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Touring the Third Trimester

Touring the Third Trimester

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Touring the Third Trimester

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Touring the Third Trimester

I mentioned back in the second trimester that I was hoping for an uneventful third trimester, and luckily… so far so good!

The pregnancy seems to be progressing well, I’m pretty sure my stomach looks bigger each day than it did the day before and I am having fun experiencing all the symptoms that go along with the later stages of pregnancy (fatigue, insomnia, indigestion, frequent urination and breathlessness when I walk and try to talk at the same time, or even just try to talk too much in general).

I feel like I’ve gotten to the point now where I get questioned multiple times a day about the pregnancy… you know acquaintances or even complete strangers who, for some reason, just love to quiz pregnant ladies on their life story.

There’s the typical “Is this your first?” question (which I’d really rather dodge if I could help it) and then “Do you know the gender?” followed by “When are you due?” usually rounded out with some sort of comment about size / shape of the stomach, sometimes even coupled with a quick belly squeeze (I actually don’t mind the belly touching, weird hey?) and (if you’re really lucky) it’s topped off with some random advice you didn’t ask for (LOL!).

I don’t really have any great pointers or ways to deal with these questions when you’re on pregnancy number 5 after 4 losses but I do just try to stick to reminding myself that people are just being friendly, they don’t know they are loaded questions and you need to be happy that you have a seemingly healthy baby that people actually want to talk to you about.

Every now and then, if it feels like the right moment, I do just mention its pregnancy number 5 and most people are actually pretty good about it – nearly everyone has their own story or similar experience to share or knows someone who has been through something similar.

As far as the pregnancy is going though, I think it’s pretty OK. My next appointment with the OB is tomorrow afternoon so I guess he will let us know what we’re in for next. I do know that we have to go for an extra scan some time soon to check on where the placenta is at (it was lying low at my last two scans) which can cause problems with blood clotting, but I don’t really know a lot about it as my OB said it would probably correct itself and I was of the opinion that I didn’t want to know more unless it proved to be an actual problem down the track.

I have even had the self-control not to google it so as to not worry myself. Ignorance is bliss!

Of course, if it does turn out to be a problem I will want to know every little minute detail I can about it… but for now I’m putting it at the back of my mind to worry about another day.

A lot of people have been asking if I’ve got the baby’s room set up and what have I bought so far… honestly, I’ve bought a few clothes (and been very lucky to have been gifted a lot of clothes as well!) and that’s it.

Don’t freak out, I have picked out a couple of items, so the little dude will have somewhere to sleep and what not, I just haven’t purchased them yet as I still really don’t know where we will be when the baby arrives, so I don’t want to go setting something up if it just needs to be moved again.

I have packed my hospital bag though, so… I’ll be good to go when the time comes.

That’s pretty much all the updates I have for now so until next time… (feel free to share thoughts / advice / ideas below!)


P.S. A lot of people have been asking about in-home consults. Yes, I am still doing them, and I have a couple of spaces free up until 16th July following which I will be unable to take any more new bookings. If you are keen for an appointment after that date I do have a wait list and you are welcome to add your name to the list so that you are the first to be contacted when I return. Check out the in-home consulting page for more info 😊

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The Eventful Second Trimester

The Eventful Second Trimester

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The Eventful Second Trimester

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The Eventful Second Trimester

I was feeling pretty relieved to actually make it in to the second trimester (weeks 13 – 27) a few weeks back.

I was looking forward to it for a few reasons.

Firstly, it meant that we had passed some of the more scary weeks where we really didn’t know if the pregnancy was viable, and we’d had the opportunity to have a very detailed scan to make sure G5 had all his little organs, limbs, fingers and toes in the places where they should be.

We’d also gotten the results of our percept NIPT, indicating G5 was low risk in terms of all the major syndromes and didn’t appear to have any duplications or subtractions on any of his chromosomes (any that were less than 11MB in size anyway – which had been the cause of our previous 4 miscarriages).

As we had opted not to have invasive testing (such as an Amnio or CVS) we knew that we wouldn’t know whether he was a carrier of the balanced translocation until after birth, but after speaking to our OB we found out that we would be able to have the cord blood tested once he had arrived, so that we could be prepared to help him through his own journey one day in the future if we need to.

After about week 13 my “morning sickness” also went away and I felt a little more like myself again (apart from the clear tightening of my clothes and constant struggle over “what is going to fit me today”?).

I was feeling pretty comfortable with where we were at and looking forward to relaxing a little with the knowledge that the pregnancy was progressing fine and that G5 was more than likely going to be completely OK.

