If Baby Murphy does not miscarry, and grows big enough to survive in NICU with interventions, then we will probably induce labor early. I have weekly appointments with Dr. Sweeney to check on the progress Baby Murphy is making, and so far there has not been any changes. Baby Murphy is still about 2 weeks behind in growth (I’m now 24 weeks), the cyst on the left kidney is still there, the amniotic fluid is still low, and Dr. Sweeney believes that the heart problem is a Tetralogy of Fallot (abbreviated TOF). If Baby Murphy continues to grow enough, I will be sent to a fetal cardiologist to verify if that is accurate.
If Baby Murphy does make it home, there is a wide spectrum on what life looks like. There will likely be health problems, and in the few cases I have found of Trisomy 10q online, the children often have a loss of hearing. We also have been told to expect learning disabilities/mental retardations. We’re doing our best to prepare for these outcomes, and are hoping and praying Baby Murphy makes it home.
Stefan and I also decided that with the future of Baby Murphy so unknown, we wanted to find out the gender. We’re having a baby girl, her name is Analiese.