The day finally came for my appointment at Maternal Fetal Medicine. I left school early that day to get to my appointment(s) on time. It was going to be a big day: not only did I have my appointment at MFM but I also had one at my regular OB's office to catch up on all the blood work I had missed from that first appointment you usually have at 8 weeks. Anyone who knows me knows how much I HATE needles of any kind, so this always gets me a little anxious. (The first time I was pregnant I was having morning sickness, so combine that with how much blood they took- always seems excessive to me- I threw up and got dizzy and it was awful.) That evening I was going to be teaching my first college level class, which also had me nervous. But I was most nervous about the second half of the MFM appointment: genetic counseling.
I remember when MFM called to make the appointment; they said 2:00 for the sonogram, then 3:00 for genetic counseling. I immediately texted Russell about it and asked him to call a friend who is a PA to find out more about this. Why did we need genetic counseling? Was this standard procedure? Maybe this was how they went over the results with all the patients they see. We would go in and they would say, "Oh, it was just a shadow on the sonogram. Everything's fine!" But what if it wasn't? What were we in for?
We got there and waited a few minutes past our appointment time. The sonogram tech came and got us and took us to the room. I did the usual routine: on the table, shirt up, towel tucked, gooped up. This sonogram took a LONG time. She was taking a ton of pictures of many parts of the baby I didn't know you could distinguish by sonogram: liver, stomach, kidneys. She actually left the room and came back to take more pictures 2 different times. Maybe this should have clued me in, but it didn't: I just thought she was being thorough and maybe the doctors were giving her a hard time about the views she needed, plus the baby was moving around quite a bit.
After we finally finished, we were taken to another waiting room. After a bit of waiting the genetic counselor came to get us and took us to her office.
This was the part I was so nervous about. Before she gave us any results, she wanted us to go through our family tree. She mapped it out as we described our boys, siblings, nephews, parents, aunts, uncles, and cousins, and any genetic medical conditions that we knew of them having. I was bouncing my leg and practically shaking the whole time. This couldn't be good. She also asked me if I had had a recent illness or infection of if Russell or the boys had. Other than Ben having had the croup not that long ago, and the normal runny nose everyone seemed to have this time of year, there was nothing I could come up with.
Then it came out. The news. I was still shaking. Voluntarily and involuntarily.
First: there were bright spots showing up in the stomach and liver of the baby that are usually blood. Being in the stomach was not that unusual, but showing up in the liver was. The only real explanation they had was that they baby had an infection of some kind. If this was true, it would be irreversible (it would be viral, which means antibiotics don't work) and pretty devastating to the baby's development. Depending on what the infection was, it's severity, length of time, etc., it could do all kinds of damage. Because they didn't have any more information, there were really no specifics to give at this point.
Second: The cyst on the back of the head was not a cyst at all. It was a brain development issue known as Dandy-Walker. Basically, the brain usually develops as two halves in a somewhat oval shape. For Dandy-Walker babies, the two halves in the back of the brain (the cerebellum) develop leaving a gap, which fills with fluid. This is what they were seeing in the sonogram. Dandy-Walker is associated with a wide range of issues. Some people have the condition and you would never know it at all. Others have severe physical and mental/intellectual delays or deficiencies. And then there's everything in between. Again, they couldn't give us a lot of information about what to expect, because every child with Dandy-Walker is different.
As a result of Dandy-Walker, the gap in the skull often fills with fluid to the point that it puts too much pressure on the brain- a condition known as hydrocephalus. This is treatable by surgery that implants a shunt to drain the fluid into the chest cavity.
We spent a long time, I'm not really sure how long, in the office with the genetic counselor. She told us our options about finding out more information. I could take a blood test, which would not give yes or no results for sure on anything, (it's my blood with markers from the baby, not the baby's blood) but could give us a better idea about infection and genetic issues. I could also do an amniocentesis, which would give definite yes or no answers about infection and genetic issues since it uses cells from the baby itself. These were completely optional and completely up to us.