I think it was a little naïve of me to think that I would stop stressing over the pregnancy in general… I mean, I have been about 80% more relaxed about it than I was previously, but I still find I worry about a lot of things that I wouldn’t usually worry about.

For example, a couple of weeks back I had what resembled a cold. No big deal, really. Just a sore throat and stuffy nose. I mentioned it to Sam and he suggested I go to the Doctor “just to be sure” that it wasn’t anything serious.

I kind of laughed at him and said that there was NO WAY I was going to the Doctor just for a cold (if you know me well you can no doubt imagine all the arguments I put forward as to why that was a silly idea). At least, that was my stance at about 4pm that afternoon.

I stayed in bed being plied with hot cups of tea and orange juice for my sore throat and hoped I might fall asleep and feel better in the morning… except what actually happened was that the congestion in my face became so severe that I couldn’t actually sleep… so by about 4am when my face was throbbing unbearabley (and having spent the whole night not sleeping) and given all that spare time I had awake, of course I had convinced myself by that stage that I must have some bizarre type of infection, I called the hospital to see what they thought… they said they weren’t busy and just to come on down and get checked out.

So I got out of bed at 4am and went down there. Luckily, they were right in saying it was quiet and I got straight in. The Doctor come over, checked me out and said “It looks like Sinusitus… doesn’t appear to be infected. But I’ll give you some pain medication and it’s probably best if you sleep sitting up for a few days because laying down is what is causing the congestion and the pain in your face”.

I kind of just sighed with relief and said “thanks but no thanks” to the pain meds and went back home to bed…

On the one hand, I was SO glad that there was nothing seriously wrong, and on the other hand I was kind of feeling a bit silly for being that person that went to the hospital for basically a bad case of hay fever.

The ladies at the hospital were lovely and farewelled me by saying “Look forward to seeing you when you come back in to have the baby in September – I’m sure we’ll remember you!”

I couldn’t help but think “I’m sure you will remember me… I’m sure most pregnant ladies don’t come in all upset over blocked sinuses”… LOL!

I was hopeful that would be the end of my emergency hospital visits until G5 decides to arrive, but alas, I was mistaken.

Not even 2 weeks later I found myself back at emergency… this time with something I was seriously quite stressed about.

I had been experiencing cramps for about 2 and a half hours before calling the hospital. They were pretty good about saying come straight down and we will check you out to make sure that it isn’t contractions.

I was quietly freaking out in my mind but hopeful that nothing was wrong. It was bizarre in the sense that I had a constant dull cramp that every now and then become quite intense for about a minute and then would ease off.

I got to the hospital and there were a couple of people in front of me. The ladies took their time doing all the paperwork and then asked me to sit in the waiting area. I felt like screaming at them “I need you to check my baby NOW” but remembered I was the crazy one who went in with a blocked nose a week and a half before and thought I better try and keep myself in check.

While I was waiting I had to run to the bathroom a couple of times just to… not throw up.

The pain was becoming quite intense by this stage.

I probably only waited about 15 minutes but it felt like a lifetime before the nurse called my name. They came down with a wheel chair so I wouldn’t have to walk too far and pretty quickly wheeled me straight up to a birthing suite. They got me into a bed pretty quickly and then the midwife came over to have a quick chat to me (we worked out pretty quickly that she is the midwife I’m booked in to see at my next check up so it was nice to have that connection) and she hooked me up to a monitor to check the babies heartbeat.

It took a few minutes to find him, and then eventually she told me that she had found his heartbeat and it sounded fine.

What a relief!!

Next, she checked me over (blood pressure, heart rate, temperature, urine test) and everything came back normal / clear. She wasn’t sure why I was having the cramps, but she was fairly certain that it wasn’t contractions.

I was pretty happy to hear that and found that the cramps had eased off considerably while laying in the hospital bed.

She told me that I would be fine to go home but of course to contact the hospital if it got worse or didn’t go away… luckily, I found that once I got home and into bed laying flat the cramps pretty much eased off completely.

The next day I was fine – it was as if I had never had a cramp in the first place!

So, the whole cramp scenario is a mystery… but I have a hunch that maybe my back was causing the problem (it was aching during the cramps as well and I had endured two days of flying within the week and two days in a row on the road, so it makes sense that my back wasn’t coping well with that scenario). Thank goodness I haven’t had any more cramps since then!

I felt very fortunate to have family and friends who were very supportive during my hospital visits (and to their credit made me feel completely normal for freaking out over things that probably weren’t actually a problem).

