NIPT Results

I had a rough day today. I had to drag myself out of bed to use the toilet several times last night and this morning because we went for sushi yesterday, and I made some poor choices. Yes, I am still eating raw fish and seafood (ie. Sashimi, sushi, maki) but I trust the places that I’m eating at- they are busy, have a high turnover, and are clean. Plus, from what I have read, food poisoning from sushi is just as bad for you non-pregnant as pregnant, so it’s not like there’s a greater risk during pregnancy. That’s not why I am having the runs though. I usually try to stay away from things with any “sauce”- teriyaki sauce, soy sauce- because usually, they have gluten in them. Wheat flour is a common ingredient in soy and teriyaki sauces, so I have to buy special gluten-free varieties, which are expensive, and most sushi places won’t splurge on that kind of thing. So those yummy beef-wrapped enoki rolls and the bulgogi beef ribs that I ate are probably to blame for the mucousy gluten-sludge in my toilet. It’s so nasty. When gluten hits my digestive tract, an autoimmune reaction happens. My body tries to get rid of it by producing lots of mucous so that the gliadin proteins in the gluten aren’t in contact with my digestive lining because it’s so irritated. This means lots of nasty poops. Anyways, my belly bloated up within a few hours of eating, and it was so painful. I felt a lot of pressure a bit higher than I used to, thanks to my uterus growing out of my pelvis, and pushing everything like my bowels upwards. Luckily, the worst of it is over now, and I’ve re-learned my lesson again to stay away from gluten!
Sorry to have subjected you to the descriptive details of my poopy adventures. Kudos for surviving that.

Now, onto the good stuff…..

I went to the gym today, and dragged my feet through my entire workout, which was surprising, because today was leg day, and I LOVE leg day. I guess the waiting by the phone for weeks had caught up with me, and I was starting to really feel hopeless about it all. 

I finished my workout, came home, and made myself a turkey sandwich (gluten-free bread, microwaved the nitrate-free cold cuts). Halfway through eating my emotions, the phone rings! 

It’s my genetic counsellor! 
She has good news!

Yes, that’s right….. GOOD NEWS!

Dumplin’ is LOW RISK (<1/10,000) for all three trisomies!! 


I texted and called DW as soon as I heard the good news, but she was picketing and unable to answer her phone. When she finally called me back, we both cried tears of joy over the phone. We are so grateful for all of your positive thoughts, prayers, supportive messages, texts, and comments. I honestly don’t know how I would get through this without all of you. 

 (Beautiful flowers from the very thoughtful MyPerfectBreakdown) 
Tomorrow, we have our early anatomy scan, to check out Dumplin’s heart and other body parts, and two and a half weeks after that we have our fetal echocardiogram. Fingers crossed that all goes well with these tests too. 

For now, I’m so grateful for this good news. Best Mother’s Day gift ever!

Our Appointment with the Genetic Counsellor

Months ago, an artist friend of mine was making pendants out of antique knives and spoons, and I just had to order one for DW’s birthday. It arrived in the mail today, and she loved it and wore it to our appointment downtown.

It was a super beautiful day to drive with the sunroof open, and we arrived on time to our appointment with the genetic counsellor at the fetal medicine unit of the hospital. Moments after we arrived, the waiting room went from four people to completely full, and we were seen for our appointment a bit late. Our genetic counsellor was wonderful. Early on, we had established that DW has a masters degree and extensive industry experience working in genetics and DNA analysis, and that with my medical degree education, I was very well read in the basis of all of this work. This pleased her, and we were able to talk about things at the appropriate level with her. We went through my family history, as well as what we knew of our anonymous sperm donor, the only notable detail that my mother has a sister with an unidentified, non-chromosomal mental challenge. 

She then went on to outline the possible reasons for our nuchal translucency of 3.8mm (>3.5mm):

1. Normal variant- Dumplin’ is just fine, and just measures a bit big behind the neck.

2. Trisomies 21, 18, and 13.

3. Heart defect.

4. Noonan Syndrome, which has an associated cardiac issue.

She talked about our Non-Invasive Testing Options:

1. NIPT blood test (aka Panorama, Harmony, Verifi) – covered pending government funding on a case-by-case basis, and can be done anytime after 10 weeks pregnant. This screens for the Trisomies with 99, 97, and 87 percent accuracy.

2. Fetal echocardiogram done at 15-16 weeks to visualize the heart.

3. Detailed fetal anatomy scan done at 15-16 weeks and then again at 19-20 weeks- looking at soft markers and visualizing the heart again.