When she left to get us information to read later about Dandy-Walker and amniocentesis, I just cried. I couldn't believe this. First a surprise pregnancy with horrible timing, and now the baby would have special needs as well? It just couldn't be possible. I told Russell, "I'm not cut out for this." He responded, "We have to be." I thought about what the gentleman had said at the Thanksgiving dinner to us about being parents. I can't even begin to describe what I was feeling, other than horrible and numb and disbelieving. This had always been my biggest fear- that I would have a child either born with issues or would develop them, whether from an accident or illness- and it was happening. It was real.
The counselor took us back to the waiting room so we could go in to meet the doctor. We waited for a while again, long enough to call Mom and cry and tell her what we had found out. I told her we would call later after visiting the doctor with more information and updates.
I was actually kind of annoyed. We waited a while to see the doctor, it was getting late, I needed to get to my class, and what more was she going to tell us anyway? More bad news? More devastating information on what we had just found out?
I am SO glad we got to see her. I was immediately really comfortable with her. She was very knowledgable, informative- and positive. She showed us pictures of OUR baby and described what was on OUR pictures- and what she had to say wasn't as bad as we had felt from the genetic counselor.
First, the infection. There MAY be an infection, but there may not be. She didn't lead us to believe that it wasn't a very real possibility, but she also lead us to believe that it was just as likely that there wasn't an infection, that these liver spots "are normal for this kid!" When I told her I felt fairly regular movements and could this tell us anything, she said, "Sick babies don't move a lot."
Second, the Dandy-Walker. She explained that there are two 'levels' of Dandy-Walker- syndrome and variant, with syndrome being more severe. She was classifying our baby as variant. She showed us how certain cross-sections of the brain showed the fluid-filled gap, others did not. Which meant that the gap did not span the brain from top to bottom from what they could see, which meant it may lead to less severe issues than it could. She said she has seen worse, and not seen a lot of issues with those particular children. The frustrating thing for her about Dandy-Walker is that the range of severity of issues is so wide, she really couldn't tell us for sure what issues our baby would have, even with testing before and after birth. It would be a wait-and-see as the baby grows and develops (or doesn't) certain skills, both physical and mental/intellectual.
She then explained our options for testing once again, and what would be happening next. I told her I definitely wanted to do the blood test just to at least get an idea of what may be going on since it was the least invasive, and then use the results of that to decide whether or not to do amniocentesis (since it does involve a bit of a risk). We went straight to the lab and drew the blood that evening (because by then it was early evening- 5:30. I had to call the college and tell them I would have to cancel my very first class because there was no way I was going to be on time and ready to go. Thankfully they were very understanding, and I'm sure the students didn't mind at ALL!). We talked with the doctor and the nurse assigned to our case (our point person) for some time about various questions we had and things that came up and left around 6:15. As we left, she told us not to Google everything, to stick with the information given to us by them and to go to the Dandy-Walker Alliance's website: www.dandy-walker.org Russell had already looked at the website between seeing the counselor and the doctor and had already felt somewhat better because the site contained a lot of positive stories about children with DW and the challenges they had overcome.
After we picked up the boys from Russell's parents and explaining everything to them (numbly) we went home and put them to bed, and I, of course, got online. I visited the Dandy-Walker Alliance page myself and found what Russell said to be true. I liked them on facebook, and a few days later I also found a group for parents of DW kids that I joined. I found a 5K held in Ashburn, VA called Carter's Run for Dandy-Walker. The last time it was held was May of 2013, and it will be held again May 17th 2014 and we plan to go to raise awareness and meet other families going through this that weren't far away. http://www.cartersrun.org/
However, the most interesting and inspiring thing I found was a video made by a mother. Her 2 year old son (at the time) had DWV and she talked through her diagnosis and everything she went through and coming to terms with the diagnosis. She said there was so much negative out there, she wanted to make the video to give parents (like us) hope that it would be ok. She ended the video with film of her son doing the things any normal 2 year old would do. It gave me hope that that could be us too, and inspired me to do this blog to hopefully give hope to others as well- though at this time we still aren't sure what will happen as the baby grows (though that's the other purpose of this blog- to keep you, our friends and family, updated). The link to the video is here:
http://www.youtube.com/watch?v=7cxtjxupdag
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