But all the emergency hospital events aside, the second trimester is actually kind of nice.

It’s quite obvious that I look pregnant at this stage, so people tend to ask about it and will often ask if they can touch my stomach. I know a lot of people REALLY don’t like that aspect of pregnancy, but I think it’s kind of nice.

I really enjoy feeling his little kicks (which seem to be getting stronger every day!) and it’s nice that other people can feel them if they put their hands on my stomach now too.

The other thing I am loving is the cute little clothes you can get for boys. I’ve heard lots of people say that its much more fun buying girls clothes… but I’ve been surprised just how many places sell super cute boy clothes.

I have been going a little crazy but… in my defence, he needs to wear clothes, right!?

Lastly, I’m enjoying reaching each of the milestones every fortnight and having a little celebration as each week we get closer to meeting this little guy. If you’re into that kind of thing make sure you follow along on our facebook and Instagram accounts to catch the fortnightly bumpdate thanks to Big Little Creations milestone cards!

I think the anxiety does ease off slightly each week, as I feel like we get closer to the point where he “would probably be OK” even if he arrived a little early (not that I’m expecting him too, it’s just one of those things that I find comforting to tell myself).

So, here’s hoping for a completely uneventful run for my last few weeks of trimester 2 and a relatively relaxed third trimester (that milestone is only 4.5 weeks away!).

Until next time… I’d love to know:

  • Did you freak out over certain things during your pregnancy?
  • Did you have a few “emergency” hospital visits too?
  • Or did you just sail through without any crazy hospital visits?
  • What were your favourite parts of the second trimester?

It seems everyone has a pregnancy story to tell and I would love to hear yours in the comments below 😉

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The Great Gender Reveal

Boy or Girl?

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The Great Gender Reveal

I don’t think I can really find the words to express just how relieved Sam and I were feeling when we saw our perfect little G5 on the ultrasound scan on Tuesday morning.

I was an absolute wreck before the scan, barely able to function, sobbing onto Sam’s shoulder and telling him I didn’t want to go to the appointment.

I knew I was being irrational, and everything was more than likely going to be fine, but I still could not shake the feeling that after everything that has happened something could still go wrong.

I had been keeping myself distracted as much as possible in the weeks leading up to the scan, but I was stressed to the max. I barely got myself together to go to the scan and felt very fortunate when the ultrasound tech reassured us that she would talk us through everything as she saw it on the screen.

We both watched and listened very intently, and when she told us that the baby looked text book perfect, I burst into tears out of pure relief. It took me a moment to bring myself back to reality again, so she could get a few pictures of the scan to send through to us (plus this gorgeous little video):

We were feeling pretty confident after the scan that everything was OK, but still had one more hurdle to jump over that afternoon when we saw our OB. He very quickly found our NIPT results and told us that the report stated “low risk” for all the chromosomal abnormalities we had been concerned about.

I focussed on asking a few serious questions about what happens next (luckily for us I get to be treated as a “normal” patient now and don’t need any further monitoring until the usual scan at 19 weeks). I thought that might stress me out a bit, but I’m feeling OK about it now that I know everything looks fine.

Then it was time for the fun part… finding out Baby G5’s Gender.

Usually, you don’t find this out until later on in a pregnancy, but because we had the NIPT test to check out all the serious chromosome stuff, they had to look at ALL the chromosomes… including the sex ones, and obviously, they write that on the report.

So, Sam and I were very excited to find out little G5’s gender.

BUT, I was really keen to have a bit of fun and rather than just tell everyone straight away, so I thought we could have some fun by doing a little gender reveal activity with our parents and sister.

The first date we can all get together at the same time is next Friday, so I’ve got a little bit of time to do some planning.

I do have an idea of what I’d like to do for the gender reveal, but as I am still in the planning stages, I am very keen to hear any thoughts or ideas anyone has on awesome gender reveals they have seen in the past!

I have been making a little collection of ideas on Pinterest so if you’re keen to check out what’s inspiring me so far, follow along on our Gender Reveal Board.

If you have a cool idea you’d like to share with us, please let me know in the comments below.

I would also really love to hear your guess as to whether you think little G5 is a boy or girl!?

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The Next Steps

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The Next Steps

We were feeling extremely relieved after our scan last week, showing little G5 wriggling away, waving his (or her) little arm, kicking like crazy and measuring right on time at 9 weeks and 5 days.

The relief lasted for about two seconds, following which we had to have a pretty serious conversation with our OB about what tests (if any) to have in order to be certain that little G5 doesn’t have an unbalanced translocation or Down’s Syndrome (I won’t go into the details of why this is a risk, but if you’re interested check out this post for more information).

