Home » Pregnancy 2015 » Our Appointment with the Genetic Counsellor

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. 

42 thoughts on “Our Appointment with the Genetic Counsellor

  1. I am glad (although that’s the wrong word I cannot think of the right word at the moment) that you were able to speak to a specialist in an intelligent manner and outline your next steps. I’m also glad (as above) that you figured out the problem with the funding request and were able to funnel your energy into submitting a new one – are you able to confirm that they received it this time?
    I know this waiting and uncertainty cannot be easy for you and DW, so I’m hoping for quick answers and good answers too. πŸ™‚
    Sending you love my friend.

    • Thank you πŸ™‚ Yes, once again, my own diligence revealed the fuck up. I can’t even imagine how often this must happen- people requiring life-saving measures that aren’t OHIP covered, etc. I was told that we should hear back tomorrow or the next day max, so if I don’t hear back by Thursday, I’ll harass them again. I just hate that we lost 6 days in waiting. Especially when it’ll be 10 more days after the test is done before results come in. That’s a lot of time stressing and worrying. Last night, DW was so upset and anxious that she slept in the guest room, because she was crying so much and having nightmares and didn’t want to wake me. All of this has taken such a toll on us already, and we don’t even have a diagnosis!

  2. Thank goodness you had an informative and pleasant (under the circumstances) appointment with the genetics counsellor. How exasperating about the application! Ugh. Sorry that is causing more delay you don’t need. I’m sure this is very hard on both of you. I truly hope you have some meaningful answers soon. Hugs to you both in the meantime.

    • Thank you, Spiritbaby. We’re trying to take things one step at a time, or else it just seems to consume us. I’m glad we have access to the advanced fetal imaging and fetal medicine team though. I can’t even imagine going anywhere else for an anatomy ultrasound.

  3. Glad to hear the appointment went well and that things are moving along for you finally. What a monumental screw up with the application not even being received – that’s awful, one fax machine is just ridiculous when you think about the number and different kinds of funding applications they must receive. Sheesh.

    Hope the approval comes through tomorrow. Thinking of you and wishing you the best.

    • Thank you. I’m glad we had the opportunity today to talk with an expert and to lay out a plan. Did you notice a measurable quality difference in the anatomy ultrasound Junie had from the regular ultrasound to the specialized fetal ultrasound?

      • Yes, it was much clearer, even in the standard (non 3d) mode. The 3d mode is supposed to be clearer again. The maternal/fetal medicine specialist did some sort of manipulation of the 3d images (after they were taken) in order to take measurements, which ended up varying quite a bit from the earlier measurements from the regular anatomy ultrasound.

  4. That is such a beautiful necklace!

    I am shocked that they didn’t even freaking get your application. I would say I’m surprised they still use fax machines (let alone ONE number), but I am not…When we work with the gov’t on things here at the university, we are requested to send a fax. (?!?!) Thank god you are your own advocate, because some of these peoples levels of ineptness is enough to make you go bonkers. I’m hoping you get the funding – that’ll at least make the hassle worth it.

    Sounds like your genetic counselor visit was a good one – must have been refreshing for her to speak with people who speak her ‘language’ so she could lay it all out to someone who understands what it all means.

    I’m always holding you 3 in my thoughts and prayers.

    • Thanks Lindsay πŸ™‚ I’m shocked by the one fax machine, but I guess it’s kinda not surprising when you consider the many inefficiencies in the public health system. I’m also gonna call my family doc’s office to let them know that the super important application didn’t go through, despite them thinking it did on their end. I’m super angry about it, but I know it’s not their fault. The assistant might not be as diligent as my family doctor is. I’m kind of one of those people who double, triple checks important things.

  5. ONE fax machine? So crazy. How can they even attend to each request if they’re just going by what shoots out of a fax machine? You seem to have a great team around you (minus the fax mishap) and I’m hopeful they’ll be able to answer your questions very soon. Enough waiting already, sheesh.

  6. Sounds like a really good appointment. And very interesting about the 1.5-2% of the population with deletions/duplications. I had no idea! How many people could be saved a rough time in school and through childhood with this information? Unbelievable about the fax machine – just shocking inefficiency. I hate this kind of stuff in the workplace, there’s really no excuse for it. I hope you hear back soon.

  7. I hope you are able to get an answer on the funding question quickly so that you can get the testing done and hopefully put your minds at ease. Waiting just sucks and waiting and not knowing is even worse. Praying all goes through quickly and that everything with Dumplin’ is perfect!

    • Thank you πŸ™‚ The waiting is such torture. But the weather is nice, so I will try to keep myself distracted as best as I can. I’m hoping and praying with everything that I’ve got, that Dumplin’ is healthy.

  8. That necklace is bad ass! Website please! And good thing you inquired about the application and were able to resubmit so quickly. Hopefully, this wait won’t be so dreadful. Like you, I would do all the non-invasive stuff first before moving on to anything more intrusive. I can’t help but feel in my heart and in my gut, that lil’ Dumplin is just fine..and seriously one machine! This is 2015 people! Email a damn PDF!

    • PDF? What’s a PDF? I don’t think we have those in Canada lol. I agree. I’m shocked by the archaic level of technology our health system is functioning at.

      My friend’s website is dzeelouise.com, but her jewellery isn’t on there. You can find her on my Facebook friends list “Dzee Louise”, and either add her or contact her for more info. She is seriously talented!

      After laying out all of the genetic cards and seeing that there is zero family history of trisomies or heart defects on my side, we also think that Dumplin’ is probably fine. It just sucks to have to lose week after week of pregnancy happiness to worry and uncertainty. Thanks for the love!

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