Wednesday, 15 November 2017

Our Dandy Walker diagnosis: Part 3 (The genetic counselling and MRI)

On Tuesday May 16th I went to a health centre in Fredericton to have a teleconference call with the genetics team at IWK. It had been a week since the 20 week ultrasound appointment. I met with a genetic counselor and a geneticist. By then I still hadn't done much of my own research. They were surprised I was on my own, but again, Jon and I were still trying to be as normal as possible, and we also had this clinic that we had just bought. And I just still thought things were all going to be ok. Looking back, I think I was kind of in shock, and not really facing things. I was not sleeping, and Jon and I were kind of just in autopilot.

The genetics team explained to me more about Dandy Walker, how it is usually one of three scenarios: related to another syndrome, related to a problem with the chromosomes, or isolated, with no other abnormalities. I was like, ok, so the isolated one is the best, right? They were like, no, we really can't say that. All three options can be equally risky and have equal developmental issues. I told them that it felt really terrible because we were in such a grey area, not knowing if we might have a baby who will not survive the first year, or a child who would live a longer life, but with severe issues. They were like, yes, that is the problem, and we really don't know enough to tell you more. Dandy Walker syndrome, like so many things, is on a spectrum, and they can't predict the outcome from ultrasounds and testing during the pregnancy. They said the odds of having a baby with Dandy Walker are 1 in 35 000, which seemed so crazy to me. I couldn't understand why this happened to me.

The informed consent for the testing that they do for genetic counselling is pretty intense too. They were examining my chromosomes and Jon's as extensively as they could, and it was possible they would find genes that are linked to certain cancers. So we had to give the OK that they could tell us if they found that one or both of us would likely develop cancer later in life. Jon and I had just taken out a huge seven digit loan from the bank, so we had undergone extensive medical testing to be approved for the required insurance. But this baby was of course so much more important than all that. Luckily, the testing came back clear. It just means that Jon and I don't have any of the genes that they already know are linked to cancers.

The genetic counsellor explained that the assays they do are like looking at the chromosomes as if they are books on a bookshelf. They can see if any books are missing, and they can sometimes see if the books are not in the right place or upside down. But they can't open the books and see what is inside them. So even if the chromosomes of the baby look like they are all present and in the right order, they might be really messed up when you open them up and look closer.

(this photo was taken an hour after I finished the MRI. we considered cancelling this visit to a local elementary school, but I refused to cancel anything)

We went through my family history and Jon's family history to make sure Dandy Walker or a related syndrome didn't run in our family. They also wanted to make sure Jon and I couldn't possibly be related (we couldn't). Our history looked good. I told them we were considering termination depending on the results of the amnio and the MRI. They told me that many moms opt for terminating the pregnancy if there are going to be brain deficiencies/abnormalities. The genetic counselor told me that Jon and I should start thinking about what we would do if we remain in the grey area. She said the amnio and MRI might not tell us anything more than what we know now. During the meeting with them, I got a call from the specialist's office that the first part of the amnio came back, and the baby was negative for Down's syndrome and trisomy 18, which was no surprise to us since the specialist had told us that it looked like the baby didn't have those things, and the baby had tested negative for the serum tests that we had done earlier and also the nuchal test that was done at the 12-week ultrasound.

I asked if there were any parents of Dandy Walker kids who I could talk to to learn about what their lives have been like. I wanted a support group or something. They said that it is so rare, that even at a hospital like IWK, they don't see it much, and there is no way for me to talk to anyone who has been through this.

The genetic counsellor was clearly pregnant during our Skype appointment. She was rubbing her belly lovingly the entire time we talked. I felt so sad. I wanted to be the woman rubbing my belly lovingly. I wanted to be happily pregnant. She seemed so insensitive to me. I was so jealous of every happily pregnant woman. I would look at families with more than one kid and think about how lucky they were. I wondered if those moms realized how lucky they were. I was in a bad headspace. 

After that appointment, Jon and I got serious about considering termination. The doctor had told us that it is better to do it before 24 weeks, and I was almost 22 weeks at this time. We cried together every night, and talked at length about what we want our lives to look like in the future. We mostly talked about Cohen, and what we want for him. And we talked about what we wanted for the baby. Jon felt strongly that we became parents to the baby the moment we found out we were pregnant, and we needed to think about what kind of life we wanted for this baby who we already loved so much and had so many plans for. 

On May 19th, Friday, I had the fetal MRI. I was in the tube for well over an hour while they tried to get the images they needed while baby was flipping around like crazy. The MRI is this: they put ear plugs super deep into your ears, you lay on this board that will slide into the tube. They put a heavy board on your belly, and then little pillows around your arms. Then they slide you in and you hear the loudest sounds ever and they vibrate your body like crazy. It's so weird. You have to hold your breath over and over again. It's super uncomfortable. The ultrasound technician asked me if the baby was a boy or a girl. I said I didn't know. I hated getting asked that question. I felt so sad about this baby, and I didn't want anyone to ask me any questions about her (we really felt like the baby was a girl).

I ended up breaking down at work with a woman I had only known a month. I told her what was going on between sobs. Shockingly, she was like, I get it because I have been there. I was like, did you have a miscarriage? Because at that point in my life, I felt that a miscarriage was completely different. With a miscarriage, you don't spend days and weeks agonizing over the biggest decision of your life. The decision is made for you. But no, this woman had been through almost the exact same thing as we were facing right now. She had opted to terminate a pregnancy at 23 weeks due to medical issues. It had been years ago, and she now had healthy happy kids. I wanted to know: did she still think about her lose every single day? Did she have guilt? Did she worry about judgement? I still feel so lucky that the universe put her in my path that day. After that I decided to be completely honest about this experience because women go through horrible things and we need to support each other. I have since talked to so many friends and acquaintances about postpartum depression, miscarriages, infertility, medical issues, etc. 

The following week the specialist called me at work, and I broke down with her, telling her we were thinking of terminating, and that I felt so weak and horrible about it. I felt like another stronger more devout woman would keep the pregnancy, even if the baby didn't survive, even if the baby suffered from health issues. She was so good and supportive and just really compassionate. She said I needed to really consider Cohen, and the live we wanted for him. She reminded me that it is best to terminate before 24 weeks, as this is the age when the fetus would be viable outside the womb. We agreed that I should cancel my appt with the OBGYN that was booked for the Thursday because I really didn't think I could handle telling another doctor this whole story. She asked me if I wanted to get a second opinion. I just really didn't want to deal with it all over again. I felt so horrible about everything and I felt like another person telling me this all again was not going to help me. I felt broken. 

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