We did quite a lot of research and were fortunate enough to be able to speak to friends and people in my support group who had experienced similar circumstances to us.

After taking into consideration all the information available to us, we decided to opt for a Percept NIPT test for pregnancies at increased risk of unbalanced translocations (after speaking to one of the senior scientists I felt confident that they would be able to detect an unbalanced translocation of 11 MB size even though their standard cut off point is 15 MB).

It is just a simple blood test (from my point of view) and should give us results within 3-4 days and fairly good certainty around whether or not the baby has a microdeletion on any chromosome (not just the ones we’re worried about) and can also accurately detect Down’s Syndrome.

I can have that test done at 11 weeks (which is less than 1 week away now).

The next step after that is to have an early anatomy scan at 12 weeks, which should be give us a fairly good indication that G5 has all his or her limbs in the right place, also screens for down’s syndrome and can pick up (some) major abnormalities if they are present.

We are hopeful that with the results of the NIPT and the scan that we can feel fairly confident everything is OK if the results come back clear.

If there is any amount of uncertainty in the results, we can still opt to have a CVS.

So we have about 2 weeks to wait until we know with pretty much certainty that everything is OK.

I had been feeling pretty stressed up until our scan last week, but I am feeling much better now. I don’t think 2 weeks is really that long to wait in the scheme of things.

Let’s stay hopeful that our tests come back all clear and everything is OK.

Until then, feel free to share your thoughts in the comments below.

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Lot’s of Things to Think About

Lot's of Things to Think About

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Lot’s of Things to Think About

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Lot’s of Things to Think About

If you follow along on our Instagram or Facebook pages you have probably already seen the good news… that our first scan went surprisingly well (I say surprisingly, because after 4 miscarriages in a row I don’t exactly set too many expectations for myself when we go in for our appointments these days) but on this occasion, we were very pleased to see our little bean wriggling around and measuring 1 day ahead at 7 weeks and 6 days.

After the scan, we had a lengthy chat with our OB who indicated that we could probably be cautiously optimistic about the current pregnancy, given that we were close to 8 weeks and everything so far looks good. It doesn’t mean we’re in the clear, but it is a good sign at this stage.

We then went on to discuss what we would like to do in terms of tests to determine whether the baby has any disabilities.

If you have followed along on our blog for a while now, you may recall a while back that we saw a genetics counsellor who indicated that, based on the breakpoints on Sam’s chromosomes due to his balanced translocation, our chances of going full term with a baby who had disabilities was about 10%… so of course that is something we are concerned about.

My main concerns when it comes to disabilities are a condition known as 1p36 Deletion Syndrome and Down’s Syndrome, given that chromosomes 1 and 21 are involved in the balanced translocation.

In terms of Down’s Syndrome, I don’t think our chances of that would be any higher than the general population. In terms of the balanced translocation, if there was too much of chromosome 21 inherited by the baby, it would mean there wasn’t enough chromosome 1… which, from our previous experiences, we know causes an early miscarriage (for us, anyway).

On the other hand, if part of Chromosome 21 was missing, apparently it wouldn’t really matter as people can exist as “normal” even with the whole short arm (“p” arm) of Chromosome 21 missing – which is the part of Sam’s that is swapped with Chromosome number 1. Even so, in our experience, we have had 1 miscarriage where part of chromosome 21 was missing, but it meant that there was too much Chromosome 1, which also resulted in a miscarriage for us.

(If this all sounds super confusing, check out this video for a quick overview of how chromosomal translocations work)

I hadn’t heard of 1p36 syndrome myself until I did a search to find out what types of disabilities are possible with this condition, and what I found was pretty serious. Here is an excerpt from the Genetic and Rare Diseases Information Centre:

"1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability . Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone ( hypotonia ) and swallowing difficulties ( dysphagia ). Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited ; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a balanced translocation , in which no genetic material is gained or lost. [1] There is no cure for this disease. Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems."

Based on my own research, I think the chances of our baby inheriting 1p36 syndrome are unlikely (although not impossible) as, from what I can find, although this syndrome does involve the exact part of Sam’s chromosome 1 involved in the translocation… I think his breakpoint is just slightly too big to cause this issue.

My understanding is that this particular syndrome is caused by a break between two specific points on the short (p) arm of chromosome one, spanning a distance of what is known as 10.5MB in size… whereas Sam’s break is 11MB in size… cutting it pretty fine, so like I say, not impossible but I think based on 3 of our previous miscarriages being due to a deletion of chromosome 1 at a size of 11MB (and one due to an addition of chromosome one at size of 11MB) we can feel at least some degree of safety that it is unlikely, in our case, that a baby with this deletion would go to term.