Then she went through the Invasive, but “Gold Standard” diagnostic tests, the CVS and Amniocentesis. I’ll be too far along to do the CVS, but the Amniocentesis would be to diagnose any conditions related to abnormalities in the chromosomal collection or DNA that can be found in a karyotyping and microarray. They also look for deletions and duplications in the DNA sequence that are known to be pathological. Apparently 1.5-2% of the population possess these deletions/duplications that are associated with known learning disabilities. Since few people have actually had their DNA sequenced and tested, they might not even know this! This was fascinating to me and DW, being teachers who deal with a lot of at-risk students, and those with diagnosed and undiagnosed learning difficulties. 2% is really quite prevalent.

After outlining our options, we explained our choice to go the non-invasive route first- NIPT, fetal echocardiogram, and anatomy ultrasound. I told her that we had already applied for funding for the NIPT but hadn’t heard back yet. Yesterday, I called the Ministry of Health to inquire on the status of my application (faxed in by my family doctor’s assistant on April 22nd), and found out today (April 28th) that they never ever received it!! I was livid, but channeled my energy into our option of re-applying for it through the genetic counsellor. So we refilled in the paperwork and she resent it. Apparently, the Ministry of Health has ONE fax machine for all of the applications for non-provincially paid lab and diagnostic tests! When she tried to send in our application, she kept getting busy signals. So I guess she’ll have to keep trying… What a waste of skilled personnel!

Anyway, hopefully we find out in a day or two about the NIPT funding, get the blood test done, and wait another 10 days for the results. Fingers crossed for a speedy turn around time, as I feel like the waiting has been really hard on both of us. 

13 Weeks

Dumplin’ is the size of a peach or a jalapeƱo now. My belly hasn’t really changed since week 11, which has me convinced that my “bump” was definitely more bloat than bump. Maybe it’s shifting more to being a bump than bloat these days. I noticed a gradual decrease in the bloat after I stopped the progesterone suppositories, which makes sense.

I haven’t been sleeping well ever since last Friday’s abnormal NT scan. It’s weird, but it kind of made me go through some of the stages of grieving, even though nothing definitive has come up yet. I guess considering all of the possible outcomes has brought out a lot of feelings- for both myself and DW. We’ve both been crying pretty much everyday, and then feeling guilty for not celebrating Dumplin’ all moments of the day. It’s kind of like being in limbo- we’re scared to act as if everything is perfect with the pregnancy, in case… Just in case we’re let down again by life. But by preparing ourselves for the worst possible outcome, I have felt bad about how I’m treating Dumplin’. I haven’t allowed myself to be as connected to her, I’ve pretended that she doesn’t exist. It’s terrible, and I feel super bad about it. So as of yesterday, I told DW that I’m going to pretend we never got this stupid NT test done, and continue loving and baby dreaming about Dumplin’. I think she must be able to sense how I feel about her. I love her so much. We both love her so much. She is safe inside me. 

My family doctor has been amazing with trying to get us in to see the genetic counsellor (this Tuesday), and with submitting paperwork for funding the NIPT. We are still waiting to find out if we’ve been approved, and it’s taking longer than I expected. I thought I’d hear back by now. 

I’m still spotting a couple of times a week. I’ve noticed it happens a couple hours after I’ve had an orgasm or have been physically active. I’m not sure about the status of the SCH, but I’m assuming it’s still around. 

As the weather gets warmer, I find my dreadlocks to be a bigger and bigger pain. I love them, and feel most like myself when my hair is in natural dreads. It’s such an easy hairstyle too- I pretty much don’t do anything to them. Because I’ve had them so long now, they are self-maintaining. My longest dreads reach halfway down my back, and they are gorgeously mature. The problem is that they’re getting really heavy, and when I wash them, I’m nearly putting my neck out because they’re waterlogged. They are also super insulating around my neck and shoulders, which makes it hard to sleep sometimes. The weight of them is also starting to pull too much on my hair follicles, and I’m getting scalp irritation in some areas of my head. For all of these reasons, I have decided to part with my dreads. Now I bet a lot of you are wondering if I have to shave my head, and the answer is no. I’ve been patiently combing out each dreadlock. Since they are natural dreads (knots form on their own, and with my own hair) the mats are easier to comb out. I’ve already taken out 10 dreads in two days. I’m shocked by how little hair I have left, but I think it’s just that my hair is naturally very fine. It’s gonna be a thin straggly mess when I’m done, but I am going to Pinterest some hair styles that I might have my hair cut to. Combing out my dreads has always been a very emotional experience for me. I’ve done it three times, and each time it’s coincided with a major life transition. Maybe this time it is my soul welcoming motherhood?