Nevertheless, it’s not completely impossible, as people with this condition do exist, and it is not usually until birth that their deletion is discovered.

Which brings us to our next dilemma.

Which is, do we… do nothing and assume the baby is fine? Do we explore some non-invasive testing options, or do we opt to have either a CVS or Amniocentesis to find out for sure whether the baby has any abnormalities?

It might sound simple in theory, but it really isn’t that straight forward.

While a CVS or an Amniocentesis (basically a big needle that goes through your stomach to take a sample that can be used to test whether there are any genetic disorders) can tell us with pretty much 100% certainty whether the baby does have any abnormalities, both tests come with a degree of risk, and that risk is, that if we do have a healthy “normal” pregnancy we are potentially putting the baby at risk of miscarriage by undergoing those tests.

The risk involved with CVS is about 2% resulting in miscarriage (so that’s about 1 in 50) and the risk with Amnio is a little less (more like 1%).

There is also the timing issue to consider, which is that a CVS can be done at around 11-13 weeks, whereas an Amnio can’t be done until about 16 weeks.

Then there is the waiting period (which can be up to 2 weeks) for the results.

Depending on the outcome of the test results, and whether we were to decide to continue with the pregnancy if serious abnormalities were shown, that means that we would have to make a decision about what to do quite quickly (it is illegal to undergo a termination after 20 weeks in Australia without prior approval from a medical board).

That’s not to say we would make that decision. I can’t say we would know for sure what we would do unless we were in the situation, but it does mean we still have to consider all the possibilities.

My gut feeling, based on our previous experiences, if that if a pregnancy is progressing as expected, it is probably unlikely that there is an underlying abnormality lurking in the background…

…but in saying that I would still like to have some sort of evidence to back up my hunch.

So, we decided to look into non-invasive options (blood tests), and a friend referred us to what is known as a percept NIPT for pregnancies at risk of unbalanced translocations (crazy that such a thing would even exist, hey!?)

I made a call to the company who does this test, gave them all our info… and they got back to us to say that they think the breaks on Sam’s chromosomes are probably too small to give an accurate result… however, they did say that if I could send them more information about our miscarriages and the breakpoints of the chromosomes on those, they might be able to re-assess.

So, I have sent them all the info on each of the miscarriages and I should get an answer back by tomorrow…

I’m not really expecting that they will be able to do the test for us, but it is worth exploring just in case.

Which brings us back to our initial dilemma…. Do we do an invasive test (CVS or Amnio) or just run with the standard tests that are available and hope for the best?

We have a week until our next appointment at which point we will need to decide.

The risks involved with CVS and Amnio don’t sit all that well with us, so we’re probably leaning towards doing
as many non-invasive tests as we can and then, if any of those show any concerns, opting to do a CVS or Amnio… unless of course all the planets align and the percept NIPT suddenly becomes suitable for us.

No doubt I will keep hashing over all the possibilities in my mind over the next week.

Just as an interesting side note, when I was going back over our medical documents to send to the clinic, I noticed there had been an error when they told us the gender of our previous losses… instead of 3 females and 2 males, they were actually 2 males and 2 females (in that order) so the debate on whether Baby G5 is a boy or girl is back on! 😉

Until next time, there’s lots of things to think about… as always, feel free to comment with your thoughts below.

References:
– Battaglia, A. (2013). 1p26 Deletion Syndrome. Gene Reviews. Retreived 29 January 2018 from: https://www.ncbi.nlm.nih.gov/books/NBK1191/

– Heilstedt, H. A., Ballif, B. C., Howard, L. A., Lewis, R. A., Stal, S., Kashork, C. D., Bacino, C. A., Shapira, S. K. & Shaffer, L. G. (2003). Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome. American Journal of Human Genetics. 73(5). pp 1200-1212

– National Centre for Advancing Translational Science (2016). Chromosome 1p36 deletion syndrome. Genetic and Rare Diseases Information Centre. Retreived 29 January, 2018 from: https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome

– Unique (2013). 1p36 deletion syndrome. Understanding Chromosome Disorders. Retrieved 29 January, 2018 from: http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNW.pdf 

– Unique (2005). 21q deletions. Understanding Chromosome Disorders. Retreived 29 January, 2018 from: http://www.rarechromo.org/information/Chromosome%2021/21q%20deletions%20FTNW.pdf

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